Gene Gene information from NCBI Gene database.
Entrez ID 857
Gene name Caveolin 1
Gene symbol CAV1
Synonyms (NCBI Gene)
BSCL3CGL3LCCNSMSTP085PPH3VIP21
Chromosome 7
Chromosome location 7q31.2
Summary 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.
8
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.
610
miRTarBase ID miRNA Experiments Reference
MIRT000753 hsa-miR-34b-5p ReviewMicroarray 19461653
MIRT000752 hsa-miR-34c-5p ReviewMicroarray 19461653
MIRT002719 hsa-miR-124-3p Microarray 15685193
MIRT006428 hsa-miR-103a-3p Luciferase reporter assayMicroarray 21654750
MIRT006428 hsa-miR-103a-3p Luciferase reporter assayMicroarray 21654750
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
GATA6 Repression 21514437
PPARG Unknown 17764562
SP1 Unknown 10684646
SREBF1 Repression 19808659
TFDP1 Unknown 10684646
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
219
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601047 1527 ENSG00000105974
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
58
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CAV1-related disorder Likely pathogenic rs2485219428 RCV003404452
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital generalized lipodystrophy type 3 Pathogenic rs797044871, rs797045176, rs121434501, rs2485218609 RCV000191044
RCV000191043
RCV000008988
RCV003152354
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Pathogenic; Likely pathogenic rs2116116365, rs879255578, rs797044871, rs797045176, rs121434501, rs2485219617 RCV002249329
RCV000186515
RCV000766129
RCV000766128
RCV002247278
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary hypertension, primary, 3 Pathogenic; Likely pathogenic rs587780295, rs2116117201, rs797044871, rs587777017, rs879255566 RCV000116581
RCV001984115
RCV000191044
RCV000050248
RCV000050249
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity ClinVar
ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 30233709
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 31769542
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 20881564, 23354516
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12414512, 15069532, 17786288, 18444242, 18802406
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15069532, 15331180, 19614763, 21165568, 27771795, 28243118, 29850392, 31512057
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 15069532, 18444242
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28243118
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22200856, 22406084, 23677397, 26094077, 27771795, 28099944, 28229621, 29137977, 30604627
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 15969750
★☆☆☆☆
Found in Text Mining only