Protein-coding gene in the species Homo sapiens
dolichyl-phosphate mannosyltransferase polypeptide 3 , also known as DPM3 , is a human gene .[5] [6]
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.[5]
Clinical significance Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000179085 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042737 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3" .^ Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (June 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 . ^ Haeuptle MA, Hennet T (December 2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides" (PDF) . Hum. Mutat . 30 (12): 1628–41. doi :10.1002/humu.21126 . PMID 19862844 . S2CID 46281092 . Archived from the original (PDF) on 2021-05-18. Retrieved 2019-12-11 .
Further reading
Maeda Y, Watanabe R, Harris CL, et al. (2001). "PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER" . EMBO J . 20 (1–2): 250–61. doi :10.1093/emboj/20.1.250 . PMC 140182 PMID 11226175 . 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 . 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 . 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 . Manos EJ, Kim ML, Kassis J, et al. (2001). "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. doi :10.1038/sj.onc.1204379 . PMID 11420690 . S2CID 24726733 . Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 .
External links This article incorporates text from the United States National Library of Medicine , which is in the public domain .
Activity Regulation Classification Kinetics Types
