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FLASH GENE
Symbol CAV3 contributors: mct/npt - updated : 17-03-2017
HGNC name caveolin 3
HGNC id 1529
Corresponding disease
LGMD1C limb-girdle muscular dystrophy 1C
LQT9 long QT syndrome 9
RMD2 rippling muscle disease 2
Location 3p25.3      Physical location : 8.775.485 - 8.788.450
Synonym name M-caveolin
Synonym symbol(s) VIP21, MGC126100, MGC126101, MGC126129, VIP-21
DNA
TYPE functioning gene
STRUCTURE 12.96 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC389092 3 LOC389092 LMCD1 3p26-p24 LIM and cysteine-rich domains 1 LOH3CR2A 3 loss of heterozygosity, 3, chromosomal region 2, gene A LOC51066 3p25.3 fls485 LOC391507 3 similar to seven transmembrane helix receptor CAV3 3p25 caveolin 3 OXTR 3p25 oxytocin receptor RAD18 3p25-p24 RAD18 homolog (S. cerevisiae) SRGAP2 3p25.3 SLIT-ROBO Rho GTPase activating protein 2 LOC391508 3 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) DKFZP434F091 3p25.3 DKFZP434F091 protein FLJ10707 3p25.3 hypothetical protein FLJ10707 LOC375323 3p25.3 lipoma HMGIC fusion partner-like protein 4 FLJ22405 3p26 hypothetical protein FLJ22405 LOC151835 3p25.3 copine family member BRPF1 3p26-p25 bromodomain and PHD finger containing, 1 OGG1 3p26.2 8-oxoguanine DNA glycosylase CAMK1 3p25.2 calcium/calmodulin-dependent protein kinase I TADA3L 3p25.3 transcriptional adaptor 3 (NGG1 homolog, yeast)-like ARPC4 3p25.3-p24.1 actin related protein 2/3 complex, subunit 4, 20kDa LOC389093 3 similar to RIKEN cDNA 4833441J24 DKFZP434B103 MGC29784 3p25.3 hypothetical protein MGC29784 CIDE-3 3p25.3 cell death activator CIDE-3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 1329 23 151 - 1996 8567687
2 splicing 1425 17.3 151 - 1996 8567687
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheartatrium    Homo sapiensAdult
 heartventricle    Homo sapiensAdult
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiacmyocardium  Homo sapiens
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal (AA 153), containing a signature sequence (AA 4148, FEDVIAEP) that is present in all caveolins (Gazzerro 2010)
  • a WW-like domain
  • a scaffolding (AA 5473),
  • a transmembrane (AA 74106), which forms a hairpin loop in the sarcolemma, allowing both the N- and C-terminal ends to face the cytoplasm (Gazzerro 2010)
  • C-terminal (AA 107151)
  • conjugated Other
    mono polymer homomer
    HOMOLOGY
    interspecies ortholog to murine Cav3
    Homologene
    FAMILY
  • caveolin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • colocalizing with dystrophin in the sarcolemma
  • expressed at the neuromuscular junction, and associates with the nicotinic acetylcholine receptor CHRNA4 (Hezel 2010)
  • CAV3 is localized predominantly in the caveolae, small invaginations of the plasma membrane
  • basic FUNCTION
  • playing a putative role in the formation of caveolae membranes
  • caveolin-3 inhibits growth signal in cardiac myoblasts in a Ca2+-dependent manner
  • has a role in the regulation of energy metabolism of muscle cells (Gazzerro 2010)
  • structural protein component of caveolae in muscle cells (Hezel 2010)
  • critical component of the signaling machinery that drives nicotinic acetylcholine receptor clustering and controls neuromuscular junction function (Hezel 2010)
  • sequester fatty acids on the cytoplasmic leaflet of the plasma membrane, augment triglyceride formation and protect cells from lipotoxicity (Simard 2009)
  • negatively regulates KCNJ11/SUR2A channel function (Garg 2009)
  • role for caveolin-3 in dihydropyridine receptor (QDPR) functional regulation and/or T-tubular membrane localization
  • CAV3 expression and its association with ionic channels likely represent a crucial step of cardiac maturation
  • in the heart CAV3 is the main component of caveolae, plasma membrane domains that regulate multiple cellular processes highly relevant for cardiac excitability, such as trafficking, calcium homeostasis, signal transduction and cellular response to injury
  • CAV3 protein can modify integrin function and mechanotransduction in the cardiac myocytes (CM) and intact heart
  • CAV3 may be a novel participant in B-cell expression, T-cell cytokine production and activation of inflammation
  • pathological cardiac hypertrophy is characterized by subcellular remodeling of the ventricular myocyte with a reduction in the scaffolding protein CAV3
  • stable CAV3 expression is essential for protecting the signaling mechanisms in pharmacologically and pressure overload-induced cardiac hypertrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscle development
    PATHWAY
    metabolism
    signaling
    a component
  • component of dystrophin complex
  • CAV3, NEDD4L, and KCNH2 likely form a complex in the plasma membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DYSF (functional role for caveolins in a novel post-Golgi trafficking pathway followed by dysferlin)
  • interaction between VDR and CAV3 (providing that VDR plays a role in regulation of heart structure and function) (Zhao (2010)
  • neuronal nitric oxide synthase (NOS1) in skeletal muscle fibers, maintaining the enzyme in an inactive conformation
  • dystrophin-glycoprotein complex
  • beta dystroglycan to regulate the recruitment of dystrophin to the sarcolemma
  • direct molecular interaction between CAV3 and QDPR which is likely to underlie their functional link and whose loss might therefore be involved in pathophysiological mechanisms associated to muscle caveolinopathies
  • CAV3 enhances ubiquitin ligase NEDD4L interaction with mature KCNH2 channels in the plasma membrane, leading to decreased channel expression
  • building block of caveolae as well as a regulator of a number of physiological processes by facilitating the formation of multiprotein signaling complexes
  • developmental change in HCN4-CAV3 association in human embryonic stem cell-derived cardiomyocytes (hESC-CM)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD1C , RMD2 , LQT9
    related resource Limb-Girdle Muscular dystrophy type 1C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    with presenilin in astrocytes of Alzheimer disease and leading to alteration of APP processing
    constitutional     --over  
    in skeletal muscle fibers inducing a muscular dystrophy Duchenne-like
    constitutional     --over  
    in idiopathic hyper-CK-emia
    constitutional       loss of function
    palmitate-induced loss of CAV3 results in cardiac contractile dysfunction via a defect in calcium-induced calcium release
    Susceptibility
  • to cardiac death
  • Variant & Polymorphism other
  • CAV3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • caveolin-3 null mice show abnormal neuromuscular junction activity that is consistent with altered CHRNA4 localization at the sarcolemma (Hezel 2010)
  • caveolin-3 knockout (Cav-3KO) mice exhibited modestly increased myocardial ischemia/reperfusion injury (increased infarct size, apoptosis, and poorer cardiac function recovery