CAV1 wt Allele

Preferred Label : CAV1 wt Allele;

NCIt synonyms : Caveolin-1 Gene; Caveolin 1, Beta Isoform Gene; CGL3; Caveolae Protein, 22-kD Gene; Caveolin 1, Alpha Isoform Gene; VIP21; BSCL3; LCCNS; Caveolin 1 wt Allele; Caveolin 1, Caveolae Protein, 22kD Gene; MSTP085; Caveolin 1, Caveolae Protein, 22kDa Gene; PPH3;

NCIt definition : Human CAV1 wild-type allele is located in the vicinity of 7q31.1 and is approximately 36 kb in length. This allele, which encodes caveolin-1 protein, is involved in the regulation of both the structural and functional status of caveolae.;

GenBank Accession Number : NM_001753;

Details

Origin ID

C52496;

UMLS CUI

C1707074;

Automatic exact mappings (from CISMeF team)
- Lipodystrophy, congenital generalized, type 3 [OMIM Phenotype]
- Lipodystrophy, familial partial, type 7 [OMIM Phenotype]
- Pulmonary hypertension, primary, 3 [OMIM Phenotype]
- caveolin 1 [MeSH Descriptor]
- lipodystrophy, congenital generalized, type 3 [MeSH Supplementary Concept]
OMIM relation
- Caveolin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 7: 115758790-115795181 [NCIt concept]
gene_in_chromosomal_location
- 7q31.1 [NCIt concept]
gene_is_element_in_pathway
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Canonical Wnt Signaling Pathway [NCIt concept]
- Corticosteroid Cardioprotection Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Insulin Pathway [NCIt concept]
- Integrin Signaling Pathway [NCIt concept]
- Ion Channels in Vascular Endothelium Pathway [NCIt concept]
- Nitric Oxide Pathway [NCIt concept]
- PDGFR-alpha Signaling Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
- TGF-Beta Receptor Signaling Pathway [NCIt concept]
- TNF Receptor Family Signaling Pathway [NCIt concept]
- VEGFR1 Signaling Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Receptor Mediated Endocytosis [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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