DPM1 wt Allele

Preferred Label : DPM1 wt Allele;

NCIt synonyms : Dolichol Monophosphate Mannose Synthase Gene; MPDS; DPM Synthase Complex, Catalytic Subunit Gene; Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic wt Allele; MPD Synthase Gene; CDGIE;

NCIt definition : Human DPM1 wild-type allele is located in the vicinity of 20q13.13 and is approximately 24 kb in length. This allele, which encodes dolichol-phosphate mannosyltransferase subunit 1, is involved in N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins. Mutation of the gene is associated with congenital disorder of glycosylation type 1e.;

NCI Metathesaurus CUI : CL1905260;

GenBank Accession Number : AF007875;

Details

Origin ID

C191664;

UMLS CUI

C5780734;

Automatic exact mappings (from CISMeF team)
- DPM1-CDG [ORDO Disease]
OMIM relation
- Dolichyl-phosphate mannosyltransferase 1, catalytic subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.13 [NCIt concept]
gene_is_element_in_pathway
- N-Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

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