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Protein

Caveolin-3

Gene

CAV3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).By similarity1 Publication

Caution

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • alpha-tubulin binding Source: Ensembl
  • calcium channel regulator activity Source: BHF-UCL
  • connexin binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: Ensembl
  • potassium channel inhibitor activity Source: BHF-UCL
  • protein-containing complex binding Source: UniProtKB
  • protein-containing complex scaffold activity Source: BHF-UCL
  • protein C-terminus binding Source: UniProtKB
  • sodium channel regulator activity Source: BHF-UCL
  • structural molecule activity Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-445355 Smooth Muscle Contraction

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P56539

SIGNOR Signaling Network Open Resource

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SIGNORi
P56539

Protein family/group databases

Transport Classification Database

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TCDBi
1.F.1.2.1 the synaptosomal vesicle fusion pore (svf-pore) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Caveolin-3
Alternative name(s):
M-caveolin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CAV3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000182533.6

Human Gene Nomenclature Database

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HGNCi
HGNC:1529 CAV3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601253 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P56539

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 83CytoplasmicSequence analysisAdd BLAST83
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei84 – 104HelicalSequence analysisAdd BLAST21
Topological domaini105 – 151CytoplasmicSequence analysisAdd BLAST47

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Limb-girdle muscular dystrophy 1C (LGMD1C)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA degenerative myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. Inheritance can be autosomal dominant or recessive.
See also OMIM:607801
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02101744V → E in LGMD1C. 1 PublicationCorresponds to variant dbSNP:rs116840788EnsemblClinVar.1
Natural variantiVAR_00140264 – 66Missing in LGMD1C. 1 Publication3
Natural variantiVAR_02101864T → P in LGMD1C. 1 PublicationCorresponds to variant dbSNP:rs199476332EnsemblClinVar.1
HyperCKmia (HYPCK)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by persistent elevated levels of serum creatine kinase without muscle weakness.
See also OMIM:123320
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01151227R → Q in HYPCK, RMD2, LGMD1C and MPDT. 6 PublicationsCorresponds to variant dbSNP:rs116840778EnsemblClinVar.1
Natural variantiVAR_02954029P → L in HYPCK. 1 PublicationCorresponds to variant dbSNP:rs116840786EnsemblClinVar.1
Natural variantiVAR_01074257V → M in HYPCK. 1 PublicationCorresponds to variant dbSNP:rs116840795EnsemblClinVar.1
Natural variantiVAR_02954497Missing in HYPCK. 1 Publication1
Rippling muscle disease 2 (RMD2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606072
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01151446A → V in RMD2. 1 PublicationCorresponds to variant dbSNP:rs116840773EnsemblClinVar.1
Natural variantiVAR_02954153S → G in RMD2. 1 PublicationCorresponds to variant dbSNP:rs116840794EnsemblClinVar.1
Natural variantiVAR_01620787L → P in RMD2. 1 PublicationCorresponds to variant dbSNP:rs28936685EnsemblClinVar.1
Natural variantiVAR_01620893A → T in RMD2. 2 PublicationsCorresponds to variant dbSNP:rs28936686EnsemblClinVar.1
Cardiomyopathy, familial hypertrophic (CMH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:192600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02954364T → S in CMH. 1 PublicationCorresponds to variant dbSNP:rs121909280EnsemblClinVar.1
Long QT syndrome 9 (LQT9)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611818
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04369785A → T in LQT9. 1 PublicationCorresponds to variant dbSNP:rs104893715EnsemblClinVar.1
Natural variantiVAR_04369897F → C in LQT9; increase in late sodium current. 1 PublicationCorresponds to variant dbSNP:rs104893714EnsemblClinVar.1
Natural variantiVAR_043699141S → R in LQT9; increase in late sodium current. 1 PublicationCorresponds to variant dbSNP:rs104893713EnsemblClinVar.1
Sudden infant death syndrome (SIDS)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionSIDS 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.
See also OMIM:272120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04369414V → L in SIDS. 1 PublicationCorresponds to variant dbSNP:rs121909281EnsemblClinVar.1
Myopathy, distal, Tateyama type (MPDT)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614321

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
859

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CAV3

MalaCards human disease database

More...
MalaCardsi
CAV3
MIMi123320 phenotype
192600 phenotype
272120 phenotype
606072 phenotype
607801 phenotype
611818 phenotype
614321 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000182533

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
265 Autosomal dominant limb-girdle muscular dystrophy type 1C
488650 Distal myopathy, Tateyama type
206599 Isolated asymptomatic elevation of creatine phosphokinase
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
97238 Rippling muscle disease
101016 Romano-Ward syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26109

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CAV3

Domain mapping of disease mutations (DMDM)

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DMDMi
3182930

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001441401 – 151Caveolin-3Add BLAST151

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki38Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P56539

MaxQB - The MaxQuant DataBase

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MaxQBi
P56539

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P56539

PeptideAtlas

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PeptideAtlasi
P56539

PRoteomics IDEntifications database

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PRIDEi
P56539

ProteomicsDB human proteome resource

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ProteomicsDBi
56922

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P56539

SwissPalm database of S-palmitoylation events

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SwissPalmi
P56539

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000182533 Expressed in 106 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

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CleanExi
HS_CAV3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P56539 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P56539 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB017518
CAB018557
HPA054488

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex. Interacts with TRIM72. Interacts with MUSK; may regulate MUSK signaling. Interacts with DAG1 (via its C-terminal); the interaction prevents binding of DAG1 with DMD (PubMed:10988290). Interacts with DYSF (PubMed:11532985). Interacts with BVES (By similarity). Interacts with CAVIN1 and CAVIN2 (PubMed:24567387). Interacts with CAVIN4 (PubMed:24567387, PubMed:11251997).By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MP0DOE72EBI-3905936,EBI-10042882From Human respiratory syncytial virus A (strain A2).

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107307, 50 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P56539

Protein interaction database and analysis system

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IntActi
P56539, 7 interactors

Molecular INTeraction database

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MINTi
P56539

STRING: functional protein association networks

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STRINGi
9606.ENSP00000341940

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P56539

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni64 – 114Required for interaction with DAG11 PublicationAdd BLAST51

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the caveolin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IXSQ Eukaryota
ENOG41121CB LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154055

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000036550

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003422

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P56539

KEGG Orthology (KO)

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KOi
K12959

Identification of Orthologs from Complete Genome Data

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OMAi
VKDIHFK

Database of Orthologous Groups

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OrthoDBi
EOG091G0M1R

Database for complete collections of gene phylogenies

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PhylomeDBi
P56539

TreeFam database of animal gene trees

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TreeFami
TF315736

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031091 CAV-3
IPR001612 Caveolin
IPR018361 Caveolin_CS

The PANTHER Classification System

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PANTHERi
PTHR10844 PTHR10844, 1 hit
PTHR10844:SF16 PTHR10844:SF16, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01146 Caveolin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01210 CAVEOLIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P56539-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMAEEHTDLE AQIVKDIHCK EIDLVNRDPK NINEDIVKVD FEDVIAEPVG
60 70 80 90 100
TYSFDGVWKV SYTTFTVSKY WCYRLLSTLL GVPLALLWGF LFACISFCHI
110 120 130 140 150
WAVVPCIKSY LIEIQCISHI YSLCIRTFCN PLFAALGQVC SSIKVVLRKE

V
Length:151
Mass (Da):17,259
Last modified:July 15, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC695E14F5B8F4753
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04369414V → L in SIDS. 1 PublicationCorresponds to variant dbSNP:rs121909281EnsemblClinVar.1
Natural variantiVAR_01151227R → Q in HYPCK, RMD2, LGMD1C and MPDT. 6 PublicationsCorresponds to variant dbSNP:rs116840778EnsemblClinVar.1
Natural variantiVAR_01537428D → E in RMD2 and LGMD1C. 1 PublicationCorresponds to variant dbSNP:rs116840782EnsemblClinVar.1
Natural variantiVAR_02954029P → L in HYPCK. 1 PublicationCorresponds to variant dbSNP:rs116840786EnsemblClinVar.1
Natural variantiVAR_02101633N → K in LGMD1C and MPDT. 2 PublicationsCorresponds to variant dbSNP:rs1008642EnsemblClinVar.1
Natural variantiVAR_02101744V → E in LGMD1C. 1 PublicationCorresponds to variant dbSNP:rs116840788EnsemblClinVar.1
Natural variantiVAR_01151346A → T in LGMD1C and RMD2; decreased surface expression of the CAV3 protein. 3 PublicationsCorresponds to variant dbSNP:rs116840789EnsemblClinVar.1
Natural variantiVAR_01151446A → V in RMD2. 1 PublicationCorresponds to variant dbSNP:rs116840773EnsemblClinVar.1
Natural variantiVAR_02954153S → G in RMD2. 1 PublicationCorresponds to variant dbSNP:rs116840794EnsemblClinVar.1
Natural variantiVAR_02954256G → S3 PublicationsCorresponds to variant dbSNP:rs72546667EnsemblClinVar.1
Natural variantiVAR_01074257V → M in HYPCK. 1 PublicationCorresponds to variant dbSNP:rs116840795EnsemblClinVar.1
Natural variantiVAR_02669661S → R in a patient with mild proximal myopathy. 1 PublicationCorresponds to variant dbSNP:rs116840796EnsemblClinVar.1
Natural variantiVAR_00140264 – 66Missing in LGMD1C. 1 Publication3
Natural variantiVAR_02101864T → P in LGMD1C. 1 PublicationCorresponds to variant dbSNP:rs199476332EnsemblClinVar.1
Natural variantiVAR_02954364T → S in CMH. 1 PublicationCorresponds to variant dbSNP:rs121909280EnsemblClinVar.1
Natural variantiVAR_01074372C → W3 PublicationsCorresponds to variant dbSNP:rs116840776EnsemblClinVar.1
Natural variantiVAR_04369578T → M in LQT9 and SIDS. 2 PublicationsCorresponds to variant dbSNP:rs72546668EnsemblClinVar.1
Natural variantiVAR_04369679L → R in LQT9 and SIDS. 1 PublicationCorresponds to variant dbSNP:rs121909282EnsemblClinVar.1
Natural variantiVAR_04369785A → T in LQT9. 1 PublicationCorresponds to variant dbSNP:rs104893715EnsemblClinVar.1
Natural variantiVAR_01620787L → P in RMD2. 1 PublicationCorresponds to variant dbSNP:rs28936685EnsemblClinVar.1
Natural variantiVAR_01620893A → T in RMD2. 2 PublicationsCorresponds to variant dbSNP:rs28936686EnsemblClinVar.1
Natural variantiVAR_04369897F → C in LQT9; increase in late sodium current. 1 PublicationCorresponds to variant dbSNP:rs104893714EnsemblClinVar.1
Natural variantiVAR_02954497Missing in HYPCK. 1 Publication1
Natural variantiVAR_001403105P → L in LGMD1C and RMD2. 2 PublicationsCorresponds to variant dbSNP:rs116840805EnsemblClinVar.1
Natural variantiVAR_029545126R → H1 PublicationCorresponds to variant dbSNP:rs116840777EnsemblClinVar.1
Natural variantiVAR_043699141S → R in LQT9; increase in late sodium current. 1 PublicationCorresponds to variant dbSNP:rs104893713EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2569.1

NCBI Reference Sequences

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RefSeqi
NP_001225.1, NM_001234.4
NP_203123.1, NM_033337.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.98303

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000343849; ENSP00000341940; ENSG00000182533
ENST00000397368; ENSP00000380525; ENSG00000182533

Database of genes from NCBI RefSeq genomes

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GeneIDi
859

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:859

UCSC genome browser

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UCSCi
uc003bra.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

CAV3/LGMD1C

Caveolin-3/LGMD-1C page

Wikipedia

Caveolin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP56539
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107307, 50 interactors
CORUMiP56539
IntActiP56539, 7 interactors
MINTiP56539
STRINGi9606.ENSP00000341940

Protein family/group databases

TCDBi1.F.1.2.1 the synaptosomal vesicle fusion pore (svf-pore) family

PTM databases

PhosphoSitePlusiP56539
SwissPalmiP56539

Polymorphism and mutation databases

BioMutaiCAV3
DMDMi3182930

Proteomic databases

EPDiP56539
MaxQBiP56539
PaxDbiP56539
PeptideAtlasiP56539
PRIDEiP56539
ProteomicsDBi56922

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343849; ENSP00000341940; ENSG00000182533
ENST00000397368; ENSP00000380525; ENSG00000182533
GeneIDi859
KEGGihsa:859
UCSCiuc003bra.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
859
DisGeNETi859
EuPathDBiHostDB:ENSG00000182533.6

GeneCards: human genes, protein and diseases

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GeneCardsi
CAV3
GeneReviewsiCAV3
HGNCiHGNC:1529 CAV3
HPAiCAB017518
CAB018557
HPA054488
MalaCardsiCAV3
MIMi123320 phenotype
192600 phenotype
272120 phenotype
601253 gene
606072 phenotype
607801 phenotype
611818 phenotype
614321 phenotype
neXtProtiNX_P56539
OpenTargetsiENSG00000182533
Orphaneti265 Autosomal dominant limb-girdle muscular dystrophy type 1C
488650 Distal myopathy, Tateyama type
206599 Isolated asymptomatic elevation of creatine phosphokinase
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
97238 Rippling muscle disease
101016 Romano-Ward syndrome
PharmGKBiPA26109

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IXSQ Eukaryota
ENOG41121CB LUCA
GeneTreeiENSGT00940000154055
HOGENOMiHOG000036550
HOVERGENiHBG003422
InParanoidiP56539
KOiK12959
OMAiVKDIHFK
OrthoDBiEOG091G0M1R
PhylomeDBiP56539
TreeFamiTF315736

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiP56539
SIGNORiP56539

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CAV3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Caveolin_3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
859

Protein Ontology

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PROi
PR:P56539

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000182533 Expressed in 106 organ(s), highest expression level in muscle of leg
CleanExiHS_CAV3
ExpressionAtlasiP56539 baseline and differential
GenevisibleiP56539 HS

Family and domain databases

InterProiView protein in InterPro
IPR031091 CAV-3
IPR001612 Caveolin
IPR018361 Caveolin_CS
PANTHERiPTHR10844 PTHR10844, 1 hit
PTHR10844:SF16 PTHR10844:SF16, 1 hit
PfamiView protein in Pfam
PF01146 Caveolin, 1 hit
PROSITEiView protein in PROSITE
PS01210 CAVEOLIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCAV3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P56539
Secondary accession number(s): A8K777, Q3T1A4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: December 5, 2018
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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