Tbio CAV3 Caveolin-3

Protein Classes

PANTHER Classes

Protein / Transmembrane Receptor Regulatory/adaptor Protein / Caveolin-3

Protein / Structural Protein / Caveolin-3

Protein / Membrane Traffic Protein / Caveolin-3

Protein / Enzyme Modulator / G-protein Modulator / Caveolin-3

DTO Classes

Protein / Enzyme Modulator / G-protein Modulator / Caveolin-3

Protein Summary

Description

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). This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P56539
• A8K777
• Q3T1A4

Gene Name

• CAV3

Ensembl ID

• ENST00000343849
• ENSP00000341940
• ENSG00000182533
• ENST00000397368
• ENSP00000380525

Symbol

• LQT9
• MPDT
• RMD2
• VIP21
• LGMD1C
• VIP-21

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
cell type or tissue	0.84
molecular function	0.79
cellular component	0.75
biological term	0.73

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 508.41   (req: < 5)

Gene RIFs: 77   (req: <= 3)

Antibodies: 264   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 508.41   (req: >= 5)

Gene RIFs: 77   (req: > 3)

Antibodies: 264   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 72

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (1)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
chronotype measurement	EFO_0008328	1	1	0	1.1	55.6

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
chronotype measurement	EFO_0008328	0	1.1	55.6

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Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	caveolin 3	VGNC:1753	738786
Macaque	caveolin 3		702163
Mouse	caveolin 3	MGI:107570	12391
Rat	caveolin 3	RGD:2281	29161
Dog	caveolin 3	VGNC:38753	484671

Species	Name	OMA	EggNOG	Inparanoid
Chimp	caveolin 3
Macaque	caveolin 3
Mouse	caveolin 3
Rat	caveolin 3
Dog	caveolin 3

Protein Structure (0 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

AF-P56539-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (24)

Reactome (2)

KEGG (5)

PathwayCommons (1)

WikiPathways (16)

Muscle contraction (R-HSA-397014)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Muscle contraction	202 targets	R-HSA-397014
Reactome	Smooth Muscle Contraction	37 targets	R-HSA-445355

Name	Explore in Pharos	Explore in Source
Muscle contraction	202 targets	R-HSA-397014
Smooth Muscle Contraction	37 targets	R-HSA-445355

Gene Ontology Terms (87)

Functions (11)

Components (15)

Processes (61)

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Items per page:

10

1 – 10 of 11

GO Term	Evidence	Assigned by
calcium channel regulator activity	Inferred from Direct Assay (IDA)	BHF-UCL
connexin binding	Inferred from Direct Assay (IDA)	BHF-UCL
protein C-terminus binding	Inferred from Direct Assay (IDA)	UniProtKB
protein-containing complex binding	Inferred from Direct Assay (IDA)	UniProtKB
sodium channel regulator activity	Inferred from Direct Assay (IDA)	BHF-UCL
ion channel binding	Inferred from Physical Interaction (IPI)	BHF-UCL
protein-containing complex scaffold activity	Inferred from Physical Interaction (IPI)	BHF-UCL
structural molecule activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
potassium channel inhibitor activity	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
alpha-tubulin binding	Inferred from Electronic Annotation (IEA)	Ensembl

Protein-Protein Interactions (243)

Explore Interacting Targets

1 – 10 of 243

• See Interactions on String-DB

ANKRD13C

Tbio

Novelty: 1.5309683

p_int: 0.999999058

p_ni: 9.42e-7

Score: 0.199

Data Source: BioPlex,STRINGDB

ENDOD1

Tdark

Family: Enzyme

Novelty: 0.26430864

p_int: 0.999998886

p_ni: 0.000001114

Data Source: BioPlex

SARM1

Tbio

Novelty: 0.00510488

p_int: 0.999993235

p_ni: 0.000006765

Data Source: BioPlex

CEP95

Tdark

Novelty: 1.18897795

p_int: 0.99999226

p_ni: 0.000007615

p_wrong: 1.25e-7

Score: 0.187

Data Source: BioPlex,STRINGDB

CENPT

Tbio

Novelty: 0.03878936

p_int: 0.999984769

p_ni: 0.000015161

p_wrong: 7e-8

Score: 0.19

Data Source: BioPlex,STRINGDB

MIS18BP1

Tbio

Novelty: 0.05688807

p_int: 0.999983346

p_ni: 0.000016645

p_wrong: 1e-8

Score: 0.663

Data Source: BioPlex,STRINGDB

MCM10

Tbio

Novelty: 0.0136058

p_int: 0.999946879

p_ni: 0.000053121

Data Source: BioPlex

CAV1

Tbio

Novelty: 0.00035244

p_int: 0.999885841

p_ni: 0.000113977

p_wrong: 1.83e-7

Score: 0.825

Data Source: BioPlex,STRINGDB

GTSE1

Tbio

Family: Enzyme

Novelty: 0.0460569

p_int: 0.999832601

p_ni: 0.000167399

Score: 0.185

Data Source: BioPlex,STRINGDB

REEP1

Tbio

Novelty: 0.02280713

p_int: 0.999792003

p_ni: 0.000066016

p_wrong: 0.000141981

Score: 0.527

Data Source: BioPlex,STRINGDB

Publication Statistics

PubMed Score  508.41

PubMed score by year

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PubTator Score  311.75

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

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UniProt Keyword Find Similar Targets

Cardiomyopathy
Cell membrane
Complete proteome
Disease mutation
Golgi apparatus
Isopeptide bond
Limb-girdle muscular dystrophy
Long QT syndrome
Membrane
Polymorphism

GWAS Trait Find Similar Targets

chronotype measurement

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
muscle phenotype
skeleton phenotype