Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P56539

- CAV3_HUMAN

UniProt

P56539 - CAV3_HUMAN

Protein

Caveolin-3

Gene

CAV3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.

    GO - Molecular functioni

    1. calcium channel regulator activity Source: BHF-UCL
    2. connexin binding Source: BHF-UCL
    3. ion channel binding Source: BHF-UCL
    4. potassium channel inhibitor activity Source: BHF-UCL
    5. protein binding Source: UniProtKB
    6. protein complex binding Source: UniProtKB
    7. protein complex scaffold Source: BHF-UCL
    8. protein C-terminus binding Source: UniProtKB
    9. sodium channel regulator activity Source: BHF-UCL

    GO - Biological processi

    1. actin filament organization Source: Ensembl
    2. cardiac muscle cell development Source: Ensembl
    3. caveola assembly Source: MGI
    4. cell differentiation Source: BHF-UCL
    5. cell growth Source: BHF-UCL
    6. cholesterol homeostasis Source: BHF-UCL
    7. cytoplasmic microtubule organization Source: Ensembl
    8. endocytosis Source: BHF-UCL
    9. establishment of protein localization to plasma membrane Source: Ensembl
    10. glucose homeostasis Source: BHF-UCL
    11. heart trabecula formation Source: Ensembl
    12. membrane raft organization Source: BHF-UCL
    13. muscle cell cellular homeostasis Source: BHF-UCL
    14. muscle organ development Source: UniProtKB
    15. myoblast fusion Source: Ensembl
    16. negative regulation of calcium ion transport Source: MGI
    17. negative regulation of cardiac muscle hypertrophy Source: BHF-UCL
    18. negative regulation of cell growth involved in cardiac muscle cell development Source: Ensembl
    19. negative regulation of cell size Source: BHF-UCL
    20. negative regulation of MAPK cascade Source: BHF-UCL
    21. negative regulation of MAP kinase activity Source: BHF-UCL
    22. negative regulation of nitric-oxide synthase activity Source: BHF-UCL
    23. negative regulation of potassium ion transmembrane transport Source: BHF-UCL
    24. negative regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
    25. negative regulation of protein kinase activity Source: BHF-UCL
    26. negative regulation of protein localization to cell surface Source: BHF-UCL
    27. negative regulation of sarcomere organization Source: BHF-UCL
    28. nucleus localization Source: Ensembl
    29. plasma membrane organization Source: BHF-UCL
    30. plasma membrane repair Source: Ensembl
    31. positive regulation of caveolin-mediated endocytosis Source: Ensembl
    32. positive regulation of cell proliferation Source: Ensembl
    33. positive regulation of cytosolic calcium ion concentration Source: BHF-UCL
    34. positive regulation of microtubule polymerization Source: BHF-UCL
    35. positive regulation of myotube differentiation Source: Ensembl
    36. positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: BHF-UCL
    37. protein localization Source: BHF-UCL
    38. protein localization to plasma membrane Source: BHF-UCL
    39. regulation of branching involved in mammary gland duct morphogenesis Source: Ensembl
    40. regulation of calcium ion import Source: BHF-UCL
    41. regulation of calcium ion transmembrane transporter activity Source: BHF-UCL
    42. regulation of cardiac muscle contraction Source: BHF-UCL
    43. regulation of heart contraction Source: BHF-UCL
    44. regulation of heart rate Source: BHF-UCL
    45. regulation of membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
    46. regulation of membrane potential Source: BHF-UCL
    47. regulation of nerve growth factor receptor activity Source: MGI
    48. regulation of p38MAPK cascade Source: Ensembl
    49. regulation of protein kinase B signaling Source: Ensembl
    50. regulation of signal transduction by receptor internalization Source: MGI
    51. regulation of skeletal muscle contraction Source: BHF-UCL
    52. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
    53. regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
    54. regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
    55. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
    56. triglyceride metabolic process Source: BHF-UCL
    57. T-tubule organization Source: BHF-UCL
    58. ventricular cardiac muscle cell action potential Source: BHF-UCL

    Enzyme and pathway databases

    SignaLinkiP56539.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Caveolin-3
    Alternative name(s):
    M-caveolin
    Gene namesi
    Name:CAV3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:1529. CAV3.

    Subcellular locationi

    Golgi apparatus membrane By similarity; Peripheral membrane protein By similarity. Cell membrane By similarity; Peripheral membrane protein By similarity. Membranecaveola By similarity; Peripheral membrane protein By similarity
    Note: Potential hairpin-like structure in the membrane. Membrane protein of caveolae By similarity.By similarity

    GO - Cellular componenti

    1. caveola Source: UniProtKB-SubCell
    2. cell surface Source: Ensembl
    3. dystrophin-associated glycoprotein complex Source: UniProtKB
    4. endoplasmic reticulum Source: MGI
    5. Golgi membrane Source: UniProtKB-SubCell
    6. membrane raft Source: BHF-UCL
    7. neuromuscular junction Source: BHF-UCL
    8. plasma membrane Source: BHF-UCL
    9. sarcolemma Source: BHF-UCL
    10. T-tubule Source: BHF-UCL
    11. vesicle Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]: A degenerative myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. Inheritance can be autosomal dominant or recessive.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271R → Q in HYPCK, RMD, LGMD1C and MPDT. 6 Publications
    VAR_011512
    Natural varianti28 – 281D → E in RMD and LGMD1C. 1 Publication
    VAR_015374
    Natural varianti33 – 331N → K in LGMD1C and MPDT. 2 Publications
    Corresponds to variant rs1008642 [ dbSNP | Ensembl ].
    VAR_021016
    Natural varianti44 – 441V → E in LGMD1C. 1 Publication
    VAR_021017
    Natural varianti46 – 461A → T in LGMD1C and RMD; decreased surface expression of the CAV3 protein. 3 Publications
    VAR_011513
    Natural varianti64 – 663Missing in LGMD1C.
    VAR_001402
    Natural varianti64 – 641T → P in LGMD1C. 1 Publication
    VAR_021018
    Natural varianti105 – 1051P → L in LGMD1C and RMD. 2 Publications
    VAR_001403
    HyperCKmia (HYPCK) [MIM:123320]: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271R → Q in HYPCK, RMD, LGMD1C and MPDT. 6 Publications
    VAR_011512
    Natural varianti29 – 291P → L in HYPCK. 1 Publication
    VAR_029540
    Natural varianti57 – 571V → M in HYPCK. 1 Publication
    VAR_010742
    Natural varianti97 – 971Missing in HYPCK. 1 Publication
    VAR_029544
    Rippling muscle disease (RMD) [MIM:606072]: Rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271R → Q in HYPCK, RMD, LGMD1C and MPDT. 6 Publications
    VAR_011512
    Natural varianti28 – 281D → E in RMD and LGMD1C. 1 Publication
    VAR_015374
    Natural varianti46 – 461A → T in LGMD1C and RMD; decreased surface expression of the CAV3 protein. 3 Publications
    VAR_011513
    Natural varianti46 – 461A → V in RMD. 1 Publication
    VAR_011514
    Natural varianti53 – 531S → G in RMD. 1 Publication
    VAR_029541
    Natural varianti87 – 871L → P in RMD. 1 Publication
    Corresponds to variant rs28936685 [ dbSNP | Ensembl ].
    VAR_016207
    Natural varianti93 – 931A → T in RMD. 2 Publications
    Corresponds to variant rs28936686 [ dbSNP | Ensembl ].
    VAR_016208
    Natural varianti105 – 1051P → L in LGMD1C and RMD. 2 Publications
    VAR_001403
    Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641T → S in CMH. 1 Publication
    VAR_029543
    Long QT syndrome 9 (LQT9) [MIM:611818]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781T → M in LQT9 and SIDS. 2 Publications
    Corresponds to variant rs72546668 [ dbSNP | Ensembl ].
    VAR_043695
    Natural varianti79 – 791L → R in LQT9 and SIDS. 1 Publication
    VAR_043696
    Natural varianti85 – 851A → T in LQT9. 1 Publication
    VAR_043697
    Natural varianti97 – 971F → C in LQT9; increase in late sodium current. 1 Publication
    VAR_043698
    Natural varianti141 – 1411S → R in LQT9; increase in late sodium current. 1 Publication
    VAR_043699
    Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141V → L in SIDS. 1 Publication
    Corresponds to variant rs121909281 [ dbSNP | Ensembl ].
    VAR_043694
    Natural varianti78 – 781T → M in LQT9 and SIDS. 2 Publications
    Corresponds to variant rs72546668 [ dbSNP | Ensembl ].
    VAR_043695
    Natural varianti79 – 791L → R in LQT9 and SIDS. 1 Publication
    VAR_043696
    Myopathy, distal, Tateyama type (MPDT) [MIM:614321]: A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271R → Q in HYPCK, RMD, LGMD1C and MPDT. 6 Publications
    VAR_011512
    Natural varianti33 – 331N → K in LGMD1C and MPDT. 2 Publications
    Corresponds to variant rs1008642 [ dbSNP | Ensembl ].
    VAR_021016

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy, Long QT syndrome

    Organism-specific databases

    MIMi123320. phenotype.
    192600. phenotype.
    272120. phenotype.
    606072. phenotype.
    607801. phenotype.
    611818. phenotype.
    614321. phenotype.
    Orphaneti265. Autosomal dominant limb-girdle muscular dystrophy type 1C.
    155. Familial isolated hypertrophic cardiomyopathy.
    97238. Rippling muscle disease.
    101016. Romano-Ward syndrome.
    PharmGKBiPA26109.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 151151Caveolin-3PRO_0000144140Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki38 – 38Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)

    Post-translational modificationi

    Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2.1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    PaxDbiP56539.
    PRIDEiP56539.

    PTM databases

    PhosphoSiteiP56539.

    Expressioni

    Tissue specificityi

    Expressed predominantly in muscle.1 Publication

    Gene expression databases

    BgeeiP56539.
    CleanExiHS_CAV3.
    GenevestigatoriP56539.

    Organism-specific databases

    HPAiCAB017518.
    CAB018557.

    Interactioni

    Subunit structurei

    Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex By similarity. Interacts with TRIM72 By similarity. Interacts with MUSK; may regulate MUSK signaling By similarity. Interacts with DAG1 (via its C-terminal); the interaction prevents binding of DAG1 with DMD. Interacts with DYSF.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi107307. 17 interactions.
    IntActiP56539. 3 interactions.
    MINTiMINT-3021471.
    STRINGi9606.ENSP00000341940.

    Structurei

    3D structure databases

    ProteinModelPortaliP56539.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8383CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini105 – 15147CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei84 – 10421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni64 – 11451Required for interaction with DAG1Add
    BLAST

    Sequence similaritiesi

    Belongs to the caveolin family.Curated

    Phylogenomic databases

    eggNOGiNOG86001.
    HOGENOMiHOG000036550.
    HOVERGENiHBG003422.
    InParanoidiP56539.
    KOiK12959.
    OMAiKVMLRKE.
    OrthoDBiEOG7V1FSD.
    PhylomeDBiP56539.
    TreeFamiTF315736.

    Family and domain databases

    InterProiIPR001612. Caveolin.
    IPR018361. Caveolin_CS.
    [Graphical view]
    PANTHERiPTHR10844. PTHR10844. 1 hit.
    PfamiPF01146. Caveolin. 1 hit.
    [Graphical view]
    PROSITEiPS01210. CAVEOLIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P56539-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMAEEHTDLE AQIVKDIHCK EIDLVNRDPK NINEDIVKVD FEDVIAEPVG    50
    TYSFDGVWKV SYTTFTVSKY WCYRLLSTLL GVPLALLWGF LFACISFCHI 100
    WAVVPCIKSY LIEIQCISHI YSLCIRTFCN PLFAALGQVC SSIKVVLRKE 150
    V 151
    Length:151
    Mass (Da):17,259
    Last modified:July 15, 1998 - v1
    Checksum:iC695E14F5B8F4753
    GO

    Sequence cautioni

    The sequence AAC14931.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAF84581.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141V → L in SIDS. 1 Publication
    Corresponds to variant rs121909281 [ dbSNP | Ensembl ].
    VAR_043694
    Natural varianti27 – 271R → Q in HYPCK, RMD, LGMD1C and MPDT. 6 Publications
    VAR_011512
    Natural varianti28 – 281D → E in RMD and LGMD1C. 1 Publication
    VAR_015374
    Natural varianti29 – 291P → L in HYPCK. 1 Publication
    VAR_029540
    Natural varianti33 – 331N → K in LGMD1C and MPDT. 2 Publications
    Corresponds to variant rs1008642 [ dbSNP | Ensembl ].
    VAR_021016
    Natural varianti44 – 441V → E in LGMD1C. 1 Publication
    VAR_021017
    Natural varianti46 – 461A → T in LGMD1C and RMD; decreased surface expression of the CAV3 protein. 3 Publications
    VAR_011513
    Natural varianti46 – 461A → V in RMD. 1 Publication
    VAR_011514
    Natural varianti53 – 531S → G in RMD. 1 Publication
    VAR_029541
    Natural varianti56 – 561G → S.3 Publications
    Corresponds to variant rs72546667 [ dbSNP | Ensembl ].
    VAR_029542
    Natural varianti57 – 571V → M in HYPCK. 1 Publication
    VAR_010742
    Natural varianti61 – 611S → R in a patient with mild proximal myopathy. 1 Publication
    VAR_026696
    Natural varianti64 – 663Missing in LGMD1C.
    VAR_001402
    Natural varianti64 – 641T → P in LGMD1C. 1 Publication
    VAR_021018
    Natural varianti64 – 641T → S in CMH. 1 Publication
    VAR_029543
    Natural varianti72 – 721C → W.3 Publications
    Corresponds to variant rs116840776 [ dbSNP | Ensembl ].
    VAR_010743
    Natural varianti78 – 781T → M in LQT9 and SIDS. 2 Publications
    Corresponds to variant rs72546668 [ dbSNP | Ensembl ].
    VAR_043695
    Natural varianti79 – 791L → R in LQT9 and SIDS. 1 Publication
    VAR_043696
    Natural varianti85 – 851A → T in LQT9. 1 Publication
    VAR_043697
    Natural varianti87 – 871L → P in RMD. 1 Publication
    Corresponds to variant rs28936685 [ dbSNP | Ensembl ].
    VAR_016207
    Natural varianti93 – 931A → T in RMD. 2 Publications
    Corresponds to variant rs28936686 [ dbSNP | Ensembl ].
    VAR_016208
    Natural varianti97 – 971F → C in LQT9; increase in late sodium current. 1 Publication
    VAR_043698
    Natural varianti97 – 971Missing in HYPCK. 1 Publication
    VAR_029544
    Natural varianti105 – 1051P → L in LGMD1C and RMD. 2 Publications
    VAR_001403
    Natural varianti126 – 1261R → H.1 Publication
    VAR_029545
    Natural varianti141 – 1411S → R in LQT9; increase in late sodium current. 1 Publication
    VAR_043699

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF043101 mRNA. Translation: AAC14931.1. Different initiation.
    Y14747 mRNA. Translation: CAA75042.1.
    AF036367, AF036366 Genomic DNA. Translation: AAC39758.1.
    AF036365 mRNA. Translation: AAC39756.1.
    AK291892 mRNA. Translation: BAF84581.1. Different initiation.
    AC068312 Genomic DNA. No translation available.
    BC069368 mRNA. Translation: AAH69368.1.
    BC102033 mRNA. Translation: AAI02034.1.
    BC102036 mRNA. Translation: AAI02037.1.
    BC102037 mRNA. Translation: AAI02038.1.
    CCDSiCCDS2569.1.
    RefSeqiNP_001225.1. NM_001234.4.
    NP_203123.1. NM_033337.2.
    UniGeneiHs.98303.

    Genome annotation databases

    EnsembliENST00000343849; ENSP00000341940; ENSG00000182533.
    ENST00000397368; ENSP00000380525; ENSG00000182533.
    GeneIDi859.
    KEGGihsa:859.
    UCSCiuc003bra.3. human.

    Polymorphism databases

    DMDMi3182930.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    CAV3/LGMD1C

    Caveolin-3/LGMD-1C page

    Wikipedia

    Caveolin entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF043101 mRNA. Translation: AAC14931.1 . Different initiation.
    Y14747 mRNA. Translation: CAA75042.1 .
    AF036367 , AF036366 Genomic DNA. Translation: AAC39758.1 .
    AF036365 mRNA. Translation: AAC39756.1 .
    AK291892 mRNA. Translation: BAF84581.1 . Different initiation.
    AC068312 Genomic DNA. No translation available.
    BC069368 mRNA. Translation: AAH69368.1 .
    BC102033 mRNA. Translation: AAI02034.1 .
    BC102036 mRNA. Translation: AAI02037.1 .
    BC102037 mRNA. Translation: AAI02038.1 .
    CCDSi CCDS2569.1.
    RefSeqi NP_001225.1. NM_001234.4.
    NP_203123.1. NM_033337.2.
    UniGenei Hs.98303.

    3D structure databases

    ProteinModelPortali P56539.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107307. 17 interactions.
    IntActi P56539. 3 interactions.
    MINTi MINT-3021471.
    STRINGi 9606.ENSP00000341940.

    PTM databases

    PhosphoSitei P56539.

    Polymorphism databases

    DMDMi 3182930.

    Proteomic databases

    PaxDbi P56539.
    PRIDEi P56539.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343849 ; ENSP00000341940 ; ENSG00000182533 .
    ENST00000397368 ; ENSP00000380525 ; ENSG00000182533 .
    GeneIDi 859.
    KEGGi hsa:859.
    UCSCi uc003bra.3. human.

    Organism-specific databases

    CTDi 859.
    GeneCardsi GC03P008775.
    GeneReviewsi CAV3.
    HGNCi HGNC:1529. CAV3.
    HPAi CAB017518.
    CAB018557.
    MIMi 123320. phenotype.
    192600. phenotype.
    272120. phenotype.
    601253. gene.
    606072. phenotype.
    607801. phenotype.
    611818. phenotype.
    614321. phenotype.
    neXtProti NX_P56539.
    Orphaneti 265. Autosomal dominant limb-girdle muscular dystrophy type 1C.
    155. Familial isolated hypertrophic cardiomyopathy.
    97238. Rippling muscle disease.
    101016. Romano-Ward syndrome.
    PharmGKBi PA26109.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86001.
    HOGENOMi HOG000036550.
    HOVERGENi HBG003422.
    InParanoidi P56539.
    KOi K12959.
    OMAi KVMLRKE.
    OrthoDBi EOG7V1FSD.
    PhylomeDBi P56539.
    TreeFami TF315736.

    Enzyme and pathway databases

    SignaLinki P56539.

    Miscellaneous databases

    GeneWikii Caveolin_3.
    GenomeRNAii 859.
    NextBioi 3566.
    PROi P56539.
    SOURCEi Search...

    Gene expression databases

    Bgeei P56539.
    CleanExi HS_CAV3.
    Genevestigatori P56539.

    Family and domain databases

    InterProi IPR001612. Caveolin.
    IPR018361. Caveolin_CS.
    [Graphical view ]
    PANTHERi PTHR10844. PTHR10844. 1 hit.
    Pfami PF01146. Caveolin. 1 hit.
    [Graphical view ]
    PROSITEi PS01210. CAVEOLIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LGMD1C 64-THR--THR-66 DEL AND LEU-105.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Skeletal muscle.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS SER-56 AND TRP-72.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    5. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members."
      Sotgia F., Lee J.K., Das K., Bedford M., Petrucci T.C., Macioce P., Sargiacomo M., Bricarelli F.D., Minetti C., Sudol M., Lisanti M.P.
      J. Biol. Chem. 275:38048-38058(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DAG1.
    8. "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle."
      Matsuda C., Hayashi Y.K., Ogawa M., Aoki M., Murayama K., Nishino I., Nonaka I., Arahata K., Brown R.H. Jr.
      Hum. Mol. Genet. 10:1761-1766(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DYSF, VARIANT LGMD1C PRO-64.
    9. "Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization."
      Fuhs S.R., Insel P.A.
      J. Biol. Chem. 286:14830-14841(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-38.
    10. "Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy."
      Herrmann R., Straub V., Blank M., Kutzick C., Franke N., Jacob E.N., Lenard H.-G., Kroger S., Voit T.
      Hum. Mol. Genet. 9:2335-2340(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LGMD1C THR-46.
    11. "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia."
      Carbone I., Bruno C., Sotgia F., Bado M., Broda P., Masetti E., Panella A., Zara F., Bricarelli F.D., Cordone G., Lisanti M.P., Minetti C.
      Neurology 54:1373-1376(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPCK GLN-27.
    12. Cited for: VARIANTS SER-56; TRP-72 AND HIS-126.
    13. Cited for: VARIANTS RMD GLN-27; THR-46; VAL-46 AND LEU-105, SURFACE EXPRESSION OF VARIANT RMD THR-46.
    14. "A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation."
      Vorgerd M., Ricker K., Ziemssen F., Kress W., Goebel H.H., Nix W.A., Kubisch C., Schoser B.G.H., Mortier W.
      Neurology 57:2273-2277(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RMD GLN-27.
    15. "Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene."
      Merlini L., Carbone I., Capanni C., Sabatelli P., Tortorelli S., Sotgia F., Lisanti M.P., Bruno C., Minetti C.
      J. Neurol. Neurosurg. Psych. 73:65-67(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPCK LEU-29.
    16. Erratum
      Merlini L., Carbone I., Capanni C., Sabatelli P., Tortorelli S., Sotgia F., Lisanti M.P., Bruno C., Minetti C.
      J. Neurol. Neurosurg. Psych. 74:142-142(2003)
    17. Cited for: VARIANT MPDT GLN-27.
    18. "Consequences of a novel caveolin-3 mutation in a large German family."
      Fischer D., Schroers A., Blumcke I., Urbach H., Zerres K., Mortier W., Vorgerd M., Schroder R.
      Ann. Neurol. 53:233-241(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RMD GLU-28, VARIANT LGMD1C GLU-28.
    19. Cited for: VARIANTS RMD PRO-87 AND THR-93.
    20. "Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene."
      Figarella-Branger D., Pouget J., Bernard R., Krahn M., Fernandez C., Levy N., Pellissier J.F.
      Neurology 61:562-564(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LGMD1C GLN-27.
    21. Cited for: VARIANT HYPCK PHE-97 DEL.
    22. "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy."
      Hayashi T., Arimura T., Ueda K., Shibata H., Hohda S., Takahashi M., Hori H., Koga Y., Oka N., Imaizumi T., Yasunami M., Kimura A.
      Biochem. Biophys. Res. Commun. 313:178-184(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH SER-64.
    23. "A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia."
      Alias L., Gallano P., Moreno D., Pujol R., Martinez-Matos J.A., Baiget M., Ferrer I., Olive M.
      Neuromuscul. Disord. 14:321-324(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPCK MET-57.
    24. Cited for: VARIANTS LGMD1C LYS-33 AND GLU-44.
    25. "Autosomal recessive rippling muscle disease with homozygous CAV3 mutations."
      Kubisch C., Ketelsen U.-P., Goebel I., Omran H.
      Ann. Neurol. 57:303-304(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RMD THR-93.
    26. "Molecular and muscle pathology in a series of caveolinopathy patients."
      Fulizio L., Chiara-Nascimbeni A., Fanin M., Piluso G., Politano L., Nigro V., Angelini C.
      Hum. Mutat. 25:82-89(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPCK GLN-27, VARIANT LGMD1C THR-46, VARIANT MPDT LYS-33, VARIANT MYOPATHY ARG-61.
    27. "A new missense mutation in caveolin-3 gene causes rippling muscle disease."
      Dotti M.T., Malandrini A., Gambelli S., Salvadori C., De Stefano N., Federico A.
      J. Neurol. Sci. 243:61-64(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RMD GLY-53.
    28. "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome."
      Vatta M., Ackerman M.J., Ye B., Makielski J.C., Ughanze E.E., Taylor E.W., Tester D.J., Balijepalli R.C., Foell J.D., Li Z., Kamp T.J., Towbin J.A.
      Circulation 114:2104-2112(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LQT9 MET-78; THR-85; CYS-97 AND ARG-141, VARIANTS SER-56 AND TRP-72, CHARACTERIZATION OF VARIANTS LQT9 CYS-97 AND ARG-141.
    29. "Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3."
      Cronk L.B., Ye B., Kaku T., Tester D.J., Vatta M., Makielski J.C., Ackerman M.J.
      Heart Rhythm 4:161-166(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LQT9/SIDS LEU-14; MET-78 AND ARG-79.

    Entry informationi

    Entry nameiCAV3_HUMAN
    AccessioniPrimary (citable) accession number: P56539
    Secondary accession number(s): A8K777, Q3T1A4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 140 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    It is uncertain whether Met-1 or Met-2 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3