GNB1 wt Allele

Preferred Label : GNB1 wt Allele;

NCIt synonyms : GBB1; Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1 wt Allele; Guanine Nucleotide-Binding Protein, Beta-1 Gene; G Protein Subunit Beta 1 wt Allele; Transducin, Beta Polypeptide Gene; MRD42;

NCIt definition : Human GNB1 wild-type allele is located in the vicinity of 1p36.33 and is approximately 106 kb in length. This allele, which encodes guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 protein, plays a role in G-protein coupled receptor signal modulation.;

GenBank Accession Number : NM_002074;

Details

Origin ID

C52665;

UMLS CUI

C1708134;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, autosomal dominant 42 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 42 [DO Concept]
OMIM relation
- Guanine nucleotide-binding protein, beta-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 1854657-1748892 [NCIt concept]
gene_in_chromosomal_location
- 1p36.33 [NCIt concept]
gene_is_element_in_pathway
- Chemokine Signaling Pathway [NCIt concept]
- Olfactory Transduction Pathway [NCIt concept]
- Phototransduction Pathway [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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