full name
actinin alpha 1

synonyms
BDPLT15, ACTN1, ENSG00000072110

HGNC
HGNC:163

Entrez Gene
Gene:87

ENSEMBL
ENSG00000072110

location
chr: 14
start: 69340840
stop: 69446083
strand: -

OMIM
OMIM:102575: ACTN1 (Autosomal dominant inheritance)
OMIM:615193: Bleeding disorder, platelet-type, 15

transcripts
NM_001130005.1
NM_001102.3
NM_001130004.1

pathways
Adherens junction [NCBI:83070] [KEGG:hsa04520] [PUBMED:11703922] [PUBMED:10890911] [PUBMED:15551862] [PUBMED:15561584] [PUBMED:10959047] [PUBMED:11984870] [PUBMED:10204118] [PUBMED:15489912] [PUBMED:14623871] [PUBMED:15001769] [PUBMED:12640114] [PUBMED:12665527] [PUBMED:11171368]
Amoebiasis [NCBI:167324] [KEGG:hsa05146] [PUBMED:9832261] [PUBMED:16380324] [PUBMED:14700586] [PUBMED:18725798] [PUBMED:12142490] [PUBMED:10637584] [PUBMED:20145703] [PUBMED:11378035] [PUBMED:12160867] [PUBMED:15813717] [PUBMED:19207103] [PUBMED:12660071] [PUBMED:20303955] [PUBMED:11352795] [PUBMED:14502002] [PUBMED:10756002] [PUBMED:17702556] [PUBMED:17576362]
Cell junction organization [NCBI:1270232] [REACTOME:R-HSA-446728]
Cell-Cell communication [NCBI:1270231] [REACTOME:R-HSA-1500931] [PUBMED:20554646] [PUBMED:12598678] [PUBMED:17766183] [PUBMED:18837673] [PUBMED:16691243] [PUBMED:1616050]
Cell-extracellular matrix interactions [NCBI:1270237] [REACTOME:R-HSA-446353] [PUBMED:15246679]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:14756624] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15179030] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:15034601] [PUBMED:12235283] [PUBMED:14519391] [PUBMED:11146675] [PUBMED:11229600] [PUBMED:15688067] [PUBMED:14744429] [PUBMED:11882383]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Leukocyte transendothelial migration [NCBI:83083] [KEGG:hsa04670] [PUBMED:15629883] [PUBMED:10975856] [PUBMED:14976004] [PUBMED:15265790] [PUBMED:15173832] [PUBMED:12540948] [PUBMED:15771581] [PUBMED:15604886] [PUBMED:14977592]
Nephrin interactions [NCBI:1270243] [REACTOME:R-HSA-373753] [PUBMED:12832477] [PUBMED:15821412] [PUBMED:16571882] [PUBMED:17766183] [PUBMED:10541305] [PUBMED:19649571] [PUBMED:10393930] [PUBMED:15994232]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
Platelet activation, signaling and aggregation [NCBI:1269350] [REACTOME:R-HSA-76002] [PUBMED:16543958] [PUBMED:8704248] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:17059469] [PUBMED:12681240] [PUBMED:12411949] [PUBMED:11511514]
Platelet degranulation [NCBI:1269367] [REACTOME:R-HSA-114608] [PUBMED:14630798]
Regulation of actin cytoskeleton [NCBI:83089] [KEGG:hsa04810] [PUBMED:11152757] [PUBMED:11082272] [PUBMED:10574699] [PUBMED:11082269] [PUBMED:14657486] [PUBMED:14744429] [PUBMED:12700767]
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components [NCBI:1270239] [REACTOME:R-HSA-446388] [PUBMED:15246679]
Response to elevated platelet cytosolic Ca2+ [NCBI:1269365] [REACTOME:R-HSA-76005] [PUBMED:8424766]
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]
Stabilization and expansion of the E-cadherin adherens junction [NCBI:137918] [Pathway Interaction Database:ecadherin_stabilization_pathway] [PUBMED:15057284] [PUBMED:10769210] [PUBMED:17261850] [PUBMED:18413140] [PUBMED:14704278] [PUBMED:19041755] [PUBMED:18690644] [PUBMED:16030252] [PUBMED:16537539] [PUBMED:19193766] [PUBMED:11381089] [PUBMED:16613855] [PUBMED:7962096] [PUBMED:17940061] [PUBMED:10511313] [PUBMED:8660958] [PUBMED:7790378] [PUBMED:18093941] [PUBMED:14709721] [PUBMED:17761530] [PUBMED:16371509] [PUBMED:11024053] [PUBMED:19158278] [PUBMED:9182672] [PUBMED:10085258] [PUBMED:10660044] [PUBMED:17646397] [PUBMED:10980705] [PUBMED:9566974] [PUBMED:11056534] [PUBMED:17664339] [PUBMED:17635938]
Syndecan interactions [NCBI:1270255] [REACTOME:R-HSA-3000170] [PUBMED:17097330] [PUBMED:15774861] [PUBMED:20565253]
Syndecan-4-mediated signaling events [NCBI:138064] [Pathway Interaction Database:syndecan_4_pathway] [PUBMED:16604063] [PUBMED:8621465] [PUBMED:17485492] [PUBMED:10633082] [PUBMED:14580209] [PUBMED:14670076] [PUBMED:16357320] [PUBMED:11373281] [PUBMED:11805099] [PUBMED:12087088] [PUBMED:16087677] [PUBMED:8589452] [PUBMED:17901052] [PUBMED:12571249] [PUBMED:16310216] [PUBMED:15694365] [PUBMED:17130131] [PUBMED:17879962] [PUBMED:8609172] [PUBMED:12493766] [PUBMED:10640397] [PUBMED:15819887] [PUBMED:10625452] [PUBMED:9582338] [PUBMED:14637022] [PUBMED:12509413] [PUBMED:16141413] [PUBMED:10734086] [PUBMED:10911369]
Systemic lupus erythematosus [NCBI:83122] [KEGG:hsa05322] [PUBMED:12835292] [PUBMED:12965173] [PUBMED:16932712] [PUBMED:10025913] [PUBMED:15972354] [PUBMED:17943287] [PUBMED:10430616] [PUBMED:18305268] [PUBMED:15380523] [PUBMED:8048228] [PUBMED:15459673]
Tight junction [NCBI:83071] [KEGG:hsa04530] [PUBMED:25152334] [PUBMED:16650994] [PUBMED:22892070] [PUBMED:18946474] [PUBMED:12042308] [PUBMED:23885123] [PUBMED:16771626] [PUBMED:17182900] [PUBMED:21283798] [PUBMED:25757376] [PUBMED:22928510] [PUBMED:22169974] [PUBMED:25469537] [PUBMED:24651541] [PUBMED:15820555] [PUBMED:17525755] [PUBMED:27353478] [PUBMED:17950242] [PUBMED:18005931] [PUBMED:24548561] [PUBMED:21781017] [PUBMED:20094051] [PUBMED:20134025] [PUBMED:22896795] [PUBMED:18094055] [PUBMED:25483301]
Viral carcinogenesis [NCBI:658418] [KEGG:hsa05203] [PUBMED:9990017] [PUBMED:15173177] [PUBMED:16036567] [PUBMED:16581947] [PUBMED:9060639] [PUBMED:17457345] [PUBMED:15956361] [PUBMED:21421561] [PUBMED:18391203] [PUBMED:21040832] [PUBMED:9837909] [PUBMED:17645777] [PUBMED:15967719] [PUBMED:12686421] [PUBMED:17049016] [PUBMED:21152115] [PUBMED:11160754] [PUBMED:21966251] [PUBMED:17979705] [PUBMED:8617242] [PUBMED:12925958] [PUBMED:10873631] [PUBMED:21250384] [PUBMED:15614436] [PUBMED:10354594] [PUBMED:20494113] [PUBMED:18702816] [PUBMED:9651361] [PUBMED:16459163] [PUBMED:11278402] [PUBMED:15510157] [PUBMED:19956178] [PUBMED:18251977] [PUBMED:11766888] [PUBMED:10824878] [PUBMED:21372216] [PUBMED:11244044] [PUBMED:17894800] [PUBMED:11905817] [PUBMED:21347341] [PUBMED:12186904] [PUBMED:9374493] [PUBMED:16352731] [PUBMED:12770701] [PUBMED:17384582] [PUBMED:14506283] [PUBMED:11091847] [PUBMED:17267064] [PUBMED:11886269] [PUBMED:21177815] [PUBMED:10400746] [PUBMED:19156753] [PUBMED:9882379] [PUBMED:14559998] [PUBMED:15767449] [PUBMED:22110506] [PUBMED:20534855] [PUBMED:15542638] [PUBMED:9343405] [PUBMED:10405893] [PUBMED:19400863] [PUBMED:9349482] [PUBMED:14747563] [PUBMED:21647825] [PUBMED:12970441] [PUBMED:11669605] [PUBMED:15795286] [PUBMED:21994562] [PUBMED:14530271] [PUBMED:9594662] [PUBMED:22566809] [PUBMED:19651473] [PUBMED:8756622] [PUBMED:15105524] [PUBMED:15452270] [PUBMED:18948197] [PUBMED:16760382] [PUBMED:10793105] [PUBMED:21084867] [PUBMED:16308315] [PUBMED:16155604] [PUBMED:16381817] [PUBMED:16828973] [PUBMED:15342967] [PUBMED:15692053] [PUBMED:10855768] [PUBMED:19078975] [PUBMED:12379483] [PUBMED:15310405] [PUBMED:8223437] [PUBMED:16939421] [PUBMED:12910250] [PUBMED:16039586] [PUBMED:18201576] [PUBMED:21102637] [PUBMED:21743832] [PUBMED:20592731] [PUBMED:10644344] [PUBMED:10074132] [PUBMED:19715458] [PUBMED:16155601] [PUBMED:11604508] [PUBMED:15919895] [PUBMED:11099494] [PUBMED:18385245] [PUBMED:19854353] [PUBMED:12101418]