Biology:DPM3
 Generic protein structure example |
dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.[1][2]
Function
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. 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 subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex.[1]
Clinical significance
Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[3]
References
- ↑ 1.0 1.1 "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54344.
- ↑ "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475–82. June 2000. doi:10.1093/emboj/19.11.2475. PMID 10835346.
- ↑ "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides". Hum. Mutat. 30 (12): 1628–41. December 2009. doi:10.1002/humu.21126. PMID 19862844. https://www.zora.uzh.ch/id/eprint/25758/4/Haeuptle_Hennet-HumMut_2009.pdf. Retrieved 2019-12-11.
Further reading
- "PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.". EMBO J. 20 (1–2): 250–61. 2001. doi:10.1093/emboj/20.1.250. PMID 11226175.
- "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. 2006. doi:10.1074/jbc.M511311200. PMID 16280320.
- "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.". EMBO J. 19 (11): 2475–82. 2000. doi:10.1093/emboj/19.11.2475. PMID 10835346.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel phospholipase C-gamma regulated gene negatively associated with prostate tumor invasion.". Oncogene 20 (22): 2781–90. 2001. doi:10.1038/sj.onc.1204379. PMID 11420690.
- "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. 2006. doi:10.1038/nature04727. PMID 16710414. Bibcode: 2006Natur.441..315G.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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