CAV1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CAV1 gene, its protein product caveolin-1, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CAV1 |
|---|---|
| Full Name | Caveolin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 857 ncbi.nlm.nih.gov/gene/857 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q03135 |
| OMIM ID | 601047 |
| HGNC ID | 1527 |
| Aliases | Cav-1, VIP21, BSCL3, PPH3 |
Description
The CAV1 gene encodes caveolin-1, a scaffolding protein that is a principal component of caveolae, small invaginations of the plasma membrane. Caveolin-1 plays critical roles in signal transduction, lipid metabolism, endocytosis, and mechanotransduction. It is involved in vesicular transport and acts as a tumor suppressor in some contexts but can also promote tumor progression in others. Mutations in CAV1 are associated with congenital lipodystrophy, pulmonary hypertension, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital generalized lipodystrophy type 3 | Loss-of-function mutations lead to impaired caveolae formation and disrupted lipid droplet regulation, causing lipodystrophy. | OMIM: 612526; ClinVar: pathogenic variants |
| Primary pulmonary hypertension | Mutations in CAV1 impair endothelial nitric oxide synthase (eNOS) regulation, leading to vascular remodeling and increased pulmonary arterial pressure. | OMIM: 601047; ClinVar: pathogenic variants |
| Breast cancer | CAV1 expression is downregulated in many breast cancers; loss of caveolin-1 promotes tumor progression and metastasis. | COSMIC: somatic mutations; multiple studies |
| Prostate cancer | CAV1 overexpression in prostate cancer correlates with poor prognosis and androgen-independent growth. | COSMIC: somatic mutations; multiple studies |
| Lung cancer | CAV1 mutations and altered expression are observed; role is context-dependent, with both tumor-suppressive and oncogenic effects. | COSMIC: somatic mutations; multiple studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Lung | High | High |
| Skeletal muscle | Moderate | Moderate |
| Heart | Moderate | Moderate |
| Liver | Low | Low |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high CAV1 expression |
| A549 | High | Lung carcinoma cell line; high CAV1 expression |
| MCF7 | Low | Breast cancer cell line; low CAV1 expression |
| HUVEC | High | Endothelial cells; high CAV1 expression |
| HepG2 | Low | Liver cancer cell line; low CAV1 expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Pro132Leu | Missense | Rare | Associated with congenital generalized lipodystrophy; disrupts caveolae formation |
| p.Arg107Ter | Nonsense | Rare | Loss-of-function; causes lipodystrophy and pulmonary hypertension |
| p.Gly56Ser | Missense | Rare | Reported in primary pulmonary hypertension; affects protein stability |
| p.Val57Leu | Missense | Rare | Associated with pulmonary hypertension; impairs eNOS regulation |
| p.Leu132Pro | Missense | Rare | Lipodystrophy; disrupts caveolin-1 oligomerization |
Mutation functional classification
Loss of Function (LOF)
Most CAV1 mutations in lipodystrophy and pulmonary hypertension are loss-of-function, leading to reduced caveolae formation and impaired signaling.
Gain of Function (GOF)
In certain cancers, CAV1 overexpression or activating mutations may promote oncogenic signaling, but specific gain-of-function mutations are not well characterized.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting oligomerization of wild-type caveolin-1, as seen in lipodystrophy.
View complete mutation data：
Gene Ontology (GO)
| • caveola | • plasma membrane |
| • protein binding | • signal transduction |
| • lipid binding | • cholesterol binding |
| • scaffold protein | • vesicle-mediated transport |
| • negative regulation of cell proliferation | • positive regulation of cell migration |
Pathways
• Caveolar-mediated endocytosis
• VEGF signaling pathway
• eNOS signaling
• Insulin signaling
• TGF-beta signaling
• p53 signaling
• MAPK signaling
Protein Summary
Caveolin-1 is a 22 kDa integral membrane protein that forms oligomers and inserts into the inner leaflet of the plasma membrane, inducing curvature to form caveolae. It contains a scaffolding domain that interacts with signaling molecules such as G-proteins, receptor tyrosine kinases, and eNOS, modulating their activity. Caveolin-1 is essential for lipid homeostasis, mechanotransduction, and cell migration. Its expression is tissue-specific, with high levels in adipocytes, endothelial cells, and smooth muscle cells. Post-translational modifications include palmitoylation and phosphorylation, which regulate its function. In cancer, caveolin-1 exhibits dual roles: it can suppress tumor growth by inhibiting proliferative signaling, but in advanced stages, it may promote invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Cav1.2 α1C/β2a/α2δ1 Overexpression HEK293 Stable Cell Line | EDJ-GQ56 | Human | Details Get a Quote | |
| CAV1 Knockout HEK293 Cell Line | EDJ-KQ977 | Human | 857 | Details Get a Quote |
| CAV1 Knockout A-549 Cell Line | EDJ-KQ19995 | Human | 857 | Details Get a Quote |
| CAV1 Knockout HCT 116 Cell Line | EDJ-KQ19996 | Human | 857 | Details Get a Quote |
| CAV1 Knockout HeLa Cell Line | EDJ-KQ19997 | Human | 857 | Details Get a Quote |
| CAV1 Knockout MCF-7 Cell Line | EDJ-KZ13 | Human | 857 | Details Get a Quote |
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