Recombinant Human Caveolin-1 (CAV1) 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) 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)

Subcellular Location

Golgi apparatus membrane (Peripheral membrane protein); Cell membrane (Peripheral membrane protein); Membrane, caveola (Peripheral membrane protein); Membrane raft; Golgi apparatus, trans-Golgi network; Cytoplasm

Disease Association

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

Tissue Specificity

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

Subunit

(Microbial infection) Interacts with human respiratory syncytial virus (HRSV) matrix protein; this interaction probably facilitates viral budding

• Glenney J.R. Jr. et al. The sequence of human caveolin reveals identity with VIP21, a component of transport vesicles. — FEBS Lett. (1992)
• Hurlstone A.F. et al. Analysis of the CAVEOLIN-1 gene at human chromosome 7q31.1 in primary tumours and tumour-derived cell lines. — Oncogene (1999)
• Engelman J.A. et al. Sequence and detailed organization of the human caveolin-1 and -2 genes located near the D7S522 locus (7q31.1). Methylation of a CpG island in the 5' promoter region of the caveolin-1 gene in human breast cancer cell lines. — FEBS Lett. (1999)
• Kalnine N. et al. Cloning of human full-length CDSs in BD Creator(TM) system donor vector. (MAY-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Vainonen J.P. et al. N-terminal processing and modifications of caveolin-1 in caveolae from human adipocytes. — Biochem. Biophys. Res. Commun. (2004)
• Aboulaich N. et al. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. — Biochem. J. (2004)
• Karpen H.E. et al. The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane. — J. Biol. Chem. (2001)