Log page index: User:ProteinBoxBot/PBB_Log_Index
Protein Status Quick Log - Date: 22:10, 3 November 2007 (UTC)[edit]
Proteins without matches (6)[edit]
Proteins with a High Potential Match (15)[edit]
Redirected Proteins (3)[edit]
Created (1)[edit]
Manual Inspection (Page not found) (20)[edit]
Updated (3)[edit]
Protein Status Grid - Date: 22:10, 3 November 2007 (UTC)[edit]
Vebose Log - Date: 22:10, 3 November 2007 (UTC)[edit]
- INFO: Beginning work on CASR... {November 3, 2007 2:45:21 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:46:28 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
| HGNCid = 1514
| Symbol = CASR
| AltSymbols =; CAR; FHH; FIH; GPRC2A; HHC; HHC1; MGC138441; NSHPT; PCAR1
| OMIM = 601199
| ECnumber =
| Homologene = 332
| MGIid = 1351351
| GeneAtlas_image1 = PBB_GE_CASR_210577_at_tn.png
| GeneAtlas_image2 = PBB_GE_CASR_211384_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004435 |text = phosphoinositide phospholipase C activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0008067 |text = metabotropic glutamate, GABA-B-like receptor activity}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0001503 |text = ossification}} {{GNF_GO|id=GO:0005513 |text = detection of calcium ion}} {{GNF_GO|id=GO:0006874 |text = cellular calcium ion homeostasis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007635 |text = chemosensory behavior}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 846
| Hs_Ensembl = ENSG00000036828
| Hs_RefseqProtein = NP_000379
| Hs_RefseqmRNA = NM_000388
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 123385871
| Hs_GenLoc_end = 123488032
| Hs_Uniprot = P41180
| Mm_EntrezGene = 12374
| Mm_Ensembl = ENSMUSG00000051980
| Mm_RefseqmRNA = NM_013803
| Mm_RefseqProtein = NP_038831
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 16
| Mm_GenLoc_start = 36412933
| Mm_GenLoc_end = 36481373
| Mm_Uniprot = O88982
}}
}}
'''Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)''', also known as '''CASR''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The calcium-sensing receptor (CASR) functions as a sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus helps to maintain a stable calcium concentration. Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia, whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia. An altenatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.<ref>{{cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Hendy GN, D'Souza-Li L, Yang B, ''et al.'' |title=Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. |journal=Hum. Mutat. |volume=16 |issue= 4 |pages= 281-96 |year= 2000 |pmid= 11013439 |doi= 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A }}
*{{cite journal | author=Fukumoto S |title=[Calcium-sensing receptor in bone cells] |journal=Nippon Rinsho |volume=60 Suppl 3 |issue= |pages= 57-63 |year= 2002 |pmid= 11979955 |doi= }}
*{{cite journal | author=Tfelt-Hansen J, Schwarz P, Brown EM, Chattopadhyay N |title=The calcium-sensing receptor in human disease. |journal=Front. Biosci. |volume=8 |issue= |pages= s377-90 |year= 2004 |pmid= 12700051 |doi= }}
*{{cite journal | author=Hu J, Spiegel AM |title=Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function. |journal=Trends Endocrinol. Metab. |volume=14 |issue= 6 |pages= 282-8 |year= 2004 |pmid= 12890593 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CD247... {November 3, 2007 2:47:43 PM PDT}
- SEARCH REDIRECT: Control Box Found: CD247 {November 3, 2007 2:48:34 PM PDT}
- UPDATE PROTEIN BOX: Updating Protein Box, No errors. {November 3, 2007 2:52:34 PM PDT}
- UPDATE SUMMARY: Updating Summary, No Errors. {November 3, 2007 2:52:34 PM PDT}
- UPDATE CITATIONS: Updating Citations, No Errors. {November 3, 2007 2:52:34 PM PDT}
- UPDATED: Updated protein page: CD247 {November 3, 2007 2:52:41 PM PDT}
- INFO: Beginning work on CDK5... {November 3, 2007 2:52:41 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:53:01 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|1h4l}}, {{PDB2|1ung}}, {{PDB2|1unh}}, {{PDB2|1unl}}
| Name = Cyclin-dependent kinase 5
| HGNCid = 1774
| Symbol = CDK5
| AltSymbols =; PSSALRE
| OMIM = 123831
| ECnumber =
| Homologene = 3623
| MGIid = 101765
| GeneAtlas_image1 = PBB_GE_CDK5_204247_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004693 |text = cyclin-dependent protein kinase activity}} {{GNF_GO|id=GO:0005176 |text = ErbB-2 class receptor binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0030549 |text = acetylcholine receptor activator activity}} {{GNF_GO|id=GO:0043125 |text = ErbB-3 class receptor binding}} {{GNF_GO|id=GO:0050321 |text = tau-protein kinase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0030027 |text = lamellipodium}} {{GNF_GO|id=GO:0030175 |text = filopodium}} {{GNF_GO|id=GO:0030424 |text = axon}} {{GNF_GO|id=GO:0030425 |text = dendrite}} {{GNF_GO|id=GO:0030426 |text = growth cone}} {{GNF_GO|id=GO:0031594 |text = neuromuscular junction}} {{GNF_GO|id=GO:0043025 |text = cell soma}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007160 |text = cell-matrix adhesion}} {{GNF_GO|id=GO:0007519 |text = striated muscle development}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0009790 |text = embryonic development}} {{GNF_GO|id=GO:0030182 |text = neuron differentiation}} {{GNF_GO|id=GO:0030334 |text = regulation of cell migration}} {{GNF_GO|id=GO:0031175 |text = neurite development}} {{GNF_GO|id=GO:0043525 |text = positive regulation of neuron apoptosis}} {{GNF_GO|id=GO:0048675 |text = axon extension}} {{GNF_GO|id=GO:0051301 |text = cell division}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1020
| Hs_Ensembl = ENSG00000164885
| Hs_RefseqProtein = NP_004926
| Hs_RefseqmRNA = NM_004935
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 7
| Hs_GenLoc_start = 150381832
| Hs_GenLoc_end = 150385929
| Hs_Uniprot = Q00535
| Mm_EntrezGene = 12568
| Mm_Ensembl = ENSMUSG00000028969
| Mm_RefseqmRNA = NM_007668
| Mm_RefseqProtein = NP_031694
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 23928307
| Mm_GenLoc_end = 23933595
| Mm_Uniprot = Q543F6
}}
}}
'''Cyclin-dependent kinase 5''', also known as '''CDK5''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Morishima-Kawashima M, Hasegawa M, Takio K, ''et al.'' |title=Hyperphosphorylation of tau in PHF. |journal=Neurobiol. Aging |volume=16 |issue= 3 |pages= 365-71; discussion 371-80 |year= 1995 |pmid= 7566346 |doi= }}
*{{cite journal | author=Peruzzi F, Gordon J, Darbinian N, Amini S |title=Tat-induced deregulation of neuronal differentiation and survival by nerve growth factor pathway. |journal=J. Neurovirol. |volume=8 Suppl 2 |issue= |pages= 91-6 |year= 2003 |pmid= 12491158 |doi= 10.1080/13550280290167885 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CLU... {November 3, 2007 2:53:01 PM PDT}
- SEARCH REDIRECT: Control Box Found: TRPM2 {November 3, 2007 2:53:54 PM PDT}
- UPDATE PROTEIN BOX: Updating Protein Box, No errors. {November 3, 2007 2:53:57 PM PDT}
- UPDATE SUMMARY: Updating Summary, No Errors. {November 3, 2007 2:53:57 PM PDT}
- UPDATE CITATIONS: Updating Citations, No Errors. {November 3, 2007 2:53:57 PM PDT}
- UPDATED: Updated protein page: TRPM2 {November 3, 2007 2:54:04 PM PDT}
- INFO: Beginning work on CSF2... {November 3, 2007 2:54:04 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:54:31 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|1csg}}, {{PDB2|2gmf}}
| Name = Colony stimulating factor 2 (granulocyte-macrophage)
| HGNCid = 2434
| Symbol = CSF2
| AltSymbols =; GMCSF; MGC131935; MGC138897
| OMIM = 138960
| ECnumber =
| Homologene = 600
| MGIid = 1339752
| GeneAtlas_image1 = PBB_GE_CSF2_210229_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005125 |text = cytokine activity}} {{GNF_GO|id=GO:0005129 |text = granulocyte macrophage colony-stimulating factor receptor binding}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}}
| Process = {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0006968 |text = cellular defense response}} {{GNF_GO|id=GO:0007166 |text = cell surface receptor linked signal transduction}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0043011 |text = myeloid dendritic cell differentiation}} {{GNF_GO|id=GO:0045885 |text = positive regulation of survival gene product activity}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1437
| Hs_Ensembl = ENSG00000164400
| Hs_RefseqProtein = NP_000749
| Hs_RefseqmRNA = NM_000758
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 131437382
| Hs_GenLoc_end = 131439758
| Hs_Uniprot = P04141
| Mm_EntrezGene = 12981
| Mm_Ensembl = ENSMUSG00000018916
| Mm_RefseqmRNA = NM_009969
| Mm_RefseqProtein = NP_034099
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 54090687
| Mm_GenLoc_end = 54093065
| Mm_Uniprot = Q14AD9
}}
}}
'''Colony stimulating factor 2 (granulocyte-macrophage)''', also known as '''CSF2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13.<ref>{{cite web | title = Entrez Gene: CSF2 colony stimulating factor 2 (granulocyte-macrophage)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1437| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Esnault S, Malter JS |title=GM-CSF regulation in eosinophils. |journal=Arch. Immunol. Ther. Exp. (Warsz.) |volume=50 |issue= 2 |pages= 121-30 |year= 2002 |pmid= 12022701 |doi= }}
*{{cite journal | author=Martinez-Moczygemba M, Huston DP |title=Biology of common beta receptor-signaling cytokines: IL-3, IL-5, and GM-CSF. |journal=J. Allergy Clin. Immunol. |volume=112 |issue= 4 |pages= 653-65; quiz 666 |year= 2003 |pmid= 14564341 |doi= 10.1016/S0091 }}
*{{cite journal | author=Mroczko B, Szmitkowski M |title=Hematopoietic cytokines as tumor markers. |journal=Clin. Chem. Lab. Med. |volume=42 |issue= 12 |pages= 1347-54 |year= 2005 |pmid= 15576295 |doi= 10.1515/CCLM.2004.253 }}
*{{cite journal | author=Hamilton JA, Anderson GP |title=GM-CSF Biology. |journal=Growth Factors |volume=22 |issue= 4 |pages= 225-31 |year= 2005 |pmid= 15621725 |doi= 10.1080/08977190412331279881 }}
*{{cite journal | author=Tortorella C, Simone O, Piazzolla G, ''et al.'' |title=Age-related impairment of GM-CSF-induced signalling in neutrophils: role of SHP-1 and SOCS proteins. |journal=Ageing Res. Rev. |volume=6 |issue= 2 |pages= 81-93 |year= 2007 |pmid= 17142110 |doi= 10.1016/j.arr.2006.10.001 }}
*{{cite journal | author=Robertson SA |title=GM-CSF regulation of embryo development and pregnancy. |journal=Cytokine Growth Factor Rev. |volume=18 |issue= 3-4 |pages= 287-98 |year= 2007 |pmid= 17512774 |doi= 10.1016/j.cytogfr.2007.04.008 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CTSB... {November 3, 2007 2:54:31 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:55:53 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|1csb}}, {{PDB2|1gmy}}, {{PDB2|1huc}}, {{PDB2|1pbh}}, {{PDB2|1sp4}}, {{PDB2|2ipp}}, {{PDB2|2pbh}}, {{PDB2|3pbh}}
| Name = Cathepsin B
| HGNCid = 2527
| Symbol = CTSB
| AltSymbols =; APPS; CPSB
| OMIM = 116810
| ECnumber =
| Homologene = 37550
| MGIid = 88561
| GeneAtlas_image1 = PBB_GE_CTSB_200839_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CTSB_200838_at_tn.png
| GeneAtlas_image3 = PBB_GE_CTSB_213274_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004197 |text = cysteine-type endopeptidase activity}} {{GNF_GO|id=GO:0004213 |text = cathepsin B activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0042981 |text = regulation of apoptosis}} {{GNF_GO|id=GO:0050790 |text = regulation of catalytic activity}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1508
| Hs_Ensembl = ENSG00000164733
| Hs_RefseqProtein = NP_001899
| Hs_RefseqmRNA = NM_001908
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 8
| Hs_GenLoc_start = 11737442
| Hs_GenLoc_end = 11763147
| Hs_Uniprot = P07858
| Mm_EntrezGene = 13030
| Mm_Ensembl = ENSMUSG00000021939
| Mm_RefseqmRNA = NM_007798
| Mm_RefseqProtein = NP_031824
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 14
| Mm_GenLoc_start = 62076572
| Mm_GenLoc_end = 62097243
| Mm_Uniprot = Q3TC17
}}
}}
'''Cathepsin B''', also known as '''CTSB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene.<ref>{{cite web | title = Entrez Gene: CTSB cathepsin B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1508| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Yan S, Sloane BF |title=Molecular regulation of human cathepsin B: implication in pathologies. |journal=Biol. Chem. |volume=384 |issue= 6 |pages= 845-54 |year= 2004 |pmid= 12887051 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CXCL10... {November 3, 2007 3:02:24 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein CXCL10 image.jpg {November 3, 2007 3:02:56 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:03:18 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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| update_protein_box = yes
| update_summary = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CXCL10_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lv9.
| PDB = {{PDB2|1lv9}}, {{PDB2|1o7y}}, {{PDB2|1o7z}}, {{PDB2|1o80}}
| Name = Chemokine (C-X-C motif) ligand 10
| HGNCid = 10637
| Symbol = CXCL10
| AltSymbols =; C7; IFI10; INP10; IP-10; SCYB10; crg-2; gIP-10; mob-1
| OMIM = 147310
| ECnumber =
| Homologene = 1203
| MGIid = 1352450
| GeneAtlas_image1 = PBB_GE_CXCL10_204533_at_tn.png
| Function = {{GNF_GO|id=GO:0008009 |text = chemokine activity}} {{GNF_GO|id=GO:0008603 |text = cAMP-dependent protein kinase regulator activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005625 |text = soluble fraction}}
| Process = {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0006935 |text = chemotaxis}} {{GNF_GO|id=GO:0006954 |text = inflammatory response}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007166 |text = cell surface receptor linked signal transduction}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0007517 |text = muscle development}} {{GNF_GO|id=GO:0008015 |text = circulation}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3627
| Hs_Ensembl = ENSG00000169245
| Hs_RefseqProtein = NP_001556
| Hs_RefseqmRNA = NM_001565
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 77161297
| Hs_GenLoc_end = 77163674
| Hs_Uniprot = P02778
| Mm_EntrezGene = 15945
| Mm_Ensembl = ENSMUSG00000034855
| Mm_RefseqmRNA = XM_975312
| Mm_RefseqProtein = XP_980406
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 93423001
| Mm_GenLoc_end = 93424014
| Mm_Uniprot = Q3U6X5
}}
}}
'''Chemokine (C-X-C motif) ligand 10''', also known as '''CXCL10''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes the interferon (gamma)-induced protein of 10kDa, a chemokine of the CXC subfamily that is one of the ligands for the receptor CXCR3. The binding of this protein to CXCR3 causes pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression.<ref>{{cite web | title = Entrez Gene: CXCL10 chemokine (C-X-C motif) ligand 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3627| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Farber JM |title=Mig and IP-10: CXC chemokines that target lymphocytes. |journal=J. Leukoc. Biol. |volume=61 |issue= 3 |pages= 246-57 |year= 1997 |pmid= 9060447 |doi= }}
*{{cite journal | author=Neville LF, Mathiak G, Bagasra O |title=The immunobiology of interferon-gamma inducible protein 10 kD (IP-10): a novel, pleiotropic member of the C-X-C chemokine superfamily. |journal=Cytokine Growth Factor Rev. |volume=8 |issue= 3 |pages= 207-19 |year= 1998 |pmid= 9462486 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CYP21A2... {November 3, 2007 2:56:33 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:57:07 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Cytochrome P450, family 21, subfamily A, polypeptide 2
| HGNCid = 2600
| Symbol = CYP21A2
| AltSymbols =; CPS1; CA21H; CAH1; CYP21; CYP21B; MGC150536; MGC150537; P450c21B
| OMIM = 201910
| ECnumber =
| Homologene = 68063
| MGIid = 88591
| GeneAtlas_image1 = PBB_GE_CYP21A2_214622_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0004509 |text = steroid 21-monooxygenase activity}} {{GNF_GO|id=GO:0005496 |text = steroid binding}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0008289 |text = lipid binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006700 |text = C21-steroid hormone biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1589
| Hs_Ensembl = ENSG00000168482
| Hs_RefseqProtein = NP_000491
| Hs_RefseqmRNA = NM_000500
| Hs_GenLoc_db =
| Hs_GenLoc_chr = c6_COX
| Hs_GenLoc_start = 32101901
| Hs_GenLoc_end = 32104612
| Hs_Uniprot = P08686
| Mm_EntrezGene = 13079
| Mm_Ensembl = ENSMUSG00000024365
| Mm_RefseqmRNA = NM_009995
| Mm_RefseqProtein = NP_034125
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 34409836
| Mm_GenLoc_end = 34412455
| Mm_Uniprot = A0JP50
}}
}}
'''Cytochrome P450, family 21, subfamily A, polypeptide 2''', also known as '''CYP21A2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency.<ref>{{cite web | title = Entrez Gene: CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1589| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=White PC, Tusie-Luna MT, New MI, Speiser PW |title=Mutations in steroid 21-hydroxylase (CYP21). |journal=Hum. Mutat. |volume=3 |issue= 4 |pages= 373-8 |year= 1994 |pmid= 8081391 |doi= 10.1002/humu.1380030408 }}
*{{cite journal | author=Helmberg A |title=Twin genes and endocrine disease: CYP21 and CYP11B genes. |journal=Acta Endocrinol. |volume=129 |issue= 2 |pages= 97-108 |year= 1993 |pmid= 8372604 |doi= }}
*{{cite journal | author=de-Araujo M, Sanches MR, Suzuki LA, ''et al.'' |title=Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. |journal=Braz. J. Med. Biol. Res. |volume=29 |issue= 1 |pages= 1-13 |year= 1996 |pmid= 8731325 |doi= }}
*{{cite journal | author=Yu CY |title=Molecular genetics of the human MHC complement gene cluster. |journal=Exp. Clin. Immunogenet. |volume=15 |issue= 4 |pages= 213-30 |year= 1999 |pmid= 10072631 |doi= }}
*{{cite journal | author=Forest MG, Tardy V, Nicolino M, ''et al.'' |title=21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. |journal=Ann. Endocrinol. (Paris) |volume=66 |issue= 3 |pages= 225-32 |year= 2005 |pmid= 15988383 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CYP2D6... {November 3, 2007 2:55:53 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:56:32 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|2f9q}}
| Name = Cytochrome P450, family 2, subfamily D, polypeptide 6
| HGNCid = 2625
| Symbol = CYP2D6
| AltSymbols =; CYP2D; CYP2D@; P450C2D; CPD6; CYP2DL1; MGC120389; MGC120390; P450-DB1
| OMIM = 124030
| ECnumber =
| Homologene = 68036
| MGIid = 1929474
| GeneAtlas_image1 = PBB_GE_CYP2D6_207498_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CYP2D6_215809_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0016712 |text = oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0050381 |text = unspecific monooxygenase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1565
| Hs_Ensembl = ENSG00000100197
| Hs_RefseqProtein = NP_000097
| Hs_RefseqmRNA = NM_000106
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 22
| Hs_GenLoc_start = 40852447
| Hs_GenLoc_end = 40856827
| Hs_Uniprot = P10635
| Mm_EntrezGene = 56448
| Mm_Ensembl = ENSMUSG00000061740
| Mm_RefseqmRNA = NM_019823
| Mm_RefseqProtein = NP_062797
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 82199236
| Mm_GenLoc_end = 82207926
| Mm_Uniprot =
}}
}}
'''Cytochrome P450, family 2, subfamily D, polypeptide 6''', also known as '''CYP2D6''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1565| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Smith G, Stubbins MJ, Harries LW, Wolf CR |title=Molecular genetics of the human cytochrome P450 monooxygenase superfamily. |journal=Xenobiotica |volume=28 |issue= 12 |pages= 1129-65 |year= 1999 |pmid= 9890157 |doi= }}
*{{cite journal | author=Wolf CR, Smith G |title=Cytochrome P450 CYP2D6. |journal=IARC Sci. Publ. |volume= |issue= 148 |pages= 209-29 |year= 1999 |pmid= 10493260 |doi= }}
*{{cite journal | author=Ding X, Kaminsky LS |title=Human extrahepatic cytochromes P450: function in xenobiotic metabolism and tissue-selective chemical toxicity in the respiratory and gastrointestinal tracts. |journal=Annu. Rev. Pharmacol. Toxicol. |volume=43 |issue= |pages= 149-73 |year= 2003 |pmid= 12171978 |doi= 10.1146/annurev.pharmtox.43.100901.140251 }}
*{{cite journal | author=Lilienfeld S |title=Galantamine--a novel cholinergic drug with a unique dual mode of action for the treatment of patients with Alzheimer's disease. |journal=CNS drug reviews |volume=8 |issue= 2 |pages= 159-76 |year= 2002 |pmid= 12177686 |doi= }}
*{{cite journal | author=Yu AM, Idle JR, Gonzalez FJ |title=Polymorphic cytochrome P450 2D6: humanized mouse model and endogenous substrates. |journal=Drug Metab. Rev. |volume=36 |issue= 2 |pages= 243-77 |year= 2004 |pmid= 15237854 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on DRD4... {November 3, 2007 2:57:08 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:57:23 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Dopamine receptor D4
| HGNCid = 3025
| Symbol = DRD4
| AltSymbols =; D4DR
| OMIM = 126452
| ECnumber =
| Homologene = 20215
| MGIid = 94926
| GeneAtlas_image1 = PBB_GE_DRD4_208215_x_at_tn.png
| Function = {{GNF_GO|id=GO:0001584 |text = rhodopsin-like receptor activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004952 |text = dopamine receptor activity}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007212 |text = dopamine receptor signaling pathway}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1815
| Hs_Ensembl = ENSG00000069696
| Hs_RefseqProtein = NP_000788
| Hs_RefseqmRNA = NM_000797
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 627305
| Hs_GenLoc_end = 630703
| Hs_Uniprot =
| Mm_EntrezGene = 13491
| Mm_Ensembl = ENSMUSG00000025496
| Mm_RefseqmRNA = NM_007878
| Mm_RefseqProtein = NP_031904
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 141143350
| Mm_GenLoc_end = 141147783
| Mm_Uniprot = Q7TT80
}}
}}
'''Dopamine receptor D4''', also known as '''DRD4''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats.<ref>{{cite web | title = Entrez Gene: DRD4 dopamine receptor D4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1815| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on EPOR... {November 3, 2007 2:57:23 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:57:48 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|1cn4}}, {{PDB2|1eba}}, {{PDB2|1ebp}}, {{PDB2|1eer}}, {{PDB2|1ern}}
| Name = Erythropoietin receptor
| HGNCid = 3416
| Symbol = EPOR
| AltSymbols =; MGC138358
| OMIM = 133171
| ECnumber =
| Homologene = 95
| MGIid = 95408
| GeneAtlas_image1 = PBB_GE_EPOR_396_f_at_tn.png
| GeneAtlas_image2 = PBB_GE_EPOR_37986_at_tn.png
| GeneAtlas_image3 = PBB_GE_EPOR_209962_at_tn.png
| Function = {{GNF_GO|id=GO:0004900 |text = erythropoietin receptor activity}} {{GNF_GO|id=GO:0005085 |text = guanyl-nucleotide exchange factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2057
| Hs_Ensembl = ENSG00000187266
| Hs_RefseqProtein = NP_000112
| Hs_RefseqmRNA = NM_000121
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 11348883
| Hs_GenLoc_end = 11355883
| Hs_Uniprot = P19235
| Mm_EntrezGene = 13857
| Mm_Ensembl = ENSMUSG00000006235
| Mm_RefseqmRNA = XM_978769
| Mm_RefseqProtein = XP_983863
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 21709306
| Mm_GenLoc_end = 21713908
| Mm_Uniprot = Q3UTV9
}}
}}
'''Erythropoietin receptor''', also known as '''EPOR''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin binding, the erythropoietin receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis.<ref>{{cite web | title = Entrez Gene: EPOR erythropoietin receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2057| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Zhu Y, D'Andrea AD |title=The molecular physiology of erythropoietin and the erythropoietin receptor. |journal=Curr. Opin. Hematol. |volume=1 |issue= 2 |pages= 113-8 |year= 1999 |pmid= 9371269 |doi= }}
*{{cite journal | author=Lacombe C, Mayeux P |title=Biology of erythropoietin. |journal=Haematologica |volume=83 |issue= 8 |pages= 724-32 |year= 1998 |pmid= 9793257 |doi= }}
*{{cite journal | author=Bonifacino JS |title=Quality control of receptor-kinase signaling complexes. |journal=Dev. Cell |volume=2 |issue= 1 |pages= 1-2 |year= 2002 |pmid= 11782306 |doi= }}
*{{cite journal | author=Takeshita A, Shinjo K, Naito K, ''et al.'' |title=Erythropoietin receptor in myelodysplastic syndrome and leukemia. |journal=Leuk. Lymphoma |volume=43 |issue= 2 |pages= 261-4 |year= 2003 |pmid= 11999556 |doi= }}
*{{cite journal | author=Kralovics R, Skoda RC |title=Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders. |journal=Blood Rev. |volume=19 |issue= 1 |pages= 1-13 |year= 2005 |pmid= 15572213 |doi= 10.1016/j.blre.2004.02.002 }}
*{{cite journal | author=Madeddu P, Emanueli C |title=Switching on reparative angiogenesis: essential role of the vascular erythropoietin receptor. |journal=Circ. Res. |volume=100 |issue= 5 |pages= 599-601 |year= 2007 |pmid= 17363704 |doi= 10.1161/01.RES.0000261610.11754.b1 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on ERCC2... {November 3, 2007 2:57:48 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:58:30 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)
| HGNCid = 3434
| Symbol = ERCC2
| AltSymbols =; EM9; MGC102762; MGC126218; MGC126219; TTD; XPD
| OMIM = 126340
| ECnumber =
| Homologene = 344
| MGIid = 95413
| GeneAtlas_image1 = PBB_GE_ERCC2_213468_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0004003 |text = ATP-dependent DNA helicase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016818 |text = hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides}} {{GNF_GO|id=GO:0043139 |text = 5' to 3' DNA helicase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005675 |text = holo TFIIH complex}}
| Process = {{GNF_GO|id=GO:0006139 |text = nucleobase, nucleoside, nucleotide and nucleic acid metabolic process}} {{GNF_GO|id=GO:0006283 |text = transcription-coupled nucleotide-excision repair}} {{GNF_GO|id=GO:0006289 |text = nucleotide-excision repair}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006917 |text = induction of apoptosis}} {{GNF_GO|id=GO:0006979 |text = response to oxidative stress}} {{GNF_GO|id=GO:0007568 |text = aging}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0009791 |text = post-embryonic development}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2068
| Hs_Ensembl = ENSG00000104884
| Hs_RefseqProtein = NP_000391
| Hs_RefseqmRNA = NM_000400
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 50546686
| Hs_GenLoc_end = 50565669
| Hs_Uniprot = P18074
| Mm_EntrezGene = 13871
| Mm_Ensembl = ENSMUSG00000030400
| Mm_RefseqmRNA = NM_007949
| Mm_RefseqProtein = NP_031975
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 18540561
| Mm_GenLoc_end = 18554214
| Mm_Uniprot = Q3UKK7
}}
}}
'''Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)''', also known as '''ERCC2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome.<ref>{{cite web | title = Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2068| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Broughton BC, Thompson AF, Harcourt SA, ''et al.'' |title=Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 167-74 |year= 1995 |pmid= 7825573 |doi= }}
*{{cite journal | author=Jeang KT |title=Tat, Tat-associated kinase, and transcription. |journal=J. Biomed. Sci. |volume=5 |issue= 1 |pages= 24-7 |year= 1998 |pmid= 9570510 |doi= }}
*{{cite journal | author=Yankulov K, Bentley D |title=Transcriptional control: Tat cofactors and transcriptional elongation. |journal=Curr. Biol. |volume=8 |issue= 13 |pages= R447-9 |year= 1998 |pmid= 9651670 |doi= }}
*{{cite journal | author=Cleaver JE, Thompson LH, Richardson AS, States JC |title=A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 9-22 |year= 1999 |pmid= 10447254 |doi= 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6 }}
*{{cite journal | author=Lehmann AR |title=The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. |journal=Genes Dev. |volume=15 |issue= 1 |pages= 15-23 |year= 2001 |pmid= 11156600 |doi= }}
*{{cite journal | author=Benhamou S, Sarasin A |title=ERCC2/XPD gene polymorphisms and cancer risk. |journal=Mutagenesis |volume=17 |issue= 6 |pages= 463-9 |year= 2003 |pmid= 12435843 |doi= }}
*{{cite journal | author=Clarkson SG, Wood RD |title=Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. |journal=DNA Repair (Amst.) |volume=4 |issue= 10 |pages= 1068-74 |year= 2006 |pmid= 16054878 |doi= 10.1016/j.dnarep.2005.07.001 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on FLT3... {November 3, 2007 2:58:30 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:58:58 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
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| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Fms-related tyrosine kinase 3
| HGNCid = 3765
| Symbol = FLT3
| AltSymbols =; STK1; CD135; FLK2
| OMIM = 136351
| ECnumber =
| Homologene = 3040
| MGIid = 95559
| GeneAtlas_image1 = PBB_GE_FLT3_206674_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005021 |text = vascular endothelial growth factor receptor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2322
| Hs_Ensembl = ENSG00000122025
| Hs_RefseqProtein = NP_004110
| Hs_RefseqmRNA = NM_004119
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 13
| Hs_GenLoc_start = 27475411
| Hs_GenLoc_end = 27572729
| Hs_Uniprot = P36888
| Mm_EntrezGene = 14255
| Mm_Ensembl = ENSMUSG00000042817
| Mm_RefseqmRNA = NM_010229
| Mm_RefseqProtein = NP_034359
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 5
| Mm_GenLoc_start = 147641520
| Mm_GenLoc_end = 147710644
| Mm_Uniprot = Q2VPD1
}}
}}
'''Fms-related tyrosine kinase 3''', also known as '''FLT3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. The receptor consists of an extracellular domain composed of five immunoglobulin-like domains, one transmembrane region, and a cytoplasmic kinase domain split into two parts by a kinase-insert domain. The receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia.<ref>{{cite web | title = Entrez Gene: FLT3 fms-related tyrosine kinase 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2322| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Reilly JT |title=FLT3 and its role in the pathogenesis of acute myeloid leukaemia. |journal=Leuk. Lymphoma |volume=44 |issue= 1 |pages= 1-7 |year= 2003 |pmid= 12691136 |doi= }}
*{{cite journal | author=Kottaridis PD, Gale RE, Linch DC |title=Prognostic implications of the presence of FLT3 mutations in patients with acute myeloid leukemia. |journal=Leuk. Lymphoma |volume=44 |issue= 6 |pages= 905-13 |year= 2003 |pmid= 12854887 |doi= }}
*{{cite journal | author=Gilliland DG |title=FLT3-activating mutations in acute promyelocytic leukaemia: a rationale for risk-adapted therapy with FLT3 inhibitors. |journal=Best practice & research. Clinical haematology |volume=16 |issue= 3 |pages= 409-17 |year= 2004 |pmid= 12935959 |doi= }}
*{{cite journal | author=Drexler HG, Quentmeier H |title=FLT3: receptor and ligand. |journal=Growth Factors |volume=22 |issue= 2 |pages= 71-3 |year= 2005 |pmid= 15253381 |doi= }}
*{{cite journal | author=Naoe T, Kiyoi H |title=Normal and oncogenic FLT3. |journal=Cell. Mol. Life Sci. |volume=61 |issue= 23 |pages= 2932-8 |year= 2005 |pmid= 15583855 |doi= 10.1007/s00018-004-4274-x }}
*{{cite journal | author=Sternberg DW, Licht JD |title=Therapeutic intervention in leukemias that express the activated fms-like tyrosine kinase 3 (FLT3): opportunities and challenges. |journal=Curr. Opin. Hematol. |volume=12 |issue= 1 |pages= 7-13 |year= 2005 |pmid= 15604885 |doi= }}
*{{cite journal | author=Marcucci G, Mrózek K, Bloomfield CD |title=Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics. |journal=Curr. Opin. Hematol. |volume=12 |issue= 1 |pages= 68-75 |year= 2005 |pmid= 15604894 |doi= }}
*{{cite journal | author=Markovic A, MacKenzie KL, Lock RB |title=FLT-3: a new focus in the understanding of acute leukemia. |journal=Int. J. Biochem. Cell Biol. |volume=37 |issue= 6 |pages= 1168-72 |year= 2005 |pmid= 15778081 |doi= 10.1016/j.biocel.2004.12.005 }}
*{{cite journal | author=Zheng R, Small D |title=Mutant FLT3 signaling contributes to a block in myeloid differentiation. |journal=Leuk. Lymphoma |volume=46 |issue= 12 |pages= 1679-87 |year= 2006 |pmid= 16263569 |doi= 10.1080/10428190500261740 }}
*{{cite journal | author=Parcells BW, Ikeda AK, Simms-Waldrip T, ''et al.'' |title=FMS-like tyrosine kinase 3 in normal hematopoiesis and acute myeloid leukemia. |journal=Stem Cells |volume=24 |issue= 5 |pages= 1174-84 |year= 2007 |pmid= 16410383 |doi= 10.1634/stemcells.2005-0519 }}
*{{cite journal | author=Stubbs MC, Armstrong SA |title=FLT3 as a therapeutic target in childhood acute leukemia. |journal=Current drug targets |volume=8 |issue= 6 |pages= 703-14 |year= 2007 |pmid= 17584026 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on FMR1... {November 3, 2007 2:58:58 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:59:26 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|2bkd}}, {{PDB2|2fmr}}
| Name = Fragile X mental retardation 1
| HGNCid = 3775
| Symbol = FMR1
| AltSymbols =; FMRP; FRAXA; MGC87458
| OMIM = 309550
| ECnumber =
| Homologene = 1531
| MGIid = 95564
| GeneAtlas_image1 = PBB_GE_FMR1_203689_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_FMR1_215245_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0003729 |text = mRNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005654 |text = nucleoplasm}} {{GNF_GO|id=GO:0005730 |text = nucleolus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0042788 |text = polysomal ribosome}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0007417 |text = central nervous system development}} {{GNF_GO|id=GO:0051028 |text = mRNA transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2332
| Hs_Ensembl = ENSG00000102081
| Hs_RefseqProtein = NP_002015
| Hs_RefseqmRNA = NM_002024
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 146801173
| Hs_GenLoc_end = 146840337
| Hs_Uniprot = Q06787
| Mm_EntrezGene = 14265
| Mm_Ensembl = ENSMUSG00000000838
| Mm_RefseqmRNA = XM_990299
| Mm_RefseqProtein = XP_995393
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 64939220
| Mm_GenLoc_end = 64978630
| Mm_Uniprot = Q6AXB7
}}
}}
'''Fragile X mental retardation 1''', also known as '''FMR1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = X-linked mental retardation associated with marXq28, or fragile X syndrome, is characterized by moderate to severe mental retardation, macroorchidism, large ears, prominent jaw, and high-pitched jocular speech. Expression is variable, with mental retardation being the most common feature. This phenotype is associated with mutations in the FMR1 gene. McCabe et al. (1999) [PubMed 10398250] summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: FMR1 fragile X mental retardation 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2332| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Nicola NA, Metcalf D |title=Subunit promiscuity among hemopoietic growth factor receptors. |journal=Cell |volume=67 |issue= 1 |pages= 1-4 |year= 1991 |pmid= 1913811 |doi= }}
*{{cite journal | author=Sielska D, Milewski M, Bal J |title=[Molecular pathogenesis of fragile X syndrome] |journal=Medycyna wieku rozwojowego |volume=6 |issue= 4 |pages= 295-308 |year= 2003 |pmid= 12810982 |doi= }}
*{{cite journal | author=Bagni C, Greenough WT |title=From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. |journal=Nat. Rev. Neurosci. |volume=6 |issue= 5 |pages= 376-87 |year= 2005 |pmid= 15861180 |doi= 10.1038/nrn1667 }}
*{{cite journal | author=Huber KM |title=The fragile X-cerebellum connection. |journal=Trends Neurosci. |volume=29 |issue= 4 |pages= 183-5 |year= 2006 |pmid= 16500716 |doi= 10.1016/j.tins.2006.02.001 }}
*{{cite journal | author=Loesch DZ, Bui QM, Dissanayake C, ''et al.'' |title=Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. |journal=Neuroscience and biobehavioral reviews |volume=31 |issue= 3 |pages= 315-26 |year= 2007 |pmid= 17097142 |doi= 10.1016/j.neubiorev.2006.09.007 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GBA... {November 3, 2007 3:00:00 PM PDT}
- UPLOAD: Added new Image to wiki:
{November 3, 2007 3:00:57 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:01:15 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GBA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ogs.
| PDB = {{PDB2|1ogs}}, {{PDB2|1y7v}}, {{PDB2|2f61}}, {{PDB2|2j25}}, {{PDB2|2nsx}}, {{PDB2|2nt0}}, {{PDB2|2nt1}}
| Name = Glucosidase, beta; acid (includes glucosylceramidase)
| HGNCid = 4177
| Symbol = GBA
| AltSymbols =; GBA1; GCB; GLUC
| OMIM = 606463
| ECnumber =
| Homologene = 68040
| MGIid = 95665
| GeneAtlas_image1 = PBB_GE_GBA_209093_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_GBA_210589_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003824 |text = catalytic activity}} {{GNF_GO|id=GO:0004348 |text = glucosylceramidase activity}} {{GNF_GO|id=GO:0016798 |text = hydrolase activity, acting on glycosyl bonds}} {{GNF_GO|id=GO:0043169 |text = cation binding}}
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006629 |text = lipid metabolic process}} {{GNF_GO|id=GO:0006665 |text = sphingolipid metabolic process}} {{GNF_GO|id=GO:0007040 |text = lysosome organization and biogenesis}} {{GNF_GO|id=GO:0008152 |text = metabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2629
| Hs_Ensembl = ENSG00000177628
| Hs_RefseqProtein = NP_000148
| Hs_RefseqmRNA = NM_000157
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 153470867
| Hs_GenLoc_end = 153481112
| Hs_Uniprot = P04062
| Mm_EntrezGene = 14466
| Mm_Ensembl = ENSMUSG00000028048
| Mm_RefseqmRNA = NM_001077411
| Mm_RefseqProtein = NP_001070879
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 3
| Mm_GenLoc_start = 89288855
| Mm_GenLoc_end = 89294608
| Mm_Uniprot = Q78NR7
}}
}}
'''Glucosidase, beta; acid (includes glucosylceramidase)''', also known as '''GBA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein.<ref>{{cite web | title = Entrez Gene: GBA glucosidase, beta; acid (includes glucosylceramidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2629| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Horowitz M, Zimran A |title=Mutations causing Gaucher disease. |journal=Hum. Mutat. |volume=3 |issue= 1 |pages= 1-11 |year= 1994 |pmid= 8118460 |doi= 10.1002/humu.1380030102 }}
*{{cite journal | author=Tayebi N, Stone DL, Sidransky E |title=Type 2 gaucher disease: an expanding phenotype. |journal=Mol. Genet. Metab. |volume=68 |issue= 2 |pages= 209-19 |year= 2000 |pmid= 10527671 |doi= 10.1006/mgme.1999.2918 }}
*{{cite journal | author=Stone DL, Tayebi N, Orvisky E, ''et al.'' |title=Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. |journal=Hum. Mutat. |volume=15 |issue= 2 |pages= 181-8 |year= 2000 |pmid= 10649495 |doi= 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S }}
*{{cite journal | author=Caillaud C, Poenaru L |title=[Gaucher's and Fabry's diseases: biochemical and genetic aspects] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 135-40 |year= 2002 |pmid= 12360742 |doi= }}
*{{cite journal | author=Fabrega S, Durand P, Mornon JP, Lehn P |title=[The active site of human glucocerebrosidase: structural predictions and experimental validations] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 151-60 |year= 2002 |pmid= 12360744 |doi= }}
*{{cite journal | author=Alfonso P, Aznarez S, Giralt M, ''et al.'' |title=Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. |journal=J. Hum. Genet. |volume=52 |issue= 5 |pages= 391-6 |year= 2007 |pmid= 17427031 |doi= 10.1007/s10038-007-0135-4 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GZMB... {November 3, 2007 3:01:15 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein GZMB image.jpg {November 3, 2007 3:01:49 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:02:24 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GZMB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1fq3.
| PDB = {{PDB2|1fq3}}, {{PDB2|1iau}}
| Name = Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
| HGNCid = 4709
| Symbol = GZMB
| AltSymbols =; HLP; CTLA1; CCPI; CGL-1; CGL1; CSP-B; CSPB; CTSGL1; SECT
| OMIM = 123910
| ECnumber =
| Homologene = 20876
| MGIid = 109267
| GeneAtlas_image1 = PBB_GE_GZMB_210164_at_tn.png
| Function = {{GNF_GO|id=GO:0004252 |text = serine-type endopeptidase activity}} {{GNF_GO|id=GO:0004278 |text = granzyme B activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0001772 |text = immunological synapse}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0006915 |text = apoptosis}} {{GNF_GO|id=GO:0006922 |text = cleavage of lamin}} {{GNF_GO|id=GO:0019835 |text = cytolysis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3002
| Hs_Ensembl = ENSG00000100453
| Hs_RefseqProtein = NP_004122
| Hs_RefseqmRNA = NM_004131
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 14
| Hs_GenLoc_start = 24170017
| Hs_GenLoc_end = 24173313
| Hs_Uniprot = P10144
| Mm_EntrezGene = 14939
| Mm_Ensembl = ENSMUSG00000015437
| Mm_RefseqmRNA = NM_013542
| Mm_RefseqProtein = NP_038570
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 14
| Mm_GenLoc_start = 55212909
| Mm_GenLoc_end = 55216328
| Mm_Uniprot = Q3TIP3
}}
}}
'''Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)''', also known as '''GZMB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune response.<ref>{{cite web | title = Entrez Gene: GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3002| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Trapani JA |title=Target cell apoptosis induced by cytotoxic T cells and natural killer cells involves synergy between the pore-forming protein, perforin, and the serine protease, granzyme B. |journal=Australian and New Zealand journal of medicine |volume=25 |issue= 6 |pages= 793-9 |year= 1996 |pmid= 8770355 |doi= }}
*{{cite journal | author=Cohen GM |title=Caspases: the executioners of apoptosis. |journal=Biochem. J. |volume=326 ( Pt 1) |issue= |pages= 1-16 |year= 1997 |pmid= 9337844 |doi= }}
*{{cite journal | author=Trapani JA, Sutton VR |title=Granzyme B: pro-apoptotic, antiviral and antitumor functions. |journal=Curr. Opin. Immunol. |volume=15 |issue= 5 |pages= 533-43 |year= 2004 |pmid= 14499262 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on LRRK2... {November 3, 2007 3:07:52 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:09:12 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Leucine-rich repeat kinase 2
| HGNCid = 18618
| Symbol = LRRK2
| AltSymbols =; AURA17; PARK8; RIPK7; ROCO2
| OMIM = 609007
| ECnumber =
| Homologene = 18982
| MGIid = 1913975
| GeneAtlas_image1 = PBB_GE_LRRK2_gnf1h07577_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_LRRK2_gnf1h07580_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 120892
| Hs_Ensembl = ENSG00000188906
| Hs_RefseqProtein = NP_940980
| Hs_RefseqmRNA = NM_198578
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 12
| Hs_GenLoc_start = 38905080
| Hs_GenLoc_end = 39047834
| Hs_Uniprot = Q5S007
| Mm_EntrezGene = 66725
| Mm_Ensembl = ENSMUSG00000036273
| Mm_RefseqmRNA = NM_025730
| Mm_RefseqProtein = NP_080006
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 91501048
| Mm_GenLoc_end = 91643793
| Mm_Uniprot = Q5S006
}}
}}
'''Leucine-rich repeat kinase 2''', also known as '''LRRK2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8.<ref>{{cite web | title = Entrez Gene: LRRK2 leucine-rich repeat kinase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=120892| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Singleton AB |title=Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. |journal=Trends Neurosci. |volume=28 |issue= 8 |pages= 416-21 |year= 2005 |pmid= 15955578 |doi= 10.1016/j.tins.2005.05.009 }}
*{{cite journal | author=Mata IF, Wedemeyer WJ, Farrer MJ, ''et al.'' |title=LRRK2 in Parkinson's disease: protein domains and functional insights. |journal=Trends Neurosci. |volume=29 |issue= 5 |pages= 286-93 |year= 2006 |pmid= 16616379 |doi= 10.1016/j.tins.2006.03.006 }}
*{{cite journal | author=Haugarvoll K, Wszolek ZK |title=PARK8 LRRK2 parkinsonism. |journal=Current neurology and neuroscience reports |volume=6 |issue= 4 |pages= 287-94 |year= 2006 |pmid= 16822348 |doi= }}
*{{cite journal | author=Bonifati V |title=The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2. |journal=Current neurology and neuroscience reports |volume=6 |issue= 5 |pages= 355-7 |year= 2006 |pmid= 16928343 |doi= }}
*{{cite journal | author=Schapira AH |title=The importance of LRRK2 mutations in Parkinson disease. |journal=Arch. Neurol. |volume=63 |issue= 9 |pages= 1225-8 |year= 2006 |pmid= 16966498 |doi= 10.1001/archneur.63.9.1225 }}
*{{cite journal | author=Whaley NR, Uitti RJ, Dickson DW, ''et al.'' |title=Clinical and pathologic features of families with LRRK2-associated Parkinson's disease. |journal=J. Neural Transm. Suppl. |volume= |issue= 70 |pages= 221-9 |year= 2006 |pmid= 17017533 |doi= }}
*{{cite journal | author=Gasser T |title=Molecular genetic findings in LRRK2 American, Canadian and German families. |journal=J. Neural Transm. Suppl. |volume= |issue= 70 |pages= 231-4 |year= 2006 |pmid= 17017534 |doi= }}
*{{cite journal | author=Tan EK |title=Identification of a common genetic risk variant (LRRK2 Gly2385Arg) in Parkinson's disease. |journal=Ann. Acad. Med. Singap. |volume=35 |issue= 11 |pages= 840-2 |year= 2007 |pmid= 17160203 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on LTF... {November 3, 2007 3:03:19 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein LTF image.jpg {November 3, 2007 3:03:34 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:03:52 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_LTF_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1b0l.
| PDB = {{PDB2|1b0l}}, {{PDB2|1bka}}, {{PDB2|1cb6}}, {{PDB2|1dsn}}, {{PDB2|1eh3}}, {{PDB2|1fck}}, {{PDB2|1h43}}, {{PDB2|1h44}}, {{PDB2|1h45}}, {{PDB2|1hse}}, {{PDB2|1l5t}}, {{PDB2|1lcf}}, {{PDB2|1lct}}, {{PDB2|1lfg}}, {{PDB2|1lfh}}, {{PDB2|1lfi}}, {{PDB2|1lgb}}, {{PDB2|1n76}}, {{PDB2|1sqy}}, {{PDB2|1vfd}}, {{PDB2|1vfe}}, {{PDB2|1z6v}}, {{PDB2|1z6w}}, {{PDB2|2bjj}}
| Name = Lactotransferrin
| HGNCid = 6720
| Symbol = LTF
| AltSymbols =; GIG12; HLF2
| OMIM = 150210
| ECnumber =
| Homologene = 1754
| MGIid = 96837
| Function = {{GNF_GO|id=GO:0004252 |text = serine-type endopeptidase activity}} {{GNF_GO|id=GO:0008199 |text = ferric iron binding}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006826 |text = iron ion transport}} {{GNF_GO|id=GO:0006879 |text = cellular iron ion homeostasis}} {{GNF_GO|id=GO:0006959 |text = humoral immune response}} {{GNF_GO|id=GO:0042742 |text = defense response to bacterium}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4057
| Hs_Ensembl =
| Hs_RefseqProtein = NP_002334
| Hs_RefseqmRNA = NM_002343
| Hs_GenLoc_db =
| Hs_GenLoc_chr =
| Hs_GenLoc_start =
| Hs_GenLoc_end =
| Hs_Uniprot =
| Mm_EntrezGene = 17002
| Mm_Ensembl = ENSMUSG00000032496
| Mm_RefseqmRNA = NM_008522
| Mm_RefseqProtein = NP_032548
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 110864108
| Mm_GenLoc_end = 110887582
| Mm_Uniprot = Q3TP24
}}
}}
'''Lactotransferrin''', also known as '''LTF''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = With transferrin (MIM 190000) and melanoma tumor antigen p97 (MIM 155750), lactotransferrin belongs to a family of iron-binding proteins that modulate iron metabolism, hemopoiesis, and immunologic reactions. They are evolutionary products of gene duplication, and all 3 are encoded by genes on 3q.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: LTF lactotransferrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4057| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=van der Strate BW, Beljaars L, Molema G, ''et al.'' |title=Antiviral activities of lactoferrin. |journal=Antiviral Res. |volume=52 |issue= 3 |pages= 225-39 |year= 2002 |pmid= 11675140 |doi= }}
*{{cite journal | author=Weinberg ED |title=Human lactoferrin: a novel therapeutic with broad spectrum potential. |journal=J. Pharm. Pharmacol. |volume=53 |issue= 10 |pages= 1303-10 |year= 2002 |pmid= 11697537 |doi= }}
*{{cite journal | author=Valenti P, Antonini G |title=Lactoferrin: an important host defence against microbial and viral attack. |journal=Cell. Mol. Life Sci. |volume=62 |issue= 22 |pages= 2576-87 |year= 2006 |pmid= 16261253 |doi= 10.1007/s00018-005-5372-0 }}
*{{cite journal | author=Ward PP, Paz E, Conneely OM |title=Multifunctional roles of lactoferrin: a critical overview. |journal=Cell. Mol. Life Sci. |volume=62 |issue= 22 |pages= 2540-8 |year= 2006 |pmid= 16261256 |doi= 10.1007/s00018-005-5369-8 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on NBN... {November 3, 2007 3:03:52 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:05:37 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Nibrin
| HGNCid = 7652
| Symbol = NBN
| AltSymbols =; AT-V1; AT-V2; ATV; FLJ10155; MGC87362; NBS; NBS1
| OMIM = 602667
| ECnumber =
| Homologene = 1858
| MGIid = 1351625
| GeneAtlas_image1 = PBB_GE_NBN_202907_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_NBN_202905_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_NBN_202906_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003684 |text = damaged DNA binding}} {{GNF_GO|id=GO:0008134 |text = transcription factor binding}} {{GNF_GO|id=GO:0047485 |text = protein N-terminus binding}}
| Component = {{GNF_GO|id=GO:0000781 |text = chromosome, telomeric region}} {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005657 |text = replication fork}} {{GNF_GO|id=GO:0005694 |text = chromosome}} {{GNF_GO|id=GO:0030870 |text = Mre11 complex}} {{GNF_GO|id=GO:0042405 |text = nuclear inclusion body}}
| Process = {{GNF_GO|id=GO:0000077 |text = DNA damage checkpoint}} {{GNF_GO|id=GO:0000723 |text = telomere maintenance}} {{GNF_GO|id=GO:0006302 |text = double-strand break repair}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007050 |text = cell cycle arrest}} {{GNF_GO|id=GO:0007095 |text = mitotic cell cycle G2/M transition DNA damage checkpoint}} {{GNF_GO|id=GO:0007126 |text = meiosis}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0030174 |text = regulation of DNA replication initiation}} {{GNF_GO|id=GO:0030330 |text = DNA damage response, signal transduction by p53 class mediator}} {{GNF_GO|id=GO:0031575 |text = G1/S transition checkpoint}} {{GNF_GO|id=GO:0050885 |text = regulation of balance}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4683
| Hs_Ensembl = ENSG00000104320
| Hs_RefseqProtein = NP_001019859
| Hs_RefseqmRNA = NM_001024688
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 8
| Hs_GenLoc_start = 91014740
| Hs_GenLoc_end = 91066075
| Hs_Uniprot = O60934
| Mm_EntrezGene = 27354
| Mm_Ensembl = ENSMUSG00000028224
| Mm_RefseqmRNA = NM_013752
| Mm_RefseqProtein = NP_038780
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 4
| Mm_GenLoc_start = 15885115
| Mm_GenLoc_end = 15919736
| Mm_Uniprot = Q9R207
}}
}}
'''Nibrin''', also known as '''NBN''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: NBN nibrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4683| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kobayashi J, Antoccia A, Tauchi H, ''et al.'' |title=NBS1 and its functional role in the DNA damage response. |journal=DNA Repair (Amst.) |volume=3 |issue= 8-9 |pages= 855-61 |year= 2005 |pmid= 15279770 |doi= 10.1016/j.dnarep.2004.03.023 }}
*{{cite journal | author=Digweed M, Sperling K |title=Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. |journal=DNA Repair (Amst.) |volume=3 |issue= 8-9 |pages= 1207-17 |year= 2005 |pmid= 15279809 |doi= 10.1016/j.dnarep.2004.03.004 }}
*{{cite journal | author=Matsuura S, Kobayashi J, Tauchi H, Komatsu K |title=Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. |journal=Adv. Biophys. |volume=38 |issue= |pages= 65-80 |year= 2004 |pmid= 15493328 |doi= }}
*{{cite journal | author=Zhang Y, Zhou J, Lim CU |title=The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control. |journal=Cell Res. |volume=16 |issue= 1 |pages= 45-54 |year= 2006 |pmid= 16467875 |doi= 10.1038/sj.cr.7310007 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PTPN1... {November 3, 2007 3:05:37 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein PTPN1 image.jpg {November 3, 2007 3:05:51 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:06:01 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PTPN1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1a5y.
| PDB = {{PDB2|1a5y}}, {{PDB2|1aax}}, {{PDB2|1bzc}}, {{PDB2|1bzh}}, {{PDB2|1bzj}}, {{PDB2|1c83}}, {{PDB2|1c84}}, {{PDB2|1c85}}, {{PDB2|1c86}}, {{PDB2|1c87}}, {{PDB2|1c88}}, {{PDB2|1ecv}}, {{PDB2|1een}}, {{PDB2|1eeo}}, {{PDB2|1g1f}}, {{PDB2|1g1g}}, {{PDB2|1g1h}}, {{PDB2|1g7f}}, {{PDB2|1g7g}}, {{PDB2|1gfy}}, {{PDB2|1i57}}, {{PDB2|1jf7}}, {{PDB2|1kak}}, {{PDB2|1kav}}, {{PDB2|1l8g}}, {{PDB2|1lqf}}, {{PDB2|1nl9}}, {{PDB2|1nny}}, {{PDB2|1no6}}, {{PDB2|1nwe}}, {{PDB2|1nwl}}, {{PDB2|1nz7}}, {{PDB2|1oem}}, {{PDB2|1oeo}}, {{PDB2|1oes}}, {{PDB2|1oet}}, {{PDB2|1oeu}}, {{PDB2|1oev}}, {{PDB2|1ony}}, {{PDB2|1onz}}, {{PDB2|1pa1}}, {{PDB2|1ph0}}, {{PDB2|1ptt}}, {{PDB2|1ptu}}, {{PDB2|1ptv}}, {{PDB2|1pty}}, {{PDB2|1pxh}}, {{PDB2|1pyn}}, {{PDB2|1q1m}}, {{PDB2|1q6j}}, {{PDB2|1q6m}}, {{PDB2|1q6n}}, {{PDB2|1q6p}}, {{PDB2|1q6s}}, {{PDB2|1q6t}}, {{PDB2|1qxk}}, {{PDB2|1sug}}, {{PDB2|1t48}}, {{PDB2|1t49}}, {{PDB2|1t4j}}, {{PDB2|1wax}}, {{PDB2|1xbo}}, {{PDB2|2azr}}, {{PDB2|2b07}}, {{PDB2|2b4s}}, {{PDB2|2bgd}}, {{PDB2|2bge}}, {{PDB2|2cm2}}, {{PDB2|2cm3}}, {{PDB2|2cm7}}, {{PDB2|2cm8}}, {{PDB2|2cma}}, {{PDB2|2cmb}}, {{PDB2|2cmc}}, {{PDB2|2cne}}, {{PDB2|2cnf}}, {{PDB2|2cng}}, {{PDB2|2cnh}}, {{PDB2|2cni}}, {{PDB2|2f6f}}, {{PDB2|2f6t}}, {{PDB2|2f6v}}, {{PDB2|2f6w}}, {{PDB2|2f6y}}, {{PDB2|2f6z}}, {{PDB2|2f70}}, {{PDB2|2f71}}, {{PDB2|2fjm}}, {{PDB2|2fjn}}, {{PDB2|2h4g}}, {{PDB2|2h4k}}, {{PDB2|2hb1}}, {{PDB2|2hnp}}, {{PDB2|2hnq}}, {{PDB2|2nt7}}, {{PDB2|2nta}}
| Name = Protein tyrosine phosphatase, non-receptor type 1
| HGNCid = 9642
| Symbol = PTPN1
| AltSymbols =; PTP1B
| OMIM = 176885
| ECnumber =
| Homologene = 2119
| MGIid = 97805
| Function = {{GNF_GO|id=GO:0004725 |text = protein tyrosine phosphatase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0006470 |text = protein amino acid dephosphorylation}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0008286 |text = insulin receptor signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5770
| Hs_Ensembl = ENSG00000196396
| Hs_RefseqProtein = NP_002818
| Hs_RefseqmRNA = NM_002827
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 48560294
| Hs_GenLoc_end = 48634706
| Hs_Uniprot = P18031
| Mm_EntrezGene = 19246
| Mm_Ensembl = ENSMUSG00000027540
| Mm_RefseqmRNA = NM_011201
| Mm_RefseqProtein = NP_035331
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 167623614
| Mm_GenLoc_end = 167668115
| Mm_Uniprot = Q3T9Y9
}}
}}
'''Protein tyrosine phosphatase, non-receptor type 1''', also known as '''PTPN1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation.<ref>{{cite web | title = Entrez Gene: PTPN1 protein tyrosine phosphatase, non-receptor type 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5770| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on RUNX2... {November 3, 2007 2:46:28 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:47:43 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB = {{PDB2|1cmo}}, {{PDB2|1co1}}, {{PDB2|1e50}}, {{PDB2|1h9d}}, {{PDB2|1hjb}}, {{PDB2|1hjc}}, {{PDB2|1io4}}, {{PDB2|1ljm}}
| Name = Runt-related transcription factor 2
| HGNCid = 10472
| Symbol = RUNX2
| AltSymbols =; AML3; CBFA1; CCD; CCD1; MGC120022; MGC120023; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
| OMIM = 600211
| ECnumber =
| Homologene = 68389
| MGIid = 99829
| GeneAtlas_image1 = PBB_GE_RUNX2_216994_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_RUNX2_221282_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003682 |text = chromatin binding}} {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016563 |text = transcription activator activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0001649 |text = osteoblast differentiation}} {{GNF_GO|id=GO:0002062 |text = chondrocyte differentiation}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0016481 |text = negative regulation of transcription}} {{GNF_GO|id=GO:0040036 |text = regulation of fibroblast growth factor receptor signaling pathway}} {{GNF_GO|id=GO:0042487 |text = regulation of odontogenesis (sensu Vertebrata)}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0048469 |text = cell maturation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 860
| Hs_Ensembl = ENSG00000124813
| Hs_RefseqProtein = NP_001015051
| Hs_RefseqmRNA = NM_001015051
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 6
| Hs_GenLoc_start = 45404038
| Hs_GenLoc_end = 45626796
| Hs_Uniprot = Q13950
| Mm_EntrezGene = 12393
| Mm_Ensembl = ENSMUSG00000039153
| Mm_RefseqmRNA = NM_009820
| Mm_RefseqProtein = NP_033950
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 44070960
| Mm_GenLoc_end = 44198674
| Mm_Uniprot = Q08775
}}
}}
'''Runt-related transcription factor 2''', also known as '''RUNX2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing.<ref>{{cite web | title = Entrez Gene: RUNX2 runt-related transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=860| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Otto F, Kanegane H, Mundlos S |title=Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. |journal=Hum. Mutat. |volume=19 |issue= 3 |pages= 209-16 |year= 2002 |pmid= 11857736 |doi= 10.1002/humu.10043 }}
*{{cite journal | author=Komori T |title=[Cbfa1/Runx2, an essential transcription factor for the regulation of osteoblast differentiation] |journal=Nippon Rinsho |volume=60 Suppl 3 |issue= |pages= 91-7 |year= 2002 |pmid= 11979975 |doi= }}
*{{cite journal | author=Stock M, Otto F |title=Control of RUNX2 isoform expression: the role of promoters and enhancers. |journal=J. Cell. Biochem. |volume=95 |issue= 3 |pages= 506-17 |year= 2005 |pmid= 15838892 |doi= 10.1002/jcb.20471 }}
*{{cite journal | author=Blyth K, Cameron ER, Neil JC |title=The RUNX genes: gain or loss of function in cancer. |journal=Nat. Rev. Cancer |volume=5 |issue= 5 |pages= 376-87 |year= 2005 |pmid= 15864279 |doi= 10.1038/nrc1607 }}
*{{cite journal | author=Schroeder TM, Jensen ED, Westendorf JJ |title=Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. |journal=Birth Defects Res. C Embryo Today |volume=75 |issue= 3 |pages= 213-25 |year= 2005 |pmid= 16187316 |doi= 10.1002/bdrc.20043 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TIMP2... {November 3, 2007 3:06:02 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein TIMP2 image.jpg {November 3, 2007 3:06:46 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 3:06:56 PM PDT}
- CREATED: Created new protein page: TIMP2 {November 3, 2007 3:07:04 PM PDT}
- INFO: Beginning work on VIM... {November 3, 2007 3:07:04 PM PDT}
- UPLOAD: Added new Image to wiki:
{November 3, 2007 3:07:41 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 3:07:52 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_VIM_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1gk4.
| PDB = {{PDB2|1gk4}}, {{PDB2|1gk7}}
| Name = Vimentin
| HGNCid = 12692
| Symbol = VIM
| AltSymbols =; FLJ36605
| OMIM = 193060
| ECnumber =
| Homologene = 2538
| MGIid = 98932
| GeneAtlas_image1 = PBB_GE_VIM_201426_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005882 |text = intermediate filament}}
| Process = {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0045103 |text = intermediate filament-based process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7431
| Hs_Ensembl = ENSG00000026025
| Hs_RefseqProtein = NP_003371
| Hs_RefseqmRNA = NM_003380
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 17311283
| Hs_GenLoc_end = 17319598
| Hs_Uniprot = P08670
| Mm_EntrezGene = 22352
| Mm_Ensembl = ENSMUSG00000026728
| Mm_RefseqmRNA = NM_011701
| Mm_RefseqProtein = NP_035831
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 13491805
| Mm_GenLoc_end = 13500660
| Mm_Uniprot = Q3TFD9
}}
}}
'''Vimentin''', also known as '''VIM''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Along with the microfilaments (actins) and microtubules (tubulins), the intermediate filaments represent a third class of well-characterized cytoskeletal elements. The subunits display a tissue-specific pattern of expression. Desmin (MIM 125660) is the subunit specific for muscle and vimentin the subunit specific for mesenchymal tissue.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: VIM vimentin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7431| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Snásel J, Pichová I |title=The cleavage of host cell proteins by HIV-1 protease. |journal=Folia Biol. (Praha) |volume=42 |issue= 5 |pages= 227-30 |year= 1997 |pmid= 8997639 |doi= }}
*{{cite journal | author=Lake JA, Carr J, Feng F, ''et al.'' |title=The role of Vif during HIV-1 infection: interaction with novel host cellular factors. |journal=J. Clin. Virol. |volume=26 |issue= 2 |pages= 143-52 |year= 2003 |pmid= 12600646 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on XRCC6... {November 3, 2007 2:59:26 PM PDT}
- SEARCH REDIRECT: Control Box Found: XRCC6 {November 3, 2007 2:59:53 PM PDT}
- UPDATE PROTEIN BOX: Updating Protein Box, No errors. {November 3, 2007 2:59:55 PM PDT}
- UPDATE SUMMARY: Updating Summary, No Errors. {November 3, 2007 2:59:55 PM PDT}
- UPDATE CITATIONS: Updating Citations, No Errors. {November 3, 2007 2:59:55 PM PDT}
- UPDATED: Updated protein page: XRCC6 {November 3, 2007 3:00:00 PM PDT}
end log.
