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] [PUBMED:18941185] [PUBMED:16164598] [PUBMED:11238375] [PUBMED:18559669] [PUBMED:18025109] [PUBMED:16427251] [PUBMED:11122380] [PUBMED:8632828] [PUBMED:15866889] [PUBMED:9707430] [PUBMED:9456324] [PUBMED:8662509] [PUBMED:12429848] [PUBMED:9294169] [PUBMED:9042860] [PUBMED:9582304] [PUBMED:15170389] [PUBMED:10744700] [PUBMED:10893221] [PUBMED:14681219] [PUBMED:9121475] [PUBMED:8858161] [PUBMED:18309323] [PUBMED:9710582] [PUBMED:9265657] [PUBMED:19625450] [PUBMED:15068801] [PUBMED:11278519] [PUBMED:12732141] [PUBMED:9529607] [PUBMED:12600823] [PUBMED:9697773] [PUBMED:10085083] [PUBMED:12802051] [PUBMED:11018042] [PUBMED:7600583] [PUBMED:9693382] [PUBMED:12899698] [PUBMED:8702756] [PUBMED:10556088] [PUBMED:10037681] [PUBMED:1643657] [PUBMED:12034774] [PUBMED:9670022] [PUBMED:12574166] [PUBMED:12584113] [PUBMED:11877391] [PUBMED:9920882] [PUBMED:8995216] [PUBMED:7929302] [PUBMED:10428028] [PUBMED:15793569] [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] [PUBMED:17164291] [PUBMED:9148935] [PUBMED:10893408] [PUBMED:10512882] [PUBMED:11839772] [PUBMED:11553710] [PUBMED:7566154] [PUBMED:20018869] [PUBMED:12839996] [PUBMED:11799111] [PUBMED:16308318] [PUBMED:11331870] [PUBMED:12681445] [PUBMED:11369769] [PUBMED:11739801] [PUBMED:9860979] [PUBMED:8947559] [PUBMED:11017882] [PUBMED:7509446] [PUBMED:10791986] [PUBMED:9128257] [PUBMED:19297531] [PUBMED:17325207] [PUBMED:17093062] [PUBMED:10593973] [PUBMED:20308429] [PUBMED:8922390] [PUBMED:19776348] [PUBMED:9374537] [PUBMED:10976102] [PUBMED:10373530] [PUBMED:19883375] [PUBMED:10430888] [PUBMED:12820964] [PUBMED:9425168] [PUBMED:14743221] [PUBMED:18854312] [PUBMED:12952943] [PUBMED:15962308] [PUBMED:11927607] [PUBMED:15657076] [PUBMED:15039571] [PUBMED:18303050] [PUBMED:11799401] [PUBMED:15247219] [PUBMED:12702722] [PUBMED:10998418] [PUBMED:7615549] [PUBMED:18195107] [PUBMED:9032297] [PUBMED:10873807] [PUBMED:10777511] [PUBMED:12502711] [PUBMED:9566877] [PUBMED:8649427] [PUBMED:19473962] [PUBMED:9808620] [PUBMED:15914540] [PUBMED:1385445] [PUBMED:18223254] [PUBMED:11909938] [PUBMED:15166238] [PUBMED:7622520] [PUBMED:8824286] [PUBMED:8662921] [PUBMED:8707856] [PUBMED:10330411] [PUBMED:10446223] [PUBMED:20150423] [PUBMED:11604500] [PUBMED:9234699] [PUBMED:18773890] [PUBMED:18757826] [PUBMED:9864370] [PUBMED:7983066] [PUBMED:18322799] [PUBMED:12006652] [PUBMED:16461767] [PUBMED:10385525] [PUBMED:14676198] [PUBMED:9858476] [PUBMED:18070912] [PUBMED:11058585] [PUBMED:12890755] [PUBMED:9184223] [PUBMED:12058076] [PUBMED:12226752] [PUBMED:19435801] [PUBMED:10212207] [PUBMED:10521463] [PUBMED:16159962] [PUBMED:7579684] [PUBMED:18362184] [PUBMED:7997267] [PUBMED:8816475] [PUBMED:11279163] [PUBMED:7537852] [PUBMED:11418135] [PUBMED:12167697] [PUBMED:12615911] [PUBMED:12876277]