RIMS1 wt Allele

Preferred Label : RIMS1 wt Allele;

NCIt synonyms : RIM; CORD7; RIM1; KIAA0340; Regulating Synaptic Membrane Exocytosis 1 wt Allele; Nbla00761; RAB3IP2;

NCIt definition : Human RIMS1 wild-type allele is located in the vicinity of 6q13 and is approximately 517 kb in length. This allele, which encodes regulating synaptic membrane exocytosis protein 1, is involved in release of neurotransmitters and insulin. Mutation of the gene is associated with cone-rod dystrophy 7.;

NCI Metathesaurus CUI : CL1773111;

GenBank Accession Number : AB002338;

Details

Origin ID

C185055;

UMLS CUI

C5575294;

Automatic exact mappings (from CISMeF team)
- Cone-rod dystrophy 7 [OMIM Phenotype]
- Protein regulating synaptic membrane exocytosis 1 [OMIM gene]
- RB binding protein 8, endonuclease [ORDO Gene]
- Retinoblastoma-binding protein 8 [OMIM gene]
- cone-rod dystrophy 7 [DO Concept]
- reaction injection moulding [IUPAC Term]
- reactive blending [IUPAC Term]
- regulating synaptic membrane exocytosis 1 [ORDO Gene]
- rim 1 [MeSH Supplementary Concept]
OMIM relation
- Protein regulating synaptic membrane exocytosis 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q13 [NCIt concept]
gene_is_element_in_pathway
- Botulinum Toxin Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Regulation of Exocytosis [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
- Visual Perception [NCIt concept]

Keyword's position in hierarchy(ies) :

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