Seroatlas · Human Serome Atlas

ACTG1

Actin, cytoplasmic 2

Also known as: ACTG, ACTG_HUMAN, DFNA20, DFNA26

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

Protein identityUniProt · HPA

UniProt accession
P63261
Gene
ACTG1
Ensembl
ENSG00000184009
Chromosome
17
Canonical length
375 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

375 residues, UniProt reviewed canonical sequence.

>P63261|ACTG1
     1  MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS
    61  KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT
   121  QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL
   181  AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY
   241  ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS
   301  GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ
   361  EYDESGPSIV HRKCF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTG1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
2,381 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 2,381 nTPM
  • ovary: 2,001 nTPM
  • pancreas: 1,883 nTPM
  • blood vessel: 1,792 nTPM
  • lymph node: 1,587 nTPM
  • adipose tissue: 1,536 nTPM

Single-cell type

  • esophageal apical cells: 15,149 nCPM
  • esophageal suprabasal cells: 7,218 nCPM
  • megakaryocytes: 5,706 nCPM
  • extravillous trophoblasts: 5,613 nCPM
  • pancreatic acinar cells: 5,232 nCPM
  • suprabasal keratinocytes: 5,030 nCPM

Immune cell

  • total PBMC: 5,302 nTPM
  • basophil: 4,260 nTPM
  • eosinophil: 3,021 nTPM
  • myeloid DC: 3,018 nTPM
  • T-reg: 2,989 nTPM
  • non-classical monocyte: 2,954 nTPM

Brain region

  • white matter: 1,100 nTPM
  • hypothalamus: 1,037 nTPM
  • medulla oblongata: 1,002 nTPM
  • pons: 942 nTPM
  • thalamus: 928 nTPM
  • spinal cord: 858 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTG1.

Disease | AllUniProt

Conditions ACTG1 is implicated in, by any mechanism.

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 722 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on ACTG1 was assayed in.

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)
0.86
gnomAD pLI
0
gnomAD missense Z
3.16
DepMap mean gene effect
-0.72
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 ACTG1 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 ACTG1 as an antibody target. Whether an autoantibody or antibody against ACTG1 could matter depends on whether native ACTG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTG1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ACTG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTG1. 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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