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FLASH GENE
Symbol CAV1 contributors: mct/shn - updated : 16-03-2016
HGNC name caveolin 1, caveolae protein, 22kDa
HGNC id 1527
Corresponding disease
BSCL3 Berardinelli-Seip congenital generalized lipodystrophy type
Location 7q31.2      Physical location : 116.164.838 - 116.201.238
Synonym name
  • caveolin 1
  • caveolin-1
  • caveolae protein, 22-kD
  • caveolin-1 beta isoform protein
  • cell growth-inhibiting protein 32
  • Synonym symbol(s) CAV, VIP1, VIP21, MSTP085, CGL3, BSCL3, CGBSCL3, LCCNS, PPH3, VIP21L3,
    DNA
    TYPE functioning gene
    STRUCTURE 36.40 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure relation to methylation of a CpG island in the 5' promoter region
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S2543 - D7S522 - CAV1 - D7S633 - D7S677 - qter
    Physical map
    LRRN3 7q21.12 leucine rich repeat neuronal 3 LOC392092 7 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) DOCK4 7q21.13-q31.1 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) ZNF277 7q31.1 zinc finger protein (C2H2 type) 277 IFRD1 7q31 interferon-related developmental regulator 1 FLJ39575 7q31.1 hypothetical protein FLJ39575 NPM1P14 7q31.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 FLJ13576 7q31.32 hypothetical protein FLJ13576 FLJ31818 7q31.1 hypothetical protein FLJ31818 GPR85 7q31 G protein-coupled receptor 85 LOC389548 7 hypothetical gene supported by BX537645 PPP1R3A 7q11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle) FOXP2 7q31 forkhead box P2 HIC 7q31.1 forkhead box P2 TFEC 7q31.2 transcription factor EC TES 7q31.2 testis derived transcript (3 LIM domains) CAV2 7q31.1-q31.2 caveolin 2 CAV1 7q31.2-q31.3 caveolin 1, caveolae protein, 22kDa MET 7q31.2-q31.3 met proto-oncogene (hepatocyte growth factor receptor) CAPZA2 7q31.2-q31.3 capping protein (actin filament) muscle Z-line, alpha 2 ST7 7q31.1-q31.3 suppression of tumorigenicity 7 WNT2 7q31 wingless-type MMTV integration site family member 2 GASZ 7q31.31 GASZ CFTR 7q31.3 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CORTBP2 7q31.3 cortactin binding protein 2 LSM8 7q31.1-q31.3 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) ANKRD7 7q31 ankyrin repeat domain 7 KCND2 7q31-q32 potassium voltage-gated channel, Shal-related subfamily, member 2 TM4SF12 7 transmembrane 4 superfamily member 12 ING3 7q31 inhibitor of growth family, member 3 FLJ21986 7q31.32 hypothetical protein FLJ21986 WNT16 7q31 wingless-type MMTV integration site family, member 16 FAM3C 7q22.1-q31.1 family with sequence similarity 3, member C HCP19 7q31.32 cytochrome c, somatic pseudogene LOC136143 7q31.32 similar to ribosomal protein L18; 60S ribosomal protein L18 PTPRZ1 7q31.3 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 AASS 7q31.3 aminoadipate-semialdehyde synthase LOC389549 7 similar to zinc finger protein 312; forebrain embryonic zinc finger
    RNA
    TRANSCRIPTS type messenger
    text two isoforms from different initiation sites (at least in mice)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2704 22 178 retina, ciliary muscle, trabecular meshwork, and Schlemm's canal - 21321670
    3 - 3212 - 147 - 2000 10675615
    2 - 2647 - 147 - 2000 10675615
    3 - 2446 - 147 - 2000 10675615
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
     vessel   predominantly
    Digestiveliver    
     stomach    
    Respiratorylung   moderately
    Visualeyeanterior segmentcornea   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposewhite highly Homo sapiens
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     adipocyte
    cell lineage
    cell lines breast carcinoma cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • a hydrophilic cytosolic N terminal membrane attachement domain, required for targeting to lipid raft/caveolae, N-terminal region is the critical ubiquitin conjugation site and, together with previous data, demonstrate the significance of this ubiquitination for binding to the VCP-UBXD1 complex and for sorting into lysosomes
  • a membrane spaning
  • a putative CAV1-binding motif
  • a hydrophilic C terminal region
  • a stretch of eight amino-acids (FED-VIAEP), the caveolin signature
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to CAV1, Pan troglodytes
    ortholog to cav1, Danio rerio
    ortholog to Cav1, Rattus norvegicus
    ortholog to Cav1, Mus musculus
    Homologene
    FAMILY
  • caveolin family
  • CATEGORY chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • cholesterol enriched microdomains (lipid rafts)
  • integral membrane protein of caveolae membranes
  • basic FUNCTION
  • transforming suppressor activity in T cell leukemia, lung and breast carcinomas
  • playing a functional role in a novel post-Golgi trafficking pathway
  • crucial role in the mechanisms that coordinate lipid metabolism with the proliferative response occurring in the liver after cellular injury (
  • implicated in a variety of cellular processes such as endocytosis, phagocytosis, and cholesterol trafficking
  • being essential for liver regeneration
  • regulating the trafficking of SLC1A1 on and off the plasma membrane
  • as an important regulator of downstream signaling and membrane targeting of EPHB1
  • endothelial Cav-1 and caveolae are necessary for both rapid and long-term mechanotransduction in intact blood vessels (
  • important regulator of downstream signaling and membrane targeting of BMPR2 in vascular smooth muscle cells
  • implicated in cell migration but its exact role and mechanism of action in this process remained obscure
  • activating Rab5 and enhancing endocytosis through direct interaction
  • sequester fatty acids on the cytoplasmic leaflet of the plasma membrane, augment triglyceride formation and protect cells from lipotoxicity
  • frequently downregulated in cancer, absence of CAV1 increases proliferation and anchorage-independent growth by a Rac-dependent, Erk-independent mechanism
  • mediates integrin control of several growth-regulatory pathways
  • essential role of caveolin-1 in caveolae formation
  • exerts its protective function in sepsis likely through its roles in modulating inflammatory response, alleviating bacterial burdens, and suppressing thymocyte apoptosis
  • involved in the formation of caveolae which are specialized invaginations of the plasma membrane that are rich in cholesterol and other lipids, and they take part in transcytosis
  • CD109 associates with caveolin-1 (CAV1), a major component of the caveolae
  • plays a major role in oncogenesis through its various functions in lipid transport, membrane trafficking, and signal transduction
  • intestinal CAV1 is important for dietary fatty acid absorption
  • PTRF, a structural protein of caveolae, modulates the oncogenic function of CAV1 and cooperates with CAV1 to enhance pancreatic cancer aggressiveness
  • play a critical role in the formation of AAA (abdominal aortic aneurysm) and associated endoplasmic reticulum/oxidative stress, presumably through the regulation of caveolae compartmentalized signals induced by AGT
  • essential constituent of adipocyte caveolae which binds the beta subunit of the insulin receptor (IR) and is implicated in the regulation of insulin signaling
  • its expression is enhanced by DNA demethylation during adipocyte differentiation
  • in hepatocytes, CAV1 is required for TGFB1-induced anti-apoptotic signal
  • has a complicated but critical role for osteoclastogenesis
  • PTRF is associated with CAV1 at the time of receptivity
  • structurally distinct domains of CAV1 selectively regulate the ability of local calcium to activate distinct transcription factors
  • is a principal scaffolding protein of caveolae, a specialized plasma membrane structure
  • regulatory function of CAV1 in lysosome and autophagy was found to be caveolae-independent, and acts through lipid rafts
  • novel function of CAV1 and lipid rafts in breast cancer development via modulation of lysosomal function and autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling signal transduction
    organizing multiple signaling pathways in the cell
    a component
  • major component of the inner surface of caveolae, small invaginations of the plasma membrane, and critical survival factor of sepsis
  • colocalizing and forming a stable hetero-oligomeric complex with CAV2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • linking integrin subunits to FYN
  • negative regulator of RAS
  • DYSF (functional role for caveolins in a novel post-Golgi trafficking pathway followed by dysferlin)
  • substrate of PTPN1
  • caveolin-2, CAV2
  • amyloid precursor protein, APP
  • G-protein coupled receptor kinase 2, GRK2
  • flotillins 1 and 2 (
  • Phospholipase D2, PLD2
  • protein kinase A, PKA
  • androgen receptor, AR
  • mal, T-cell differentiation protein-like, MALL
  • Bruton's tyrosine kinase, BTK and BMX non-receptor tyrosine kinase, Bmx
  • tumor necrosis factor-alpha receptor-associated factor 2 TRAF2 and C-terminal Src kinase, Csk
  • PTP1B, PTP1C, SHPTP2, PTEN, and LAR
  • serine/threonine protein phosphatases PP1 and PP2A
  • CD147 (
  • integrin linked kinase 1, ILK1
  • SCP2 (bound caveolin-1 through a new domain identified in the N-terminal domain of caveolin-1 between aa 34-40)
  • FLNA, a novel CAV1-dependent target in IGF1-stimulated cancer cell migration
  • CAV1 interacts with TRPC1 and ITPR3 to regulate Ca2+ store release-induced Ca2+ entry in endothelial cells
  • interaction between IFITM1 and CAV1 could enhance the inhibitory effect of CAV1 on ERK activation)
  • CAV1 regulates hyperoxia/ROS-induced apoptosis through interactions with FAS and BID, probably via FAS palmitoylation and CAV1 Y14 phosphorylation, respectively
  • role of PTRF in cellular senescence is dependent on its targeting to caveolae and its interaction with CAV1, which appeared to be regulated by the phosphorylation of PTRF
  • cooperative roles of C-terminal Src kinase (CSK) binding protein (PAG1) and Caveolin-1 (CAV1) in the mechanism of Src family tyrosine kinase (SFK) inhibition by CSK
  • DSG2 associates with CAV1, the major protein of specialized membrane microdomains called caveolae, which functions in both membrane protein turnover and intracellular signaling
  • region of DLC1 required for interaction with CAV1 to the DLC1 is the START domain
  • KRASK-RAS regulates both caveolin-1 expression and other factors affecting caveolin-1 functions in colon cancer-derived cell migration
  • is positively regulated at the transcriptional level through a novel calcium signaling pathway mediated by NFATC1
  • is a novel physiological activator of PPP5C
  • may be a cofactor in the interaction of DERL1 and PTGS2 and may facilitate DERL1- and VCP complex-mediated PTGS2 ubiquitination, retrotranslocation, and degradation
  • plays a critical role for the development of abdominal aortic aneurysm at least in part via its specific alteration of AGT signalling within caveolae
  • CAV1 interacts with ABCG1 and regulates ABCG1-mediated cholesterol efflux
  • regulate ABCA1 and ABCG1-mediated cholesterol efflux probably via interacting with them
  • in hepatocytes, is required for TGFB1-mediated activation of the metalloprotease ADAM17 that is responsible for shedding of EGFR ligands and activation of the EGFR pathway, which counteracts the TGFB1 pro-apoptotic effects
  • regulates P2RX7 signaling in osteoblasts
  • PLAA is located in caveolae, where it interacts with PDIA3 and CAV1 to initiate rapid signaling via CAMK2A, CAMK2B
  • PRKCDBP is targeted to caveolae by PTRF where it interacts with the scaffolding domain of CAV11 and promote caveolae dynamics
  • coupling between ESR1 and lipid raft CAV1 is critical for membrane ER signaling in synaptic plasticity and therefore, increased coupling of CAV1 and ESR1 may elucidate a critical abnormal mechanism of Fragile X syndrome (FRAXA)
  • protein-protein interaction between CAV1 and PTPN11 is dependent on the N-SH2 domain of PTPN11
  • insulin stimulation of its own uptake requires CAV1 phosphorylation and Src-kinase activity
  • PTRF actively cooperating with CAV1 in the morphogenesis of caveolae, and interaction between PTRF and CAV1 underlies the cell growth and migration in myogenic tumors
  • CAV1-positive early endosomes may act as a multifunctional device for TGFB1 signaling and TGFB1 receptor recycling and degradation
  • correlations of MYOCD with CAV1 in a majority of human tissues and in the heart, correlation with MKL2
  • CAV1 is a powerful negative regulator of the excitatory glutamate transporters SLC1A1, SLC1A2, SLC1A3, SLC1A6
  • SEPTIN11 associated with caveolae in mature adipocytes and interacted with both CAV1 and the intracellular fatty acid chaperone, fatty acid binding protein 5 (FABP5)
  • E3 ubiquitin ligase ZNRF1 modulates CAV1 protein stability to regulate Toll-like receptor (TLR) 4-triggered immune responses
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSCL3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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 (