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Genes
SPTAN1
Gene - SPTAN1
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]