VAMP1 wt Allele

Preferred Label : VAMP1 wt Allele;

NCIt synonyms : VAMP-1; Vesicle-Associated Membrane Protein 1 (Synaptobrevin 1) wt Allele; SYB1;

NCIt definition : Human VAMP1 wild-type allele is located within 12p and is approximately 9 kb in length. This allele, which encodes vesicle-associated membrane protein 1, plays a role in the secretion of neurotransmitters.;

NCIt note : Ensembl reports the location of the VAMP1 gene in the vicinity of 12p13.31.; Mutation of the VAMP1 gene may be associated with dominantly inherited hereditary spastic ataxia. (Am J Hum Genet. 2012; 91:548-552.);

GenBank Accession Number : NM_014231;

Details

Origin ID

C106096;

UMLS CUI

C3811805;

Automatic exact mappings (from CISMeF team)
- Vesicle-associated membrane protein 1 [OMIM gene]
- vesicle associated membrane protein 1 [ORDO Gene]
- vesicle-associated membrane protein 1 [MeSH Descriptor]
OMIM relation
- Vesicle-associated membrane protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p [NCIt concept]
gene_is_element_in_pathway
- SNARE Proteins Vesicular Transport Pathway [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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