DPAGT1

DPAGT1
Identifiers
Aliases DPAGT1, ALG7, CDG-Ij, CDG1J, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, CMS13, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
External IDs MGI: 1196396 HomoloGene: 1058 GeneCards: DPAGT1
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

1798

13478

Ensembl

ENSG00000172269

ENSMUSG00000032123

UniProt

Q9H3H5

P42867

RefSeq (mRNA)

NM_001382
NM_203316

NM_007875

RefSeq (protein)

NP_001373.2

NP_031901.2

Location (UCSC) Chr 11: 119.1 – 119.11 Mb Chr 9: 44.33 – 44.33 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

UDP-N-acetylglucosamine—dolichyl-phosphate N-acetylglucosaminephosphotransferase is an enzyme that in humans is encoded by the DPAGT1 gene.[3][4]

Mutations in DPAGT1 cause myasthenia .Selcen, D; Shen, X. M.; Brengman, J; Li, Y; Stans, A. A.; Wieben, E; Engel, A. G. (2014). "DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies". Neurology. 82 (20): 1822–30. doi:10.1212/WNL.0000000000000435. PMID 24759841. 

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway (also see Genetic pathway) for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. Alternatively spliced transcript variants encoding different isoforms have been identified.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Smith MW, Clark SP, Hutchinson JS, Wei YH, Churukian AC, Daniels LB, Diggle KL, Gen MW, Romo AJ, Lin Y, et al. (Dec 1993). "A sequence-tagged site map of human chromosome 11". Genomics. 17 (3): 699–725. doi:10.1006/geno.1993.1392. PMID 8244387.
  4. 1 2 "Entrez Gene: DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)".

Further reading

External links


This article is issued from Wikipedia - version of the 6/6/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.