DPM3

Protein-coding gene in the species Homo sapiens
DPM3
Identifiers
AliasesDPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3, dolichyl-phosphate mannosyltransferase subunit 3, regulatory, MDDGB15, MDDGC15
External IDsOMIM: 605951; MGI: 1915813; HomoloGene: 17810; GeneCards: DPM3; OMA:DPM3 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for DPM3
Genomic location for DPM3
Band1q22Start155,139,891 bp[1]
End155,140,595 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for DPM3
Genomic location for DPM3
Band3|3 F1Start89,166,665 bp[2]
End89,174,386 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • anterior pituitary

  • left adrenal cortex

  • right adrenal gland

  • right uterine tube

  • right adrenal cortex

  • monocyte

  • body of pancreas

  • canal of the cervix

  • right lobe of liver
Top expressed in
  • intestinal villus

  • blastocyst

  • Ileal epithelium

  • choroid plexus of fourth ventricle

  • yolk sac

  • lip

  • right kidney

  • esophagus

  • lactiferous gland

  • ventricular zone
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
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: 89.17 – 89.17 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000179085 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042737 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "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" (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

  • 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.


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2.4.1: Hexosyl-
transferases
Glucosyl-
Galactosyl-
Glucuronosyl-
Fucosyl-
Mannosyl-
2.4.2: Pentosyl-
transferases
Ribose
ADP-ribosyltransferase
Phosphoribosyltransferase
Other
Other
2.4.99: Sialyl
transferases
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