Seroatlas · Human Serome Atlas

ACTN3

Alpha-actinin-3

Also known as: ACTN3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q08043
Gene
ACTN3
Ensembl
ENSG00000248746
Chromosome
11
Canonical length
901 aa
Protein class
Plasma proteins, Predicted intracellular proteins
Subcellular location
Actin filaments,Focal adhesion sites,Primary cilium,Primary cilium transition zone,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]

Canonical amino-acid sequenceUniProt

901 residues, UniProt reviewed canonical sequence.

>Q08043|ACTN3
     1  MMMVMQPEGL GAGEGRFAGG GGGGEYMEQE EDWDRDLLLD PAWEKQQRKT FTAWCNSHLR
    61  KAGTQIENIE EDFRNGLKLM LLLEVISGER LPRPDKGKMR FHKIANVNKA LDFIASKGVK
   121  LVSIGAEEIV DGNLKMTLGM IWTIILRFAI QDISVEETSA KEGLLLWCQR KTAPYRNVNV
   181  QNFHTSWKDG LALCALIHRH RPDLIDYAKL RKDDPIGNLN TAFEVAEKYL DIPKMLDAED
   241  IVNTPKPDEK AIMTYVSCFY HAFAGAEQAE TAANRICKVL AVNQENEKLM EEYEKLASEL
   301  LEWIRRTVPW LENRVGEPSM SAMQRKLEDF RDYRRLHKPP RIQEKCQLEI NFNTLQTKLR
   361  LSHRPAFMPS EGKLVSDIAN AWRGLEQVEK GYEDWLLSEI RRLQRLQHLA EKFRQKASLH
   421  EAWTRGKEEM LSQRDYDSAL LQEVRALLRR HEAFESDLAA HQDRVEHIAA LAQELNELDY
   481  HEAASVNSRC QAICDQWDNL GTLTQKRRDA LERMEKLLET IDRLQLEFAR RAAPFNNWLD
   541  GAVEDLQDVW LVHSVEETQS LLTAHDQFKA TLPEADRERG AIMGIQGEIQ KICQTYGLRP
   601  CSTNPYITLS PQDINTKWDM VRKLVPSCDQ TLQEELARQQ VNERLRRQFA AQANAIGPWI
   661  QAKVEEVGRL AAGLAGSLEE QMAGLRQQEQ NIINYKTNID RLEGDHQLLQ ESLVFDNKHT
   721  VYSMEHIRVG WEQLLTSIAR TINEVENQVL TRDAKGLSQE QLNEFRASFN HFDRKQNGMM
   781  EPDDFRACLI SMGYDLGEVE FARIMTMVDP NAAGVVTFQA FIDFMTRETA ETDTTEQVVA
   841  SFKILAGDKN YITPEELRRE LPAKQAEYCI RRMVPYKGSG APAGALDYVA FSSALYGESD
   901  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTN3 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)
0.29
Highest tissue expression
1,567 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 1,567 nTPM
  • tongue: 22 nTPM
  • testis: 3.9 nTPM
  • esophagus: 1.1 nTPM
  • prostate: 0.4 nTPM
  • salivary gland: 0.4 nTPM

Single-cell type

  • myonuclei: 46 nCPM
  • late spermatids: 30 nCPM
  • early spermatids: 6 nCPM
  • late primary spermatocytes: 5.6 nCPM
  • epididymal basal cells: 4.2 nCPM
  • granulosa cells: 3.2 nCPM

Immune cell

  • memory CD8 T-cell: 0.1 nTPM
  • naive CD8 T-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • cerebellum: 3 nTPM
  • white matter: 1.8 nTPM
  • cerebral cortex: 1.5 nTPM
  • basal ganglia: 1.2 nTPM
  • pons: 1.2 nTPM
  • amygdala: 1.1 nTPM

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 ACTN3 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 ACTN3 as an antibody target. Whether an autoantibody or antibody against ACTN3 could matter depends on whether native ACTN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACTN3 is annotated at the cell surface, where native ACTN3 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 ACTN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACTN3. 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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