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Protein-coding gene in the species Homo sapiens
Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene .[5]
Function [ edit ]
Dolichol-phosphate mannose (Dol-P-Man ) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins, defective N -linked glycosylation and deficient O -mannosylation of α-dystroglycan . Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase . The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C-terminus . This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1.[5]
Clinical significance [ edit ]
Mutations in this gene are associated with congenital disorder of glycosylation .
References [ edit ]
Further reading [ edit ]
Suzuki H, Fukunishi Y, Kagawa I, et al. (2001). "Protein-protein interaction panel using mouse full-length cDNAs" . Genome Res . 11 (10): 1758–65. doi :10.1101/gr.180101 . PMC 311163 . PMID 11591653 .
Maeda Y, Tanaka S, Hino J, et al. (2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3" . EMBO J . 19 (11): 2475–82. doi :10.1093/emboj/19.11.2475 . PMC 212771 . PMID 10835346 .
Watanabe R, Murakami Y, Marmor MD, et al. (2000). "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2" . EMBO J . 19 (16): 4402–11. doi :10.1093/emboj/19.16.4402 . PMC 302040 . PMID 10944123 .
Kinoshita T, Inoue N (2000). "Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis". Curr Opin Chem Biol . 4 (6): 632–8. doi :10.1016/s1367-5931(00)00151-4 . PMID 11102867 .
Ashida H, Maeda Y, Kinoshita T (2006). "DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3" . J. Biol. Chem . 281 (2): 896–904. doi :10.1074/jbc.M511311200 . PMID 16280320 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Lennon G, Auffray C, Polymeropoulos M, Soares MB (1996). "The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression" . Genomics . 33 (1): 151–2. doi :10.1006/geno.1996.0177 . PMID 8617505 .
Maeda Y, Tomita S, Watanabe R, et al. (1998). "DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate" . EMBO J . 17 (17): 4920–9. doi :10.1093/emboj/17.17.4920 . PMC 1170821 . PMID 9724629 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .