Seroatlas · Human Serome Atlas

CAV3

Caveolin-3

Also known as: CAV3_HUMAN, LGMD1C, LQT9, VIP-21, VIP21

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P56539
Gene
CAV3
Ensembl
ENSG00000182533
Chromosome
3
Canonical length
151 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Vesicles,Plasma membrane
Quaternary structure
Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

151 residues, UniProt reviewed canonical sequence.

>P56539|CAV3
     1  MMAEEHTDLE AQIVKDIHCK EIDLVNRDPK NINEDIVKVD FEDVIAEPVG TYSFDGVWKV
    61  SYTTFTVSKY WCYRLLSTLL GVPLALLWGF LFACISFCHI WAVVPCIKSY LIEIQCISHI
   121  YSLCIRTFCN PLFAALGQVC SSIKVVLRKE V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAV3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
171 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 171 nTPM
  • tongue: 68 nTPM
  • heart muscle: 26 nTPM
  • esophagus: 5.4 nTPM
  • blood vessel: 3.4 nTPM
  • salivary gland: 2.4 nTPM

Single-cell type

  • thymic myoid cells: 117 nCPM
  • myonuclei: 77 nCPM
  • epicardial cells: 41 nCPM
  • cardiomyocytes: 41 nCPM
  • retinal ganglion cells: 35 nCPM
  • early spermatids: 25 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • basal ganglia: 0.6 nTPM
  • cerebral cortex: 0.6 nTPM
  • hypothalamus: 0.6 nTPM
  • midbrain: 0.6 nTPM
  • amygdala: 0.5 nTPM
  • hippocampal formation: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAV3.

Disease | AllUniProt

Conditions CAV3 is implicated in, by any mechanism.

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 415 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.47
gnomAD pLI
0.01
gnomAD missense Z
0.83
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CAV3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CAV3 as an antibody target. Whether an autoantibody or antibody against CAV3 could matter depends on whether native CAV3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CAV3 is annotated at the cell surface, where native CAV3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CAV3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CAV3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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