DPM3

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DPM3
Identifiers
Aliases DPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3
External IDs MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb Chr 3: 89.26 – 89.27 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.[3][4]

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. 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.[3]

Clinical significance[edit]

Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3". 
  4. ^ 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. PMC 212771Freely accessible. PMID 10835346. doi:10.1093/emboj/19.11.2475. 
  5. ^ 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. PMID 19862844. doi:10.1002/humu.21126. 

Further reading[edit]

External links[edit]

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