alpha-actin-1; actin, alpha skeletal muscle (ACTA1, ACTA)

Function

• alpha actin with role in muscle contraction
• interacts with TTID
• interacts (via its C-terminus) with USP25
• interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells

Structure

belongs to the actin family

Compartment

cytoplasm, cytoskeleton

Pathology

• defects in ACTA1 are the cause of nemaline myopathy type 3
• defects in ACTA1 are a cause of:
  • congenital myopathy with excess of thin myofilaments
  • congenital myopathy with fiber-type disproportion

More general terms

• alpha actin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=58
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:58; -.
• OMIM: https://mirror.omim.org/entry/102610
• OMIM: https://mirror.omim.org/entry/161800
• OMIM: https://mirror.omim.org/entry/255310
• UniProt: http://www.uniprot.org/uniprot/P68133.html