DPAGT1 wt Allele

Preferred Label : DPAGT1 wt Allele;

NCIt synonyms : UAGT; ALG7; CDG1J; UGAT; DGPT; Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1 wt Allele; CMS13; GPT; G1PT; DPAGT2; CMSTA2; UDP-GlcNAc:Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase Gene; Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-Acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) Gene; Dolichyl-Phosphate N-Acetylglucosamine Phosphotransferase 1 Gene; DPAGT; D11S366; CDG-Ij;

NCIt definition : Human DPAGT1 wild-type allele is located in the vicinity of 11q23.3 and is approximately 14 kb in length. This allele, which encodes UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase protein, plays a role in glycoprotein synthesis. Mutation of the gene is associated with congenital disorder of glycosylation type 1j.;

NCI Metathesaurus CUI : CL1905254;

GenBank Accession Number : Z82022;

Details

Origin ID

C191668;

UMLS CUI

C5780796;

Automatic exact mappings (from CISMeF team)
- DPAGT1-CDG [ORDO Disease]
OMIM relation
- Dolichyl-phosphate n-acetylglucosamine phosphotransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23.3 [NCIt concept]
gene_is_element_in_pathway
- N-Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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