Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
857
Gene name Gene Name - the full gene name approved by the HGNC.
Caveolin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAV1
Synonyms (NCBI Gene) Gene synonyms aliases
BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434501 G>T Pathogenic Coding sequence variant, stop gained
rs370105972 G>T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs587777017 A>- Pathogenic Coding sequence variant, frameshift variant
rs587780295 TT>A Pathogenic Coding sequence variant, frameshift variant
rs797044871 TT>- Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000753 hsa-miR-34b-5p Review, Microarray 19461653
MIRT000752 hsa-miR-34c-5p Review, Microarray 19461653
MIRT002719 hsa-miR-124-3p Microarray 15685193
MIRT006428 hsa-miR-103a-3p Luciferase reporter assay, Microarray 21654750
MIRT006428 hsa-miR-103a-3p Luciferase reporter assay, Microarray 21654750
Transcription factors
Transcription factor Regulation Reference
GATA6 Repression 21514437
PPARG Unknown 17764562
SP1 Unknown 10684646
SREBF1 Repression 19808659
TFDP1 Unknown 10684646
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000139 Component Golgi membrane IDA 11294831
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601047 1527 ENSG00000105974
Protein
UniProt ID Q03135
Protein name Caveolin-1
Protein function May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4)
PDB 7SC0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01146 Caveolin 42 175 Caveolin Family
Tissue specificity TISSUE SPECIFICITY: Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Expressed in the brain. {ECO:0000269|PubMed:19262564}.
Sequence
Sequence length 178
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis
Focal adhesion
Prion disease
Bacterial invasion of epithelial cells
Proteoglycans in cancer
Viral myocarditis
Fluid shear stress and atherosclerosis
  eNOS activation
NOSTRIN mediated eNOS trafficking
Basigin interactions
Disassembly of the destruction complex and recruitment of AXIN to the membrane
VEGFR2 mediated vascular permeability
Extra-nuclear estrogen signaling
FOXO-mediated transcription of cell cycle genes
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Lipodystrophy Congenital generalized lipodystrophy type 3 rs797045176, rs121434501 N/A
Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome rs797044871, rs797045176, rs121434501, rs879255578 N/A
Pulmonary Hypertension pulmonary hypertension, primary, 3 rs587777017, rs879255566, rs587780295 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis N/A N/A ClinVar, GenCC
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 18237401
Acute Lung Injury Associate 35933468
Adenocarcinoma Stimulate 22200856
Adenocarcinoma Associate 24885118, 31512057
Adenocarcinoma Follicular Associate 23023191
Adenocarcinoma of Lung Associate 22200856, 29266838, 32669531, 33870858, 33979320, 35635202, 37189138, 40682067
Adenocarcinoma of Lung Inhibit 30604627
Adenoma Pleomorphic Associate 26323261
Alzheimer Disease Associate 33773368
Ameloblastoma Associate 24782297