SAR1B wt Allele

Preferred Label : SAR1B wt Allele;

NCIt synonyms : ANDD; SAR1, S. cerevisiae, Homolog B Gene; SAR1a Gene Homolog (S. cerevisiae) 2 Gene; SAR1a Gene Homolog 2 (S. cerevisiae) Gene; SARB; SAR1 Homolog B (S. cerevisiae) Gene; Secretion Associated, Ras Related GTPase 1B wt Allele; SAR1a Gene Homolog 2; SARA2; SAR1A, S. cerevisiae, Homolog 2 Gene; CMRD; GTBPB;

NCIt definition : Human SAR1B wild-type allele is located in the vicinity of 5q31.1 and is approximately 48 kb in length. This allele, which encodes GTP-binding protein SAR1b, is involved in both GTPase activity and vesicle transport. Mutation and variation of the gene is associated with chylomicron retention disease.;

GenBank Accession Number : AF092130;

Details

Origin ID

C116421;

UMLS CUI

C3890601;

Automatic exact mappings (from CISMeF team)
- Chylomicron retention disease [ORDO Disease]
- Chylomicron retention disease [OMIM Phenotype]
- Chylomicron retention disease [ICD-11 More detail]
- Secretion-associated ras-related gtpase 1b [OMIM gene]
- chylomicron retention disease [DO Concept]
- secretion associated Ras related GTPase 1B [ORDO Gene]
OMIM relation
- Secretion-associated ras-related gtpase 1b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31.1 [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

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