full name
actin, alpha 1, skeletal muscle
synonyms
ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, ACTA1, ENSG00000143632
HGNC
HGNC:129
Entrez Gene
Gene:58
ENSEMBL
ENSG00000143632
location
chr: 1
start: 229566992
stop: 229569858
strand: -
OMIM
OMIM:102610:
ACTA1
OMIM:616852:
?Myopathy, scapulohumeroperoneal
OMIM:161800:
Myopathy, actin, congenital, with cores
OMIM:161800:
Myopathy, actin, congenital, with excess of thin myofilaments
OMIM:255310:
Myopathy, congenital, with fiber-type disproportion 1
OMIM:161800:
Nemaline myopathy 3, autosomal dominant or recessive
transcripts
NM_001100.3
pathways
Caspase cascade in apoptosis
[NCBI:137974]
[Pathway Interaction Database:caspase_pathway]
[PUBMED:7774019]
[PUBMED:8626669]
[PUBMED:9850096]
[PUBMED:11803376]
[PUBMED:15189451]
[PUBMED:10564664]
[PUBMED:9642276]
[PUBMED:10567584]
[PUBMED:12419244]
[PUBMED:11423904]
[PUBMED:9422506]
[PUBMED:11438643]
[PUBMED:9070648]
[PUBMED:9588194]
[PUBMED:11085743]
[PUBMED:9298992]
[PUBMED:9933635]
[PUBMED:9528810]
[PUBMED:9323209]
[PUBMED:10809769]
[PUBMED:8700869]
[PUBMED:9463409]
[PUBMED:10497198]
[PUBMED:11953316]
[PUBMED:9422513]
[PUBMED:10409650]
[PUBMED:11463840]
[PUBMED:10611247]
[PUBMED:8605870]
RhoA signaling pathway
[NCBI:169356]
[Pathway Interaction Database:rhoa_pathway]
[PUBMED:8641286]
[PUBMED:16705166]
[PUBMED:9510209]
[PUBMED:18267089]
[PUBMED:15866170]
[PUBMED:18303050]
[PUBMED:17588931]
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[PUBMED:11238375]
[PUBMED:18559669]
[PUBMED:18025109]
[PUBMED:16427251]
[PUBMED:11122380]
[PUBMED:8632828]
[PUBMED:15866889]
[PUBMED:9707430]
[PUBMED:9456324]
[PUBMED:8662509]
[PUBMED:12429848]
[PUBMED:9294169]
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[PUBMED:9582304]
[PUBMED:15170389]
[PUBMED:10744700]
[PUBMED:10893221]
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[PUBMED:9121475]
[PUBMED:8858161]
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[PUBMED:19625450]
[PUBMED:15068801]
[PUBMED:11278519]
[PUBMED:12732141]
[PUBMED:9529607]
[PUBMED:12600823]
[PUBMED:9697773]
[PUBMED:10085083]
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[PUBMED:7600583]
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[PUBMED:12899698]
[PUBMED:8702756]
[PUBMED:10556088]
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[PUBMED:9670022]
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[PUBMED:14595335]
[PUBMED:10436006]
[PUBMED:9482732]
[PUBMED:11342553]
[PUBMED:9351440]
Signaling events mediated by focal adhesion kinase
[NCBI:169348]
[Pathway Interaction Database:fak_pathway]
[PUBMED:18793427]
[PUBMED:15340073]
[PUBMED:16054026]
[PUBMED:12932330]
[PUBMED:20038548]
[PUBMED:7542255]
[PUBMED:8939916]
[PUBMED:16000375]
[PUBMED:10856236]
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[PUBMED:9148935]
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[PUBMED:10512882]
[PUBMED:11839772]
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[PUBMED:7566154]
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[PUBMED:11739801]
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[PUBMED:12876277]