Caveolin-1

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) to the caveolae (PubMed:19262564). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity).

Lipodystrophy, congenital generalized, 3

CGL3

A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Pulmonary hypertension, primary, 3

PPH3

A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

None

The disease is caused by variants affecting the gene represented in this entry.

Lipodystrophy, familial partial, 7

FPLD7

A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction.

None

The disease is caused by variants affecting the gene represented in this entry.

Ubiquitinated. Undergo monoubiquitination and multi- and/or polyubiquitination (PubMed:21822278). Monoubiquitination of N-terminal lysines promotes integration in a ternary complex with UBXN6 and VCP which promotes oligomeric CAV1 targeting to lysosomes for degradation (PubMed:23335559). Ubiquitinated by ZNRF1; leading to degradation and modulation of the TLR4-mediated immune response (PubMed:28593998).

The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated.

Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress.

Belongs to the caveolin family.

Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Expressed in the brain.

• Golgi apparatus membrane
• Peripheral membrane protein
• Cell membrane
• Peripheral membrane protein
• Membrane
• Caveola
• Peripheral membrane protein
• Membrane raft
• Golgi apparatus
• trans-Golgi network
• Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae.

CAV, CAV1, Caveolin-1

• entrezGene:857
• omim:601047
• swissprot:Q03135

Proteins

Research Tools

• Neuroscience

20472Da