Seroatlas · Human Serome Atlas

ACTA1

Actin, alpha skeletal muscle

Also known as: ACTA, ACTS_HUMAN, NEM3

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

Protein identityUniProt · HPA

UniProt accession
P68133
Gene
ACTA1
Ensembl
ENSG00000143632
Chromosome
1
Canonical length
377 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

Canonical amino-acid sequenceUniProt

377 residues, UniProt reviewed canonical sequence.

>P68133|ACTA1
     1  MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
    61  QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK
   121  MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
   181  DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
   241  SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
   301  MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIT
   361  KQEYDEAGPS IVHRKCF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTA1 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)
0.24
Highest tissue expression
123,974 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 123,974 nTPM
  • tongue: 19,458 nTPM
  • heart muscle: 6,224 nTPM
  • esophagus: 569 nTPM
  • salivary gland: 553 nTPM
  • prostate: 153 nTPM

Single-cell type

  • myonuclei: 1,144 nCPM
  • thymic myoid cells: 379 nCPM
  • smooth muscle cells: 278 nCPM
  • myosatellite cells: 137 nCPM
  • fibro-adipogenic progenitors: 121 nCPM
  • cardiomyocytes: 89 nCPM

Immune cell

  • total PBMC: 34 nTPM
  • eosinophil: 25 nTPM
  • intermediate monocyte: 19 nTPM
  • non-classical monocyte: 18 nTPM
  • myeloid DC: 18 nTPM
  • neutrophil: 14 nTPM

Brain region

  • hypothalamus: 6.8 nTPM
  • cerebral cortex: 5.5 nTPM
  • cerebellum: 3.5 nTPM
  • amygdala: 2.4 nTPM
  • thalamus: 2.4 nTPM
  • basal ganglia: 2.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTA1.

Disease | AllUniProt

Conditions ACTA1 is implicated in, by any mechanism.

  • Congenital myopathy 2A, typical, autosomal dominant (CMYO2A) MIM:161800
  • Congenital myopathy 2B, severe infantile, autosomal recessive (CMYO2B) MIM:620265
  • Congenital myopathy 2C, severe infantile, autosomal dominant (CMYO2C) MIM:620278
  • Myopathy, scapulohumeroperoneal (SHPM) MIM:616852

Disease | GeneticClinVar

236 pathogenic / likely-pathogenic of 628 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Actin accumulation myopathy
  • Alpha-actinopathy
  • Congenital myopathy 2c, severe infantile, autosomal dominant
  • Progressive scapulohumeroperoneal distal myopathy
  • ACTA1-related disorder

Disease | ImmuneIEDB

Conditions an epitope on ACTA1 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)
1.22
gnomAD pLI
0
gnomAD missense Z
4.53
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 ACTA1 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 ACTA1 as an antibody target. Whether an autoantibody or antibody against ACTA1 could matter depends on whether native ACTA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTA1 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 ACTA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTA1. 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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