TAG for CAV1

Gene content

Symbol

CAV1 (-- by HUGO)

Name

caveolin 1, caveolae protein, 22kDa (Previous names: caveolin 1, caveolae protein, 22kD ) CAV1: Appr

Category

-- & Tumor suppressor gene

Alias

caveolin
caveolae
22kDa
MSTP085
CAV
VIP21
BSCL3
caveolin-1
CGL3
cell
growth-inhibiting
protein
32
caveolin
caveolae

Cytogenetic band

NCBI: 7q31.1 Ensembl: 7q31.2

Protein information

CAV1_HUMAN

Size: 178 amino acids

Mass: 20472 Da

Subcellular location: 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 membran

Subunit: Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and syntaxin. Interacts with rotavirus A NSP4. Interacts (via the N-terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP (By similarity). Interacts with BMX and BTK

Tissue specificity: Expressed in muscle and lung, less so in liver, brain and kidney

Similarity:

Belongs to the caveolin family

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001612	Caveolin	Caveolin	Family

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	caveolar membrane	IDA	GOA	PubMed
	caveolar membrane	IEA	GOA
	cholesterol homeostasis	TAS	GOA	PubMed
	integral to membrane	IEA	GOA
	membrane	IEA	GOA
	protein binding	IPI	GOA	PubMed
	structural molecule activity	IDA	GOA	PubMed
Cellular Component	Golgi membrane	IDA	GOA	PubMed
Cellular Component	lipid raft	IDA	GOA	PubMed
Molecular Function	cholesterol binding	TAS	GOA	PubMed
	cholesterol transport	TAS	GOA	PubMed
	endoplasmic reticulum	IDA	GOA	PubMed
	integral to plasma membrane	TAS	GOA	PubMed

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

CAV1 cross reference