Homo sapiens Protein: CAV1
Summary
InnateDB Protein IDBP-243552.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CAV1
Protein Name caveolin 1, caveolae protein, 22kDa
Synonyms BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21;
Species Homo sapiens
Ensembl Protein ENSP00000377110
InnateDB Gene IDBG-37314 (CAV1)
Protein Structure
UniProt Annotation
Function May act as a scaffolding protein within caveolar membranes. 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. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. {ECO:0000250, ECO:0000269PubMed:11751885, ECO:0000269PubMed:17287217}.
Subcellular Localization Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. Potential hairpin- like structure in the membrane. Membrane protein of caveolae.
Disease Associations Congenital generalized lipodystrophy 3 (CGL3) [MIM:612526]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269PubMed:18211975}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:22474227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in muscle and lung, less so in liver, brain and kidney.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 213 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 213 [view]
Protein-Protein 208 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 1 [view]
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005113 patched binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0015485 cholesterol binding
GO:0016504 peptidase activator activity
GO:0019899 enzyme binding
GO:0032947 protein complex scaffold
GO:0050998 nitric-oxide synthase binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000188 inactivation of MAPK activity
GO:0001570 vasculogenesis
GO:0001666 response to hypoxia
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006641 triglyceride metabolic process
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006940 regulation of smooth muscle contraction
GO:0007519 skeletal muscle tissue development
GO:0007596 blood coagulation
GO:0008104 protein localization
GO:0009267 cellular response to starvation
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0016032 viral process
GO:0016050 vesicle organization
GO:0019217 regulation of fatty acid metabolic process
GO:0019915 lipid storage
GO:0030193 regulation of blood coagulation
GO:0030301 cholesterol transport
GO:0030514 negative regulation of BMP signaling pathway
GO:0030857 negative regulation of epithelial cell differentiation
GO:0030879 mammary gland development
GO:0031295 T cell costimulation
GO:0031397 negative regulation of protein ubiquitination
GO:0032091 negative regulation of protein binding
GO:0032507 maintenance of protein location in cell
GO:0032570 response to progesterone
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0033484 nitric oxide homeostasis
GO:0042632 cholesterol homeostasis
GO:0043409 negative regulation of MAPK cascade
GO:0043627 response to estrogen
GO:0044281 small molecule metabolic process
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0045087 innate immune response (InnateDB)
GO:0045907 positive regulation of vasoconstriction
GO:0046209 nitric oxide metabolic process
GO:0046426 negative regulation of JAK-STAT cascade
GO:0048550 negative regulation of pinocytosis
GO:0048554 positive regulation of metalloenzyme activity
GO:0050900 leukocyte migration
GO:0050999 regulation of nitric-oxide synthase activity
GO:0051260 protein homooligomerization
GO:0051480 cytosolic calcium ion homeostasis
GO:0051592 response to calcium ion
GO:0051899 membrane depolarization
GO:0052547 regulation of peptidase activity
GO:0055074 calcium ion homeostasis
GO:0060056 mammary gland involution
GO:0070836 caveola assembly
GO:0071455 cellular response to hyperoxia
GO:0072584 caveolin-mediated endocytosis
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0097190 apoptotic signaling pathway
GO:2000286 receptor internalization involved in canonical Wnt receptor signaling pathway
GO:2000811 negative regulation of anoikis
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005811 lipid particle
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030666 endocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR001612 Caveolin
PFAM PF01146
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q03135
PhosphoSite PhosphoSite-Q03135
TrEMBL C9JKI3
UniProt Splice Variant
Entrez Gene 857
UniGene Hs.74034
RefSeq NP_001166368
HUGO HGNC:1527
OMIM 601047
CCDS CCDS55156
HPRD 03028
IMGT
EMBL AC006159 AF095591 AF095592 AF095593 AF125348 AJ133269 BC009685 BC082246 BT007143 CH471070 Z18951
GenPept AAD23745 AAD34722 AAH09685 AAH82246 AAP35807 CAA79476 CAB63654 EAW83503 EAW83505