ACTN3

ACTN3

Identifiers Symbols ACTN3; MGC117002; MGC117005 External IDs OMIM: 102574 MGI: 99678 HomoloGene: 862 GeneCards: ACTN3 Gene

Gene Ontology
Molecular function	• actin binding • integrin binding • calcium ion binding • protein binding • structural constituent of muscle • protein homodimerization activity
Cellular component	• cytosol • actin filament • focal adhesion • pseudopodium
Biological process	• muscle filament sliding • regulation of apoptotic process • focal adhesion assembly • actin filament bundle assembly • actin crosslink formation
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 89 11474 Ensembl ENSG00000248746 ENSMUSG00000006457 UniProt Q08043 O88990 RefSeq (mRNA) NM_001104 NM_013456.1 RefSeq (protein) NP_001095 NP_038484.1 Location (UCSC) Chr 11:
66.31 – 66.33 Mb Chr 19:
4.86 – 4.88 Mb PubMed search

Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein, is a protein that in humans is encoded by the ACTN3 gene.

Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments.