Seroatlas · Human Serome Atlas

AVIL

Advillin

Also known as: ADVIL, AVIL_HUMAN, DOC6, FLJ12386, p92

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

Protein identityUniProt · HPA

UniProt accession
O75366
Gene
AVIL
Ensembl
ENSG00000135407
Chromosome
12
Canonical length
819 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

819 residues, UniProt reviewed canonical sequence.

>O75366|AVIL
     1  MPLTSAFRAV DNDPGIIVWR IEKMELALVP VSAHGNFYEG DCYVILSTRR VASLLSQDIH
    61  FWIGKDSSQD EQSCAAIYTT QLDDYLGGSP VQHREVQYHE SDTFRGYFKQ GIIYKQGGVA
   121  SGMKHVETNT YDVKRLLHVK GKRNIRATEV EMSWDSFNRG DVFLLDLGKV IIQWNGPESN
   181  SGERLKAMLL AKDIRDRERG GRAKIGVIEG DKEAASPELM KVLQDTLGRR SIIKPTVPDE
   241  IIDQKQKSTI MLYHISDSAG QLAVTEVATR PLVQDLLNHD DCYILDQSGT KIYVWKGKGA
   301  TKAEKQAAMS KALGFIKMKS YPSSTNVETV NDGAESAMFK QLFQKWSVKD QTMGLGKTFS
   361  IGKIAKVFQD KFDVTLLHTK PEVAAQERMV DDGNGKVEVW RIENLELVPV EYQWYGFFYG
   421  GDCYLVLYTY EVNGKPHHIL YIWQGRHASQ DELAASAYQA VEVDRQFDGA AVQVRVRMGT
   481  EPRHFMAIFK GKLVIFEGGT SRKGNAEPDP PVRLFQIHGN DKSNTKAVEV PAFASSLNSN
   541  DVFLLRTQAE HYLWYGKGSS GDERAMAKEL ASLLCDGSEN TVAEGQEPAE FWDLLGGKTP
   601  YANDKRLQQE ILDVQSRLFE CSNKTGQFVV TEITDFTQDD LNPTDVMLLD TWDQVFLWIG
   661  AEANATEKES ALATAQQYLH THPSGRDPDT PILIIKQGFE PPIFTGWFLA WDPNIWSAGK
   721  TYEQLKEELG DAAAIMRITA DMKNATLSLN SNDSEPKYYP IAVLLKNQNQ ELPEDVNPAK
   781  KENYLSEQDF VSVFGITRGQ FAALPGWKQL QMKKEKGLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AVIL 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)
0.26
Highest tissue expression
9.2 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 9.2 nTPM
  • cerebellum: 7.9 nTPM
  • retina: 4.2 nTPM
  • small intestine: 3.9 nTPM
  • thyroid gland: 3.9 nTPM
  • duodenum: 3.8 nTPM

Single-cell type

  • tuft cells: 611 nCPM
  • myonuclei: 102 nCPM
  • neutrophils: 85 nCPM
  • adrenal cortex cells: 70 nCPM
  • retinal bipolar cells: 70 nCPM
  • retinal amacrine cells: 61 nCPM

Immune cell

  • neutrophil: 2 nTPM
  • eosinophil: 0.4 nTPM
  • memory CD4 T-cell: 0.3 nTPM
  • naive B-cell: 0.3 nTPM
  • classical monocyte: 0.2 nTPM
  • naive CD4 T-cell: 0.2 nTPM

Brain region

  • cerebellum: 9.3 nTPM
  • basal ganglia: 5.6 nTPM
  • thalamus: 4.9 nTPM
  • cerebral cortex: 4.7 nTPM
  • choroid plexus: 4.6 nTPM
  • hippocampal formation: 4.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AVIL.

Disease | AllUniProt

Conditions AVIL is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 205 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)
0.78
gnomAD pLI
0
gnomAD missense Z
0.47
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 AVIL 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 AVIL as an antibody target. Whether an autoantibody or antibody against AVIL could matter depends on whether native AVIL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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