Seroatlas · Human Serome Atlas

ACTB

Actin, cytoplasmic 1

Also known as: ACTB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P60709
Gene
ACTB
Ensembl
ENSG00000075624
Chromosome
7
Canonical length
375 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

375 residues, UniProt reviewed canonical sequence.

>P60709|ACTB
     1  MDDDIAALVV 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 ACTB 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
8,353 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 8,353 nTPM
  • colon: 7,819 nTPM
  • smooth muscle: 5,356 nTPM
  • endometrium: 5,204 nTPM
  • tonsil: 4,310 nTPM
  • urinary bladder: 4,144 nTPM

Single-cell type

  • megakaryocytes: 22,056 nCPM
  • platelets: 18,691 nCPM
  • extravillous trophoblasts: 16,962 nCPM
  • esophageal apical cells: 15,922 nCPM
  • hofbauer cells: 15,052 nCPM
  • neutrophils: 11,009 nCPM

Immune cell

  • total PBMC: 37,458 nTPM
  • eosinophil: 29,722 nTPM
  • non-classical monocyte: 22,992 nTPM
  • intermediate monocyte: 19,675 nTPM
  • myeloid DC: 19,334 nTPM
  • classical monocyte: 18,132 nTPM

Brain region

  • white matter: 3,695 nTPM
  • medulla oblongata: 2,928 nTPM
  • thalamus: 2,595 nTPM
  • spinal cord: 2,482 nTPM
  • pons: 2,383 nTPM
  • cerebellum: 2,314 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTB.

Disease | AllUniProt

Conditions ACTB is implicated in, by any mechanism.

  • Dystonia-deafness syndrome 1 (DDS1) MIM:607371
  • Baraitser-Winter syndrome 1 (BRWS1) MIM:243310
  • Thrombocytopenia 8, with dysmorphic features and developmental delay (THC8) MIM:620475
  • Becker nevus syndrome (BNS) MIM:604919
  • Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) MIM:620470

Disease | GeneticClinVar

138 pathogenic / likely-pathogenic of 679 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Baraitser-Winter syndrome 1
  • Inborn genetic diseases
  • ACTB-related disorder
  • Developmental malformations-deafness-dystonia syndrome
  • ACTB-associated syndromic thrombocytopenia

Disease | ImmuneIEDB

Conditions an epitope on ACTB 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)
0.23
gnomAD pLI
0.99
gnomAD missense Z
5.02
DepMap mean gene effect
-0.63
DepMap dependency class
common

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

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

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