CAV1
entrez
857
canonical
uniprot
Q03135
canonical
ensembl
ENSG00000105974
resolver
ensp
ENSP00000339191
resolver
ensp
ENSP00000377110
resolver
ensp
ENSP00000377111
resolver
ensp
ENSP00000384348
resolver
genesymbol
CAV1
resolver
genesymbol_syn
CAV
resolver
hgnc
HGNC:1527
resolver
uniprot
A9XTE5
resolver
uniprot
Q2TNI1
resolver
uniprot
Q59E85
resolver
uniprot
Q7Z4F3
resolver
uniprot
Q9UGP1
resolver
uniprot
Q9UNG1
resolver
uniprot
Q9UQH6
resolver
uniprot_entry
A9XTE5_HUMAN
resolver
uniprot_entry
CAV1_HUMAN
resolver
uniprot_entry
Q2TNI1_HUMAN
resolver
uniprot_entry
Q59E85_HUMAN
resolver
uniprot_entry
Q7Z4F3_HUMAN
resolver
uniprot_sec
Q9UGP1
resolver
uniprot_sec
Q9UNG1
resolver
uniprot_sec
Q9UQH6
resolver
amino_acid_sequence
MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI
uniprot
proteins
disease_involvement
DISEASE: Lipodystrophy, congenital generalized, 3 (CGL3) [MIM:612526]: 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. {ECO:0000269|PubMed:18211975}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary hypertension, primary, 3 (PPH3) [MIM:615343]: 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. {ECO:0000269|PubMed:22474227}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Lipodystrophy, familial partial, 7 (FPLD7) [MIM:606721]: 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. {ECO:0000269|PubMed:18237401}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P49817, ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}.
uniprot
proteins
mass_dalton
20472
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="K->R: Resistance to ZNRF1-mediated degradation."; /evidence="ECO:0000269|PubMed:28593998
uniprot
proteins
post_translational_modification
PTM: 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). {ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:23335559, ECO:0000269|PubMed:28593998}.; PTM: The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated. {ECO:0000269|PubMed:15219854}.; PTM: Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress. {ECO:0000269|PubMed:12531427, ECO:0000269|PubMed:15219854, ECO:0000269|PubMed:8632005}.
uniprot
proteins
protein_family
Caveolin family
uniprot
proteins
pubmed
10086342
uniprot
proteins
pubmed
10218480
uniprot
proteins
pubmed
11278759
uniprot
proteins
pubmed
11751885
uniprot
proteins
pubmed
11865038
uniprot
proteins
pubmed
12368209
uniprot
proteins
pubmed
12531427
uniprot
proteins
pubmed
1360410
uniprot
proteins
pubmed
15219854
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16501093
uniprot
proteins
pubmed
16807357
uniprot
proteins
pubmed
17287217
uniprot
proteins
pubmed
18211975
uniprot
proteins
pubmed
18237401
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19262564
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20345844
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21822278
uniprot
proteins
pubmed
22474227
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23335559
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24576892
uniprot
proteins
pubmed
25556234
uniprot
proteins
pubmed
25588833
uniprot
proteins
pubmed
25893292
uniprot
proteins
pubmed
26918609
uniprot
proteins
pubmed
28593998
uniprot
proteins
pubmed
8632005
uniprot
proteins
sequence_length
178
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Cell membrane {ECO:0000269|PubMed:11278759, ECO:0000269|PubMed:26918609}; Peripheral membrane protein. Membrane, caveola {ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25588833}; Peripheral membrane protein. Membrane raft {ECO:0000269|PubMed:25893292}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:P33724}. Cytoplasm {ECO:0000269|PubMed:26918609}. Note=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). {ECO:0000269|PubMed:26918609}.
uniprot
proteins