Entity Details

Primary name STXBP1
Entity type gene
Source Source Link

Details

PrimaryID6812
RefseqGeneNG_016623
SymbolSTXBP1
Namesyntaxin binding protein 1
Chromosome9
Location9q34.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSTXB1_HUMAN

GO terms

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GOName
GO:0000149 SNARE binding
GO:0002576 platelet degranulation
GO:0003006 developmental process involved in reproduction
GO:0003723 RNA binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0006836 neurotransmitter transport
GO:0006886 intracellular protein transport
GO:0006904 vesicle docking involved in exocytosis
GO:0007269 neurotransmitter secretion
GO:0007274 neuromuscular synaptic transmission
GO:0007412 axon target recognition
GO:0010807 regulation of synaptic vesicle priming
GO:0016082 synaptic vesicle priming
GO:0016188 synaptic vesicle maturation
GO:0016192 vesicle-mediated transport
GO:0017075 syntaxin-1 binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0019905 syntaxin binding
GO:0030141 secretory granule
GO:0030424 axon
GO:0031091 platelet alpha granule
GO:0031333 negative regulation of protein-containing complex assembly
GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane
GO:0032229 negative regulation of synaptic transmission, GABAergic
GO:0032355 response to estradiol
GO:0032991 protein-containing complex
GO:0035493 SNARE complex assembly
GO:0035542 regulation of SNARE complex assembly
GO:0042802 identical protein binding
GO:0043274 phospholipase binding
GO:0043306 positive regulation of mast cell degranulation
GO:0043524 negative regulation of neuron apoptotic process
GO:0045335 phagocytic vesicle
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0047485 protein N-terminus binding
GO:0048471 perinuclear region of cytoplasm
GO:0048787 presynaptic active zone membrane
GO:0050821 protein stabilization
GO:0060292 long-term synaptic depression
GO:0070062 extracellular exosome
GO:0070527 platelet aggregation
GO:0071346 cellular response to interferon-gamma
GO:0072659 protein localization to plasma membrane
GO:0098794 postsynapse
GO:0098978 glutamatergic synapse
GO:0099525 presynaptic dense core vesicle exocytosis
GO:0106022 positive regulation of vesicle docking
GO:1903296 positive regulation of glutamate secretion, neurotransmission
GO:2000367 regulation of acrosomal vesicle exocytosis

Diseases

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Disease IDSourceNameDescription
612164 OMIMDevelopmental and epileptic encephalopathy 4 (DEE4)A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination. The disease is caused by variants affecting the gene represented in this entry.

Interactions

127 interactions

InteractorPartnerSourcesPublicationsLink
STXBP1APPBioGRID, IntAct16049941 21832049 32814053 details
STXBP1PLD1HPRD, MINT14744865 19323535 details
STXBP1HTTIntAct17500595 32814053 details
STXBP1TRIM38BioGRID, IntAct25416956 25910212 32296183 details
STXBP1STX11BioGRID, IntAct25416956 25910212 28514442 details
STXBP1STX19BioGRID, IntAct25416956 25910212 26186194 28514442 32296183 details
STXBP1MTNR1ABioGRID, IntAct26514267 details
STXBP1CENPPBioGRID, IntAct32296183 details
STXBP1STX5BioGRID, IntAct25910212 32296183 details
STXBP1SPICE1BioGRID, IntAct32296183 details
STXBP1MAPK1BioGRID, IntAct32296183 details
STXBP1SYTL4BioGRID, HPRD, IntAct12590134 15563604 24700782 32296183 details
STXBP1BRME1BioGRID, IntAct25910212 details
STXBP1MEOX2BioGRID, IntAct25910212 details
STXBP1STX1BBioGRID, HPRD, IntAct12093152 31413325 details
STXBP1STX1ABioGRID, HPRD, IntAct10194441 10449403 10746715 12093152 12519779 12963086 15563604 17363971 31413325 7553862 8108429 9045631 details
STXBP1DRD4IntAct32814053 details
STXBP1KLF11IntAct32814053 details
STXBP1NCOR1IntAct32814053 details
STXBP1HGSBioGRID19019082 details
STXBP1SQSTM1BioGRID14702098 details
STXBP1APBA1BioGRID, HPRD15563604 9395480 details
STXBP1APBA2BioGRID, HPRD15563604 9395480 details
STXBP1PRKCABioGRID, HPRD12519779 12950453 8631738 details
STXBP1SPTBN1BioGRID21866423 details
STXBP1DOC2AHPRD9115738 details
STXBP1DOC2BHPRD9115738 details
STXBP1PRKAR1AIntAct20195357 details
STXBP1HSPA8IntAct25910212 details
STXBP1STX3BioGRID, HPRD, IntAct17363971 24700782 26186194 28514442 9045631 details
STXBP1PSEN1UniProt25893612 details
STXBP1PARP2IntAct31413325 details
STXBP1CCDC148IntAct31413325 details
STXBP1ABCA3IntAct31413325 details
STXBP1ARHGEF12IntAct31413325 details
STXBP1TECPR1IntAct31413325 details
STXBP1BIN1IntAct31413325 details
STXBP1KCNMB4IntAct31413325 details
STXBP1PARVBIntAct31413325 details
STXBP1MYO18AIntAct31413325 details
STXBP1NAP1L2IntAct31413325 details
STXBP1NASPIntAct31413325 details
STXBP1OPA1IntAct31413325 details
STXBP1TERF2IPIntAct31413325 details
STXBP1IMP3IntAct31413325 details
STXBP1CAND1IntAct31413325 details
STXBP1ANKRD36BIntAct31413325 details
STXBP1RAP1GDS1IntAct31413325 details
STXBP1RPS13IntAct31413325 details
STXBP1SH3GL1IntAct31413325 details
STXBP1DSTIntAct31413325 details
STXBP1SPTBN2IntAct31413325 details
STXBP1DISC1IntAct31413325 details
STXBP1OBI1IntAct31413325 details
STXBP1CEP70IntAct31413325 details
STXBP1ACTN1IntAct31413325 details
STXBP1KALRNIntAct31413325 details
STXBP1SESTD1IntAct31413325 details
STXBP1EIF5BIntAct31413325 details
STXBP1CDK5BioGRID, HPRD12963086 details
STXBP1MAPTBioGRID, HPRD12963086 details
STXBP1TUBB2ABioGRID12963086 details
STXBP1TUBA4ABioGRID12963086 details
STXBP1STX2BioGRID, HPRD12773094 24700782 9045631 details
STXBP1STX4BioGRID12773094 details
STXBP1PREX1BioGRID26792863 details
STXBP1PRKCBHPRD12519779 12950453 8631738 details
STXBP1PRKCGHPRD12519779 12950453 8631738 details
STXBP1USO1HPRD10903204 11927603 details
STXBP1CDK5R1HPRD9933594 details
STXBP1PLD2HPRD14744865 details
STXBP1NEFHHPRD12963086 details
STXBP1NEFMHPRD12963086 details
STXBP1IQCB1BioGRID, IntAct21565611 details
STXBP1POLG2BioGRID, IntAct26496610 details
STXBP1DNAJC11BioGRID, IntAct26496610 details
STXBP1FERMT3BioGRID, IntAct26496610 details
STXBP1ID1BioGRID, IntAct26496610 details
STXBP1HSP90AB1IntAct25910212 details
STXBP1NUFIP1BioGRID, IntAct26186194 28514442 details
STXBP1DGUOKBioGRID, IntAct26186194 28514442 details
STXBP1HAX1BioGRID, IntAct26186194 28514442 details
STXBP1RRP7ABioGRID, IntAct26186194 28514442 details
STXBP1ARMC1BioGRID, IntAct26186194 28514442 details
STXBP1DNAAF2BioGRID, IntAct26186194 28514442 details
STXBP1CDCA8BioGRID, IntAct26186194 28514442 details
STXBP1GPRC5BBioGRID, IntAct28514442 details
STXBP1TUSC3BioGRID, IntAct28514442 details
STXBP1GJA1BioGRID, IntAct26186194 28514442 details
STXBP1TM4SF18BioGRID, IntAct28514442 details
STXBP1MKI67BioGRID, IntAct26949251 details
STXBP1NCSTNUniProt25893612 details
STXBP1SNAP25BioGRID, MINT26344197 30610939 details
STXBP1KCTD3BioGRID22939629 details
STXBP1ACTR2BioGRID26344197 details
STXBP1ARHGAP17BioGRID26344197 details
STXBP1NPEPPSBioGRID26344197 details
STXBP1PPP1R8BioGRID26344197 details
STXBP1SHC1BioGRID26344197 details
STXBP1SHMT1BioGRID26344197 details
STXBP1ACTR3BioGRID26344197 details
STXBP1ALDOCBioGRID26344197 details
STXBP1ARPC3BioGRID26344197 details
STXBP1EHD1BioGRID26344197 details
STXBP1NDUFV1BioGRID26344197 details
STXBP1NUP50BioGRID26344197 details
STXBP1PICALMBioGRID26344197 details
STXBP1NTRK1BioGRID25921289 details
STXBP1GRPEL1BioGRID31536960 details
STXBP1OXCT1BioGRID31536960 details
STXBP1SUCLG2BioGRID31536960 details
STXBP1ECHS1BioGRID31536960 details
STXBP1SH3BGRL3BioGRID31536960 details
STXBP1CMPK1BioGRID31536960 details
STXBP1SUCLA2BioGRID31536960 details
STXBP1SUCLG1BioGRID31536960 details
STXBP1UBE2NBioGRID31536960 details
STXBP1BOLA3BioGRID31536960 details
STXBP1UCHL1BioGRID31536960 details
STXBP1TRIM28BioGRID29955894 details
STXBP1KCTD10BioGRID31280863 details
STXBP1KIF14BioGRID31586073 details
STXBP1BCAR1BioGRID33001583 details
STXBP1RBM39BioGRID28302793 details
STXBP1NR3C1BioGRID31182584 details
STXBP1VIRMABioGRID29507755 details
STXBP1MTDHBioGRID22199357 details