CAV3
entrez
859
canonical
uniprot
P56539
canonical
ensembl
ENSG00000182533
resolver
ensp
ENSP00000341940
resolver
ensp
ENSP00000380525
resolver
enst
ENST00000343849
resolver
enst
ENST00000397368
resolver
genesymbol
CAV3
resolver
hgnc
HGNC:1529
resolver
uniprot
A8K777
resolver
uniprot
Q3T1A4
resolver
uniprot_entry
CAV3_HUMAN
resolver
uniprot_sec
A8K777
resolver
uniprot_sec
Q3T1A4
resolver
amino_acid_sequence
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV
uniprot
proteins
disease_involvement
DISEASE: HyperCKmia (HYPCK) [MIM:123320]: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. {ECO:0000269|PubMed:10746614, ECO:0000269|PubMed:12082049, ECO:0000269|PubMed:14663034, ECO:0000269|PubMed:15099591, ECO:0000269|PubMed:15580566}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rippling muscle disease 2 (RMD2) [MIM:606072]: A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:11001938, ECO:0000269|PubMed:11431690, ECO:0000269|PubMed:11532985, ECO:0000269|PubMed:11756609, ECO:0000269|PubMed:12557291, ECO:0000269|PubMed:12666119, ECO:0000269|PubMed:12939441, ECO:0000269|PubMed:15564037, ECO:0000269|PubMed:15580566, ECO:0000269|PubMed:15668980, ECO:0000269|PubMed:16458928, ECO:0000269|PubMed:9537420}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:14672715}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:17060380, ECO:0000269|PubMed:17275750}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:17275750}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:11805270, ECO:0000269|PubMed:15580566}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564). {ECO:0000250|UniProtKB:P51637, ECO:0000269|PubMed:19262564}.
uniprot
proteins
mass_dalton
17259
uniprot
proteins
post_translational_modification
PTM: Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2. {ECO:0000269|PubMed:21362625}.
uniprot
proteins
protein_family
Caveolin family
uniprot
proteins
pubmed
10746614
uniprot
proteins
pubmed
10988290
uniprot
proteins
pubmed
11001938
uniprot
proteins
pubmed
11251997
uniprot
proteins
pubmed
11431690
uniprot
proteins
pubmed
11532985
uniprot
proteins
pubmed
11756609
uniprot
proteins
pubmed
11805270
uniprot
proteins
pubmed
12082049
uniprot
proteins
pubmed
12557291
uniprot
proteins
pubmed
12666119
uniprot
proteins
pubmed
12939441
uniprot
proteins
pubmed
14663034
uniprot
proteins
pubmed
14672715
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15099591
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15564037
uniprot
proteins
pubmed
15580566
uniprot
proteins
pubmed
15668980
uniprot
proteins
pubmed
16458928
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17060380
uniprot
proteins
pubmed
17275750
uniprot
proteins
pubmed
19262564
uniprot
proteins
pubmed
21362625
uniprot
proteins
pubmed
24567387
uniprot
proteins
pubmed
26497963
uniprot
proteins
pubmed
9536092
uniprot
proteins
pubmed
9537420
uniprot
proteins
pubmed
9545514
uniprot
proteins
sequence_length
151
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250|UniProtKB:P51638}; Peripheral membrane protein {ECO:0000250}. Membrane, caveola {ECO:0000250|UniProtKB:P51637}; Peripheral membrane protein {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P51637}. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.
uniprot
proteins