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Ask your administrator if you think this is wrong. ======= ACTA1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ACTA1 * **<color #00a2e8>Official Name</color>**: actin alpha 1, skeletal muscle * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=58|58]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P68133|P68133]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ACTA1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACTA1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/102610|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]. * **<color #00a2e8>UniProt Summary</color>**: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Actin| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |skeletal muscle fiber adaptation| |mesenchyme migration| |skeletal muscle adaptation| |skeletal muscle thin filament assembly| |skeletal myofibril assembly| |striated muscle thin filament| |response to lithium ion| |myosin binding| |skeletal muscle fiber development| |myotube cell development| |striated muscle adaptation| |muscle adaptation| |muscle filament sliding| |ADP binding| |actin-myosin filament sliding| |sarcomere| |mesenchyme morphogenesis| |myotube differentiation| |muscle fiber development| |myofibril assembly| |stress fiber| |cell body| |filopodium| |actin filament| |actin-mediated cell contraction| |tissue migration| |structural constituent of cytoskeleton| |cellular component assembly involved in morphogenesis| |actin filament-based movement| |actomyosin structure organization| |skeletal muscle tissue development| |skeletal muscle organ development| |striated muscle cell development| |blood microparticle| |muscle cell development| |lamellipodium| |striated muscle cell differentiation| |response to mechanical stimulus| |actin cytoskeleton| |mesenchyme development| |actin filament organization| |muscle cell differentiation| |muscle contraction| |striated muscle tissue development| |muscle organ development| |muscle tissue development| |muscle system process| |response to steroid hormone| |response to metal ion| |supramolecular fiber organization| |muscle structure development| |actin cytoskeleton organization| |response to extracellular stimulus| |response to inorganic substance| |tissue morphogenesis| |actin filament-based process| |cellular response to organonitrogen compound| |cellular response to nitrogen compound| |organelle assembly| |cellular component morphogenesis| |response to lipid| |anatomical structure formation involved in morphogenesis| |response to hormone| |response to organic cyclic compound| |animal organ morphogenesis| |response to organonitrogen compound| |response to nitrogen compound| |cytoskeleton organization| |response to abiotic stimulus| |cellular response to endogenous stimulus| |response to endogenous stimulus| |ATP binding| |movement of cell or subcellular component| |extracellular space| |cell development| |tissue development| |system process| |positive regulation of gene expression| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp38|Wortmannin 5μM R00 exp38]]|1.71| |[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|1.9| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 9689 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.67 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ACTA1 Expression in NALM6 Cells: 2.67'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1