CAV1

GeneName

CAV1

Summary

CAV1, also known as Caveolin-1 or Cav, is a 20 kDa integral membrane protein that is primarily expressed in adipocytes, endothelial cells, and fibroblasts. It is a key component of caveolae, small invaginations of the plasma membrane that play important roles in cellular signalling and endocytosis. CAV1 functions as a molecular scaffold, facilitating the assembly of signalling complexes and regulating various pathways, including cholesterol homeostasis, nitric oxide signalling, and angiogenesis. It is involved in the transport and internalization of various receptors and is critical for the maintenance of cellular architecture and lipid metabolism.

Importance

CAV1 is relevant to: - The regulation of endothelial cell function and vascular homeostasis, influencing angiogenesis and vasculogenesis. - Cholesterol transport and metabolism, impacting conditions such as atherosclerosis and metabolic syndrome. - Cancer biology, as it is implicated in tumour progression and metastasis through its role in cell signalling and migration. - Neurodegenerative diseases, where its dysfunction may contribute to altered nitric oxide signalling and cellular stress responses.

Top Products

For researchers investigating CAV1, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-Caveolin-1 antibody - Caveolae Marker (ab2910), which has garnered 222 citations, reflecting its reliability in the field. This antibody is particularly effective for Western blotting (WB), immunocytochemistry (ICC), and immunoprecipitation (IP). In addition, we offer the recombinant monoclonal antibody, Anti-Caveolin-1 antibody [E249] - Caveolae Marker (ab32577). This product has been validated in knockout models and is suitable for a broader range of applications, including Western blotting (WB), immunohistochemistry (IHC), immunocytochemistry (ICC), and flow cytometry (FC). With 36 citations, it is gaining traction among researchers seeking the consistency and reliability that recombinant antibodies provide. The Anti-Caveolin-1 antibody [EPR15554] - N-terminal - Caveolae Marker ELISA Kit (ab192869) is a reliable option for researchers looking to accurately measure CAV1, supported by 15 citations in the literature.

Abcam Product Citation Summary

The data indicates a significant focus on the role of CAV1 in various biological contexts, particularly in mouse models and human cell lines. Studies often explore its involvement in processes such as epithelial-mesenchymal transition, insulin signaling, and diabetes-related alterations. The use of multiple applications, including Western blotting and immunohistochemistry, highlights the importance of CAV1 in cellular mechanisms and disease states.

Abcam Product Citation Table

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).

Involvement in disease

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.

Post-translational modifications

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.

Sequence Similarities

Belongs to the caveolin family.

Tissue Specificity

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

Cellular localization

• Golgi apparatus membrane
• Peripheral membrane protein
• Cell membrane
• Peripheral membrane protein
• Membrane
• Caveola
• Peripheral membrane protein
• Membrane raft
• Golgi apparatus
• trans-Golgi network
• Cytoplasm
• Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae. In the presence of DSG2 localizes to the cytoplasm away from cell borders (PubMed:26918609).

Alternative names

CAV, CAV1, Caveolin-1

Database links

swissprot:Q03135 entrezGene:857 omim:601047

Other research areas

• Neuroscience