Seroatlas · Human Serome Atlas

CAVIN1

Caveolae-associated protein 1

Also known as: cavin-1, CAVN1_HUMAN, CGL4, PTRF

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

Protein identityUniProt · HPA

UniProt accession
Q6NZI2
Gene
CAVIN1
Ensembl
ENSG00000177469
Chromosome
17
Canonical length
390 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

390 residues, UniProt reviewed canonical sequence.

>Q6NZI2|CAVIN1
     1  MEDPTLYIVE RPLPGYPDAE APEPSSAGAQ AAEEPSGAGS EELIKSDQVN GVLVLSLLDK
    61  IIGAVDQIQL TQAQLEERQA EMEGAVQSIQ GELSKLGKAH ATTSNTVSKL LEKVRKVSVN
   121  VKTVRGSLER QAGQIKKLEV NEAELLRRRN FKVMIYQDEV KLPAKLSISK SLKESEALPE
   181  KEGEELGEGE RPEEDAAALE LSSDEAVEVE EVIEESRAER IKRSGLRRVD DFKKAFSKEK
   241  MEKTKVRTRE NLEKTRLKTK ENLEKTRHTL EKRMNKLGTR LVPAERREKL KTSRDKLRKS
   301  FTPDHVVYAR SKTAVYKVPP FTFHVKKIRE GQVEVLKATE MVEVGADDDE GGAERGEAGD
   361  LRRGSSPDVH ALLEITEESD AVLVDKSDSD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAVIN1 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)
0.62
Highest tissue expression
574 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 574 nTPM
  • adipose tissue: 404 nTPM
  • endometrium: 343 nTPM
  • colon: 323 nTPM
  • breast: 307 nTPM
  • urinary bladder: 256 nTPM

Single-cell type

  • vascular smooth muscle cells: 569 nCPM
  • hepatic stellate cells: 568 nCPM
  • alveolar cells type 1: 483 nCPM
  • smooth muscle cells: 434 nCPM
  • peritubular myoid cells: 413 nCPM
  • breast myoepithelial cells: 379 nCPM

Immune cell

  • basophil: 0.8 nTPM
  • neutrophil: 0.4 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • gdT-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM
  • naive CD4 T-cell: 0.1 nTPM

Brain region

  • medulla oblongata: 115 nTPM
  • white matter: 89 nTPM
  • cerebellum: 87 nTPM
  • midbrain: 85 nTPM
  • spinal cord: 83 nTPM
  • pons: 79 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAVIN1.

Disease | AllUniProt

Conditions CAVIN1 is implicated in, by any mechanism.

  • Lipodystrophy, congenital generalized, 4 (CGL4) MIM:613327

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 183 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)
1.08
gnomAD pLI
0
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 CAVIN1 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 CAVIN1 as an antibody target. Whether an autoantibody or antibody against CAVIN1 could matter depends on whether native CAVIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CAVIN1 is annotated at the cell surface, where native CAVIN1 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 CAVIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CAVIN1. 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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