Seroatlas · Human Serome Atlas

ACTC1

Actin, alpha cardiac muscle 1

Also known as: ACTC, ACTC_HUMAN, CMD1R

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

Protein identityUniProt · HPA

UniProt accession
P68032
Gene
ACTC1
Ensembl
ENSG00000159251
Chromosome
15
Canonical length
377 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. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

377 residues, UniProt reviewed canonical sequence.

>P68032|ACTC1
     1  MCDDEETTAL 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  LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS
   361  KQEYDEAGPS IVHRKCF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTC1 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
10,840 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 10,840 nTPM
  • urinary bladder: 667 nTPM
  • skeletal muscle: 520 nTPM
  • seminal vesicle: 507 nTPM
  • blood vessel: 389 nTPM
  • tongue: 182 nTPM

Single-cell type

  • smooth muscle cells: 644 nCPM
  • thymic myoid cells: 552 nCPM
  • cardiomyocytes: 412 nCPM
  • epicardial cells: 66 nCPM
  • vascular smooth muscle cells: 39 nCPM
  • cone photoreceptor cells: 33 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

  • hypothalamus: 6.7 nTPM
  • pons: 4.8 nTPM
  • midbrain: 4.5 nTPM
  • medulla oblongata: 4 nTPM
  • thalamus: 3 nTPM
  • cerebral cortex: 2.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTC1.

Disease | AllUniProt

Conditions ACTC1 is implicated in, by any mechanism.

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 883 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on ACTC1 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)
0.48
gnomAD pLI
0.74
gnomAD missense Z
4.52
DepMap mean gene effect
-0.01
DepMap dependency class
selective

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 ACTC1 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 ACTC1 as an antibody target. Whether an autoantibody or antibody against ACTC1 could matter depends on whether native ACTC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTC1 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 ACTC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTC1. 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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