DPAGT1

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DPAGT1
Identifiers
AliasesDPAGT1, ALG7, CDG-Ij, CDG1J, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, CMS13, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
External IDsMGI: 1196396 HomoloGene: 1058 GeneCards: DPAGT1
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for DPAGT1
Genomic location for DPAGT1
Band11q23.3Start119,096,503 bp[1]
End119,108,331 bp[1]
RNA expression pattern
PBB GE DPAGT1 212525 s at fs.png

PBB GE DPAGT1 209509 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001382
NM_203316

NM_007875
NM_001364464

RefSeq (protein)

NP_001373

NP_031901
NP_001351393

Location (UCSC)Chr 11: 119.1 – 119.11 MbChr 9: 44.33 – 44.33 Mb
PubMed search[3][4]
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.[5][6]

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. PMC 4035711. 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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172269 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032123 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ a b "Entrez Gene: DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)".

Further reading[edit]

External links[edit]