DPM3

DPM3
Identifiers
AliasesDPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3
External IDsMGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q22Start155,139,891 bp[1]
End155,140,595 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

54344

68563

Ensembl

ENSG00000179085

ENSMUSG00000042737

UniProt

Q9P2X0
Q86TM7

Q9D1Q4

RefSeq (mRNA)

NM_153741
NM_018973

NM_026767

RefSeq (protein)

NP_061846
NP_714963
NP_714963.1

NP_081043

Location (UCSC)Chr 1: 155.14 – 155.14 MbChr 3: 89.26 – 89.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000179085 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042737 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3".
  6. ↑ 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.
  7. ↑ Haeuptle MA, Hennet T (December 2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides". Hum. Mutat. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844.

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. 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.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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