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FLASH GENE

Symbol

CAV1

contributors: mct/shn - updated : 16-03-2018

HGNC name	caveolin 1, caveolae protein, 22kDa
HGNC id	1527

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BSCL3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in T cell leukemia, lung carcinoma and breast carcinoma cell lines tumoral   deletion     or amplified in prostate carcinoma tumoral     --low   in ovarian carcinoma tumoral   amplification     coamplified with MET oncogene in gastric cancer tumoral       loss of function through mutations, in cervical cancer tumoral     --over   correlates with longer survival in malignant melanoma metastases, and high in melanoma cells correlates with longer survival in primary malignant melanoma constitutional       loss of function decreases basolateral K(+) channel activity and depolarizes the cell membrane potential in the distal convoluted tubule (DCT) at least in part by suppressing the stimulatory effect of SRC on KCNJ10 constitutional   deletion     impaired the ability of HSCs to differentiate into mature blood cells constitutional     --low   in patients with Moyamoya disease and markedly decreased in RNF213 variant carriers

Susceptibility

to hypertension and metabolic syndrome to primary open-angle glaucoma subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV1 (

Variant & Polymorphism SNP , other	polymorphisms protecting against hypertension and metabolic syndrome
	rs4236601[A], associated with primary open-angle glaucoma

Candidate gene
Marker
Therapy target	Treatment of cav1-/- mice with glucose drastically increased survival and reestablished progression of the cell cycle (
	treatment of Cav1-/- mice with either MnTMPyP (a superoxide scavenger) or l-NAME (a NOS inhibitor) reversed their pulmonary vascular pathology and Pulmonary hypertension phenotype (

ANIMAL & CELL MODELS

	Caveolin-1 null mice display hyperproliferative and vascular abnormalities (
	mice disrupted for Cav1 display vascular dysfunction and pulmonary defects (
	Cav-1(-/-) mice displayed a decreased percentage of B cells and an increased percentage of M cells in the bone marrow and peripheral blood, and these changes were due to an increased number of HSCs
	mice deficient in the Cav1 gene have no caveolae structures in several nonmuscle cell types, a dilated cardiomyopathy in the left ventricular chamber including an enlarged ventricular chamber diameter and a ventricular hypertrophy (
	genetic depletion of caveolin-1 in fibroblasts abolished the antiproliferative effect of carbon monoxide (
	caveolin-1 gene-disrupted mice display impaired liver regeneration and low survival after a partial hepatectomy (