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P56539

- CAV3_HUMAN

UniProt

P56539 - CAV3_HUMAN

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Protein
Caveolin-3
Gene
CAV3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 C-terminus binding Source: UniProtKB
  6. protein binding Source: UniProtKB
  7. protein complex binding Source: UniProtKB
  8. protein complex scaffold Source: BHF-UCL
  9. sodium channel regulator activity Source: BHF-UCL

GO - Biological processi

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8383Cytoplasmic Reviewed prediction
Add
BLAST
Intramembranei84 – 10421Helical; Reviewed prediction
Add
BLAST
Topological domaini105 – 15147Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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-3
PRO_0000144140Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki38 – 38Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)1 Publication

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.2 Publications

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP56539.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni64 – 11451Required for interaction with DAG1
Add
BLAST

Sequence similaritiesi

Belongs to the caveolin family.

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 139 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.

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

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