Actin, alpha skeletal muscle

ACTA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1T44
Identifiers
Aliases	ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, Actin, alpha 1, SHPM, actin, alpha 1, skeletal muscle, actin alpha 1, skeletal muscle
External IDs	OMIM: 102610; MGI: 87902; HomoloGene: 121702; GeneCards: ACTA1; OMA:ACTA1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.13 Start 229,430,365 bp[1] End 229,434,104 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 E2|8 72.26 cM Start 124,618,508 bp[2] End 124,621,490 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii glutes triceps brachii muscle Skeletal muscle tissue of rectus abdominis thoracic diaphragm tibialis anterior muscle muscle of thigh gastrocnemius muscle body of tongue deltoid muscle Top expressed in ankle soleus muscle plantaris muscle medial head of gastrocnemius muscle intercostal muscle muscle of thigh body of femur digastric muscle temporal muscle vastus lateralis muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding myosin binding ADP binding structural constituent of cytoskeleton protein binding ATP binding Cellular component cytoplasm cell body cytosol blood microparticle filopodium sarcomere striated muscle thin filament stress fiber extracellular fluid actin filament actin cytoskeleton extracellular exosome cytoskeleton lamellipodium Biological process muscle contraction response to steroid hormone skeletal muscle fiber adaptation response to mechanical stimulus skeletal muscle thin filament assembly response to lithium ion cell growth positive regulation of gene expression muscle filament sliding mesenchyme migration response to extracellular stimulus skeletal muscle fiber development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 58 11459 Ensembl ENSG00000143632 ENSMUSG00000031972 UniProt P68133 P68134 RefSeq (mRNA) NM_001100 NM_001272041 NM_009606 RefSeq (protein) NP_001091 NP_001258970 NP_033736 Location (UCSC) Chr 1: 229.43 – 229.43 Mb Chr 8: 124.62 – 124.62 Mb PubMed search [3] [4]
Wikidata
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Actin, alpha skeletal muscle is a protein that in humans is encoded by the ACTA1 gene.^[5][6]

Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.^[7]

Skeletal actin gene expression

Skeletal alpha actin expression is induced by stimuli and conditions known to cause muscle formation.^[8] Such conditions result in fusion of committed cells (satellite cells) into myotubes, to form muscle fibers. Skeletal actin itself, when expressed, causes expression of several other "myogenic genes", which are essential to muscle formation.^[9] One key transcription factor that activates skeletal actin gene expression is Serum Response Factor ("SRF"), a protein that binds to specific sites on the promoter DNA of the actin gene.^[10] SRF may bring a number of other proteins to the promoter of skeletal actin, such as androgen receptor, and thereby contribute to induction of skeletal actin gene expression by androgenic (often termed "anabolic") steroids.^[11]

Interactions

Actin, alpha 1 has been shown to interact with TMSB4X,^[12][13] MIB2^[14] and PRKCE.^[15]

Clinical significance

Mutations in the ACTA1 gene are known to cause the following conditions:^[16]

• Nemaline myopathy 3 (NEM3);
• Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM);
• Myopathy, congenital, with fiber-type disproportion (CFTD);
• Myopathy, scapulohumeroperoneal (SHPM).

See also

• Actin
• ACTB

References

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy
• Human ACTA1 genome location and ACTA1 gene details page in the UCSC Genome Browser.