full name
spectrin alpha, non-erythrocytic 1

synonyms
EIEE5, NEAS, SPTA2, SPTAN1, ENSG00000197694

HGNC
HGNC:11273

Entrez Gene
Gene:6709

ENSEMBL
ENSG00000197694

location
chr: 9
start: 131314837
stop: 131395944
strand: +

OMIM
OMIM:182810: SPTAN1 (Autosomal dominant inheritance)
OMIM:613477: Epileptic encephalopathy, early infantile, 5

transcripts
ENST00000372739.3
ENST00000372731.4
ENST00000358161.5

pathways
ARMS-mediated activation [NCBI:1269471] [REACTOME:R-HSA-170984] [PUBMED:9069267]
Apoptosis [NCBI:83060] [KEGG:hsa04210] [NCBI:1270262] [REACTOME:R-HSA-109581] [PUBMED:12189384] [PUBMED:20533903] [PUBMED:18208375] [PUBMED:22429822] [PUBMED:15218528] [PUBMED:24769728] [PUBMED:18023214] [PUBMED:25526085] [PUBMED:23070002] [PUBMED:15654015] [PUBMED:15601572] [PUBMED:14561771] [PUBMED:24278747] [PUBMED:21914490] [PUBMED:22465226] [PUBMED:21145844] [PUBMED:12838338] [PUBMED:18238895] [PUBMED:12949498] [PUBMED:18304445] [PUBMED:14737178] [PUBMED:26231733] [PUBMED:9916983] [PUBMED:14634621] [PUBMED:19770840] [PUBMED:22075987] [PUBMED:4561027] [PUBMED:20075940] [PUBMED:9894605] [PUBMED:26615431] [PUBMED:12505355] [PUBMED:11520933] [PUBMED:19148180] [PUBMED:16397578] [PUBMED:15719025] [PUBMED:15322527] [PUBMED:15725726] [PUBMED:12209154] [PUBMED:23803157]
Apoptotic cleavage of cellular proteins [NCBI:1270288] [REACTOME:R-HSA-111465] [PUBMED:17254298] [PUBMED:17599937] [PUBMED:12655297]
Apoptotic execution phase [NCBI:1270287] [REACTOME:R-HSA-75153] [PUBMED:12655297]
Asparagine N-linked glycosylation [NCBI:1268714] [REACTOME:R-HSA-446203] [PUBMED:16807922] [PUBMED:19647993] [PUBMED:10580125] [PUBMED:19616933] [PUBMED:20301507] [PUBMED:20301244]
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
COPI-mediated anterograde transport [NCBI:1339109] [REACTOME:R-HSA-6807878] [PUBMED:9323141] [PUBMED:15632110] [PUBMED:10825291] [PUBMED:9288971] [PUBMED:23378591] [PUBMED:8334707] [PUBMED:22013193] [PUBMED:23732476]
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]
Caspase-mediated cleavage of cytoskeletal proteins [NCBI:1270289] [REACTOME:R-HSA-264870] [PUBMED:17254298] [PUBMED:12655297] [PUBMED:17599937]
Cell-Cell communication [NCBI:1270231] [REACTOME:R-HSA-1500931] [PUBMED:20554646] [PUBMED:12598678] [PUBMED:17766183] [PUBMED:18837673] [PUBMED:16691243] [PUBMED:1616050]
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
DAP12 interactions [NCBI:1269283] [REACTOME:R-HSA-2172127] [PUBMED:19120482] [PUBMED:17220916] [PUBMED:9490415] [PUBMED:18192027] [PUBMED:15884055]
DAP12 signaling [NCBI:1269284] [REACTOME:R-HSA-2424491] [PUBMED:15884055] [PUBMED:17110943] [PUBMED:17220916]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Downstream signal transduction [NCBI:1269479] [REACTOME:R-HSA-186763] [PUBMED:10508235] [PUBMED:9739761]
ER to Golgi Anterograde Transport [NCBI:1268726] [REACTOME:R-HSA-199977] [PUBMED:11252894]
FCERI mediated MAPK activation [NCBI:1269299] [REACTOME:R-HSA-2871796] [PUBMED:19290926] [PUBMED:19909365] [PUBMED:17122878]
Fc epsilon receptor (FCERI) signaling [NCBI:1269298] [REACTOME:R-HSA-2454202] [PUBMED:15099567] [PUBMED:21799019]
Frs2-mediated activation [NCBI:1269470] [REACTOME:R-HSA-170968] [PUBMED:9069267]
GRB2 events in EGFR signaling [NCBI:1269382] [REACTOME:R-HSA-179812] [PUBMED:11706405] [PUBMED:11498013]
Gastrin-CREB signalling pathway via PKC and MAPK [NCBI:1269592] [REACTOME:R-HSA-881907] [PUBMED:10413847] [PUBMED:7491953] [PUBMED:17698287]
IGF1R signaling cascade [NCBI:1269618] [REACTOME:R-HSA-2428924] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959]
IRS-mediated signalling [NCBI:1269431] [REACTOME:R-HSA-112399]
IRS-related events triggered by IGF1R [NCBI:1269620] [REACTOME:R-HSA-2428928] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:18927274] [PUBMED:21042815] [PUBMED:20098959]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Insulin receptor signalling cascade [NCBI:1269429] [REACTOME:R-HSA-74751] [PUBMED:9677303] [PUBMED:11282018]
Interaction between L1 and Ankyrins [NCBI:1270325] [REACTOME:R-HSA-445095] [PUBMED:19356150] [PUBMED:16904324] [PUBMED:20156840] [PUBMED:18839070]
Interleukin receptor SHC signaling [NCBI:1269322] [REACTOME:R-HSA-912526] [PUBMED:8294403]
Interleukin-2 signaling [NCBI:1269321] [REACTOME:R-HSA-451927] [PUBMED:17936914] [PUBMED:18817510] [PUBMED:19543225] [PUBMED:18062768]
Interleukin-3, 5 and GM-CSF signaling [NCBI:1269323] [REACTOME:R-HSA-512988] [PUBMED:10450743] [PUBMED:9766809]
L1CAM interactions [NCBI:1270323] [REACTOME:R-HSA-373760] [PUBMED:9211984] [PUBMED:18760361] [PUBMED:14709786] [PUBMED:17189949] [PUBMED:19356150]
MAPK family signaling cascades [NCBI:1269501] [REACTOME:R-HSA-5683057] [PUBMED:21167873] [PUBMED:17161475] [PUBMED:22535895] [PUBMED:21372320]
MAPK1/MAPK3 signaling [NCBI:1269502] [REACTOME:R-HSA-5684996] [PUBMED:25378393] [PUBMED:18199641] [PUBMED:17496909] [PUBMED:21779496] [PUBMED:15520807] [PUBMED:16393692] [PUBMED:19520853] [PUBMED:17496910] [PUBMED:22569528]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
NCAM signaling for neurite out-growth [NCBI:1270312] [REACTOME:R-HSA-375165] [PUBMED:18760361] [PUBMED:12587671] [PUBMED:15662836] [PUBMED:17975827] [PUBMED:15153429] [PUBMED:12700044]
NGF signalling via TRKA from the plasma membrane [NCBI:1269460] [REACTOME:R-HSA-187037] [PUBMED:11520933] [PUBMED:12676795] [PUBMED:10851172] [PUBMED:10579918]
Nephrin interactions [NCBI:1270243] [REACTOME:R-HSA-373753] [PUBMED:12832477] [PUBMED:15821412] [PUBMED:16571882] [PUBMED:17766183] [PUBMED:10541305] [PUBMED:19649571] [PUBMED:10393930] [PUBMED:15994232]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Programmed Cell Death [NCBI:1270261] [REACTOME:R-HSA-5357801] [PUBMED:25236395]
Prolonged ERK activation events [NCBI:1269469] [REACTOME:R-HSA-169893] [PUBMED:12765839] [PUBMED:9069267]
RAF/MAP kinase cascade [NCBI:1269285] [REACTOME:R-HSA-5673001] [PUBMED:21167873] [PUBMED:24937142] [PUBMED:20674547] [PUBMED:17496910] [PUBMED:22177953] [PUBMED:17496919] [PUBMED:22569528] [PUBMED:22535895] [PUBMED:12068308] [PUBMED:17496923] [PUBMED:19091303] [PUBMED:21372320] [PUBMED:21388974] [PUBMED:15520807]
RET signaling [NCBI:1427866] [REACTOME:R-HSA-8853659] [PUBMED:15013219] [PUBMED:17036197]
SHC1 events in EGFR signaling [NCBI:1269383] [REACTOME:R-HSA-180336] [PUBMED:11498013] [PUBMED:8755247]
SOS-mediated signalling [NCBI:1269440] [REACTOME:R-HSA-112412]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by EGFR [NCBI:1269380] [REACTOME:R-HSA-177929] [PUBMED:10459005] [PUBMED:10404636] [PUBMED:12297041] [PUBMED:15142631]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
Signaling by Insulin receptor [NCBI:1269428] [REACTOME:R-HSA-74752] [PUBMED:8276779]
Signaling by Interleukins [NCBI:1269318] [REACTOME:R-HSA-449147] [PUBMED:19302047] [PUBMED:12445398]
Signaling by Leptin [NCBI:1269632] [REACTOME:R-HSA-2586552] [PUBMED:22211890] [PUBMED:23562747] [PUBMED:20600241] [PUBMED:21622208] [PUBMED:23579596] [PUBMED:22458591] [PUBMED:21489811] [PUBMED:19724019] [PUBMED:21331644] [PUBMED:22448029] [PUBMED:21147620] [PUBMED:20198122] [PUBMED:21677426] [PUBMED:20029269] [PUBMED:22249808] [PUBMED:22991412] [PUBMED:21527729] [PUBMED:17937601] [PUBMED:20553370] [PUBMED:21713385] [PUBMED:23565489] [PUBMED:22289780]
Signaling by PDGF [NCBI:1269478] [REACTOME:R-HSA-186797] [PUBMED:15207811] [PUBMED:10508235] [PUBMED:9739761]
Signaling by SCF-KIT [NCBI:1269487] [REACTOME:R-HSA-1433557] [PUBMED:17350321] [PUBMED:16483568] [PUBMED:7688988] [PUBMED:19540337] [PUBMED:16475976] [PUBMED:15526160]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22044904] [PUBMED:22649417]
Signaling by VEGF [NCBI:1269480] [REACTOME:R-HSA-194138] [PUBMED:15585754] [PUBMED:13678960] [PUBMED:16336962] [PUBMED:16835467]
Signalling by NGF [NCBI:1269443] [REACTOME:R-HSA-166520]
Signalling to ERKs [NCBI:1269464] [REACTOME:R-HSA-187687] [PUBMED:10508738]
Signalling to RAS [NCBI:1269465] [REACTOME:R-HSA-167044] [PUBMED:11520933]
Signalling to p38 via RIT and RIN [NCBI:1269468] [REACTOME:R-HSA-187706] [PUBMED:10712923]
Transport to the Golgi and subsequent modification [NCBI:1268725] [REACTOME:R-HSA-948021] [PUBMED:12717434] [PUBMED:10412983] [PUBMED:3594573]
VEGFA-VEGFR2 Pathway [NCBI:1269483] [REACTOME:R-HSA-4420097] [PUBMED:17344076] [PUBMED:16633338] [PUBMED:19230644] [PUBMED:13678960]
VEGFR2 mediated cell proliferation [NCBI:1269485] [REACTOME:R-HSA-5218921] [PUBMED:22866201] [PUBMED:22180219] [PUBMED:22762016]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]