DPM3

DPM3
Identifiers
Aliases	DPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3, dolichyl-phosphate mannosyltransferase subunit 3, regulatory, MDDGB15, MDDGC15
External IDs	OMIM: 605951 MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q22 Start 155,139,891 bp[1] End 155,140,595 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 89,166,665 bp[2] End 89,174,386 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary right adrenal gland right uterine tube monocyte body of pancreas canal of the cervix right lobe of liver right lobe of thyroid gland left lobe of thyroid gland body of stomach Top expressed in intestinal villus yolk sac lip esophagus ankle joint interventricular septum superior frontal gyrus corneal stroma blastocyst morula More reference expression data BioGPS n/a
Gene ontology Molecular function dolichyl-phosphate beta-D-mannosyltransferase activity protein binding Cellular component integral component of membrane dolichol-phosphate-mannose synthase complex integral component of endoplasmic reticulum membrane mannosyltransferase complex endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein glycosylation GPI anchor biosynthetic process protein mannosylation protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan regulation of protein stability protein O-linked mannosylation protein N-linked glycosylation via asparagine carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 3: 89.17 – 89.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

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

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

• v
• t
• e

This page was last edited on 19 January 2024, at 12:37