UniProtKB - P61764 (STXB1_HUMAN)
Syntaxin-binding protein 1
STXBP1
Functioni
Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity).
Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.
By similarityGO - Molecular functioni
- identical protein binding Source: UniProtKB
- phospholipase binding Source: Ensembl
- protein domain specific binding Source: Ensembl
- protein kinase binding Source: Ensembl
- protein N-terminus binding Source: Ensembl
- RNA binding Source: UniProtKB
- SNARE binding Source: UniProtKB
- syntaxin-1 binding Source: UniProtKB
- syntaxin binding Source: UniProtKB
GO - Biological processi
- axon target recognition Source: UniProtKB
- cellular response to interferon-gamma Source: Ensembl
- developmental process involved in reproduction Source: Ensembl
- intracellular protein transport Source: GO_Central
- long-term synaptic depression Source: Ensembl
- negative regulation of neuron apoptotic process Source: Ensembl
- negative regulation of protein-containing complex assembly Source: Ensembl
- negative regulation of synaptic transmission, GABAergic Source: UniProtKB
- neuromuscular synaptic transmission Source: Ensembl
- neurotransmitter secretion Source: GO_Central
- platelet aggregation Source: UniProtKB
- platelet degranulation Source: UniProtKB
- positive regulation of calcium ion-dependent exocytosis Source: Ensembl
- positive regulation of glutamate secretion, neurotransmission Source: Ensembl
- positive regulation of mast cell degranulation Source: Ensembl
- positive regulation of vesicle docking Source: Ensembl
- presynaptic dense core vesicle exocytosis Source: Ensembl
- protein localization to plasma membrane Source: UniProtKB
- protein stabilization Source: Ensembl
- regulation of acrosomal vesicle exocytosis Source: UniProtKB
- regulation of SNARE complex assembly Source: ParkinsonsUK-UCL
- regulation of synaptic vesicle fusion to presynaptic active zone membrane Source: ParkinsonsUK-UCL
- regulation of synaptic vesicle priming Source: UniProtKB
- response to estradiol Source: Ensembl
- SNARE complex assembly Source: UniProtKB
- synaptic vesicle maturation Source: UniProtKB
- synaptic vesicle priming Source: Ensembl
- vesicle docking involved in exocytosis Source: ParkinsonsUK-UCL
- vesicle-mediated transport Source: GO_Central
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P61764 |
Reactomei | R-HSA-181429, Serotonin Neurotransmitter Release Cycle [P61764-1] R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle [P61764-1] R-HSA-210500, Glutamate Neurotransmitter Release Cycle [P61764-1] R-HSA-212676, Dopamine Neurotransmitter Release Cycle [P61764-1] R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle [P61764-1] R-HSA-422356, Regulation of insulin secretion R-HSA-6794361, Neurexins and neuroligins R-HSA-888590, GABA synthesis, release, reuptake and degradation [P61764-1] |
SignaLinki | P61764 |
SIGNORi | P61764 |
Protein family/group databases
TCDBi | 1.F.1.1.3, the synaptosomal vesicle fusion pore (svf-pore) family |
Names & Taxonomyi
Protein namesi | Recommended name: Syntaxin-binding protein 1Alternative name(s): MUNC18-1 N-Sec1 Protein unc-18 homolog 1 Short name: Unc18-1 Protein unc-18 homolog A Short name: Unc-18A p67 |
Gene namesi | Name:STXBP1 Synonyms:UNC18A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11444, STXBP1 |
MIMi | 602926, gene |
neXtProti | NX_P61764 |
VEuPathDBi | HostDB:ENSG00000136854 |
Subcellular locationi
Cytoplasm and Cytosol
- cytosol 1 Publication
Other locations
Cytoskeleton
- cytoskeleton Source: Ensembl
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB
- presynaptic active zone membrane Source: Ensembl
Other locations
- axon Source: Ensembl
- cytoplasm Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- perinuclear region of cytoplasm Source: Ensembl
- phagocytic vesicle Source: Ensembl
- platelet alpha granule Source: UniProtKB
- postsynapse Source: Ensembl
- protein-containing complex Source: UniProtKB
- secretory granule Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Developmental and epileptic encephalopathy 4 (DEE4)11 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078631 | 42 | S → F in DEE4. 1 Publication | 1 | |
Natural variantiVAR_046205 | 84 | V → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar. | 1 | |
Natural variantiVAR_078757 | 122 – 594 | Missing in DEE4. 1 PublicationAdd BLAST | 473 | |
Natural variantiVAR_046206 | 180 | C → Y in DEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar. | 1 | |
Natural variantiVAR_073149 | 183 | L → R in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078633 | 190 | R → W in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl. | 1 | |
Natural variantiVAR_073150 | 251 | A → T in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078758 | 281 | L → P in DEE4. 1 Publication | 1 | |
Natural variantiVAR_071814 | 283 | E → K in DEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar. | 1 | |
Natural variantiVAR_071815 | 285 | D → Y in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078759 | 292 | R → H in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361EnsemblClinVar. | 1 | |
Natural variantiVAR_078634 | 354 | C → R in DEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar. | 1 | |
Natural variantiVAR_078218 | 406 | R → C in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar. | 1 | |
Natural variantiVAR_073151 | 406 | R → H in DEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar. | 1 | |
Natural variantiVAR_046207 | 443 | M → R in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar. | 1 | |
Natural variantiVAR_071816 | 445 | H → P in DEE4. 1 Publication | 1 | |
Natural variantiVAR_073153 | 480 | P → L in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar. | 1 | |
Natural variantiVAR_046208 | 544 | G → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar. | 1 | |
Natural variantiVAR_073154 | 574 | T → P in DEE4. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 6812 |
GeneReviewsi | STXBP1 |
MalaCardsi | STXBP1 |
MIMi | 612164, phenotype |
OpenTargetsi | ENSG00000136854 |
Orphaneti | 495818, 9q33.3q34.11 microdeletion syndrome 599373, STXBP1-related encephalopathy |
PharmGKBi | PA36241 |
Miscellaneous databases
Pharosi | P61764, Tbio |
Genetic variation databases
BioMutai | STXBP1 |
DMDMi | 50403646 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000206277 | 1 – 594 | Syntaxin-binding protein 1Add BLAST | 594 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 476 | PhosphoserineBy similarity | 1 | |
Modified residuei | 509 | PhosphoserineBy similarity | 1 | |
Modified residuei | 511 | PhosphoserineBy similarity | 1 | |
Modified residuei | 516 | PhosphoserineBy similarity | 1 | |
Modified residuei | 593 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P61764 |
jPOSTi | P61764 |
MassIVEi | P61764 |
MaxQBi | P61764 |
PaxDbi | P61764 |
PeptideAtlasi | P61764 |
PRIDEi | P61764 |
ProteomicsDBi | 57331 57332 [P61764-2] |
PTM databases
iPTMneti | P61764 |
MetOSitei | P61764 |
PhosphoSitePlusi | P61764 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136854, Expressed in primary visual cortex and 237 other tissues |
ExpressionAtlasi | P61764, baseline and differential |
Genevisiblei | P61764, HS |
Organism-specific databases
HPAi | ENSG00000136854, Group enriched (brain, pituitary gland, retina) |
Interactioni
Subunit structurei
Interacts with SYTL4 (By similarity).
Interacts with STX1A (PubMed:12730201).
Interacts with alpha-synuclein/SNCA; this interaction controls SNCA self-replicating aggregation (PubMed:27597756).
Interacts with RAB3A; this interaction promotes RAB3A dissociation from the vesicle membrane (By similarity).
Interacts with CABP5 (By similarity).
By similarity2 PublicationsBinary interactionsi
P61764
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- phospholipase binding Source: Ensembl
- protein domain specific binding Source: Ensembl
- protein kinase binding Source: Ensembl
- protein N-terminus binding Source: Ensembl
- SNARE binding Source: UniProtKB
- syntaxin-1 binding Source: UniProtKB
- syntaxin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112681, 107 interactors |
IntActi | P61764, 75 interactors |
MINTi | P61764 |
STRINGi | 9606.ENSP00000362399 |
Miscellaneous databases
RNActi | P61764, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1300, Eukaryota |
GeneTreei | ENSGT00940000155127 |
HOGENOMi | CLU_009210_2_0_1 |
InParanoidi | P61764 |
OMAi | ITDRTMD |
OrthoDBi | 725424at2759 |
PhylomeDBi | P61764 |
TreeFami | TF313242 |
Family and domain databases
Gene3Di | 3.40.50.1910, 1 hit 3.40.50.2060, 1 hit 3.90.830.10, 1 hit |
InterProi | View protein in InterPro IPR043154, Sec-1-like_dom1 IPR043127, Sec-1-like_dom3a IPR001619, Sec1-like IPR027482, Sec1-like_dom2 IPR036045, Sec1-like_sf |
PANTHERi | PTHR11679, PTHR11679, 1 hit |
Pfami | View protein in Pfam PF00995, Sec1, 1 hit |
PIRSFi | PIRSF005715, VPS45_Sec1, 1 hit |
SUPFAMi | SSF56815, SSF56815, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI
60 70 80 90 100
MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR
110 120 130 140 150
AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA
160 170 180 190 200
DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL
210 220 230 240 250
LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ
260 270 280 290 300
AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS
310 320 330 340 350
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL
360 370 380 390 400
AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS
410 420 430 440 450
TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI
460 470 480 490 500
VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP
510 520 530 540 550
YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM
560 570 580 590
RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS
Computationally mapped potential isoform sequencesi
There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GVQ5 | A0A1B0GVQ5_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 577 | Annotation score: | ||
A0A0D9SG72 | A0A0D9SG72_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 580 | Annotation score: | ||
A0A2R8Y5D4 | A0A2R8Y5D4_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 580 | Annotation score: | ||
A0A1B0GTP9 | A0A1B0GTP9_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 589 | Annotation score: | ||
A0A1B0GWF2 | A0A1B0GWF2_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 574 | Annotation score: | ||
A0A1B0GW76 | A0A1B0GW76_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 360 | Annotation score: | ||
A0A096LP52 | A0A096LP52_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 119 | Annotation score: | ||
A0A096LP33 | A0A096LP33_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 75 | Annotation score: | ||
A0A0D9SEH5 | A0A0D9SEH5_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 102 | Annotation score: | ||
A0A0D9SEP9 | A0A0D9SEP9_HUMAN | Syntaxin-binding protein 1 | STXBP1 | 100 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078631 | 42 | S → F in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078632 | 80 | S → P Probable disease-associated variant found in a patient with epileptic encephalopathy. 1 Publication | 1 | |
Natural variantiVAR_046205 | 84 | V → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar. | 1 | |
Natural variantiVAR_073148 | 84 | V → I No effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs34830702EnsemblClinVar. | 1 | |
Natural variantiVAR_078757 | 122 – 594 | Missing in DEE4. 1 PublicationAdd BLAST | 473 | |
Natural variantiVAR_046206 | 180 | C → Y in DEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar. | 1 | |
Natural variantiVAR_073149 | 183 | L → R in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078633 | 190 | R → W in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl. | 1 | |
Natural variantiVAR_073150 | 251 | A → T in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078758 | 281 | L → P in DEE4. 1 Publication | 1 | |
Natural variantiVAR_071814 | 283 | E → K in DEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar. | 1 | |
Natural variantiVAR_071815 | 285 | D → Y in DEE4. 1 Publication | 1 | |
Natural variantiVAR_078759 | 292 | R → H in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361EnsemblClinVar. | 1 | |
Natural variantiVAR_078634 | 354 | C → R in DEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar. | 1 | |
Natural variantiVAR_078218 | 406 | R → C in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar. | 1 | |
Natural variantiVAR_073151 | 406 | R → H in DEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar. | 1 | |
Natural variantiVAR_073152 | 431 | Q → L Variant of uncertain significance; expressed at low levels compared with wild-type; no effect on subcellular location. 1 Publication | 1 | |
Natural variantiVAR_046207 | 443 | M → R in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar. | 1 | |
Natural variantiVAR_071816 | 445 | H → P in DEE4. 1 Publication | 1 | |
Natural variantiVAR_073153 | 480 | P → L in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar. | 1 | |
Natural variantiVAR_078635 | 544 | G → C Found in a patient with Lennox-Gastaut syndrome; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_046208 | 544 | G → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar. | 1 | |
Natural variantiVAR_078636 | 570 | T → A Probable disease-associated variant found in a patient with epileptic encephalopathy. 1 Publication | 1 | |
Natural variantiVAR_073154 | 574 | T → P in DEE4. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006713 | 576 – 594 | QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2. 1 PublicationAdd BLAST | 19 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D63851 mRNA Translation: BAA19483.1 AF004562 mRNA Translation: AAC39688.1 AF004563 mRNA Translation: AAC39689.1 Y12723 mRNA Translation: CAA73255.1 AL162426 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87679.1 CH471090 Genomic DNA Translation: EAW87681.1 BC015749 mRNA Translation: AAH15749.1 |
CCDSi | CCDS35146.1 CCDS6874.1 [P61764-2] |
RefSeqi | NP_001027392.1, NM_001032221.3 [P61764-1] NP_003156.1, NM_003165.3 [P61764-2] |
Genome annotation databases
Ensembli | ENST00000373299.5; ENSP00000362396.2; ENSG00000136854.24 ENST00000373302.8; ENSP00000362399.3; ENSG00000136854.24 [P61764-2] |
GeneIDi | 6812 |
KEGGi | hsa:6812 |
MANE-Selecti | ENST00000373299.5; ENSP00000362396.2; NM_001032221.6; NP_001027392.1 |
UCSCi | uc004brk.2, human uc004brl.3, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D63851 mRNA Translation: BAA19483.1 AF004562 mRNA Translation: AAC39688.1 AF004563 mRNA Translation: AAC39689.1 Y12723 mRNA Translation: CAA73255.1 AL162426 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87679.1 CH471090 Genomic DNA Translation: EAW87681.1 BC015749 mRNA Translation: AAH15749.1 |
CCDSi | CCDS35146.1 CCDS6874.1 [P61764-2] |
RefSeqi | NP_001027392.1, NM_001032221.3 [P61764-1] NP_003156.1, NM_003165.3 [P61764-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6L03 | X-ray | 2.08 | F | 141-149 | [»] | |
AlphaFoldDBi | P61764 | |||||
SMRi | P61764 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112681, 107 interactors |
IntActi | P61764, 75 interactors |
MINTi | P61764 |
STRINGi | 9606.ENSP00000362399 |
Protein family/group databases
TCDBi | 1.F.1.1.3, the synaptosomal vesicle fusion pore (svf-pore) family |
PTM databases
iPTMneti | P61764 |
MetOSitei | P61764 |
PhosphoSitePlusi | P61764 |
Genetic variation databases
BioMutai | STXBP1 |
DMDMi | 50403646 |
Proteomic databases
EPDi | P61764 |
jPOSTi | P61764 |
MassIVEi | P61764 |
MaxQBi | P61764 |
PaxDbi | P61764 |
PeptideAtlasi | P61764 |
PRIDEi | P61764 |
ProteomicsDBi | 57331 57332 [P61764-2] |
Protocols and materials databases
Antibodypediai | 2191, 509 antibodies from 41 providers |
DNASUi | 6812 |
Genome annotation databases
Ensembli | ENST00000373299.5; ENSP00000362396.2; ENSG00000136854.24 ENST00000373302.8; ENSP00000362399.3; ENSG00000136854.24 [P61764-2] |
GeneIDi | 6812 |
KEGGi | hsa:6812 |
MANE-Selecti | ENST00000373299.5; ENSP00000362396.2; NM_001032221.6; NP_001027392.1 |
UCSCi | uc004brk.2, human uc004brl.3, human |
Organism-specific databases
CTDi | 6812 |
DisGeNETi | 6812 |
GeneCardsi | STXBP1 |
GeneReviewsi | STXBP1 |
HGNCi | HGNC:11444, STXBP1 |
HPAi | ENSG00000136854, Group enriched (brain, pituitary gland, retina) |
MalaCardsi | STXBP1 |
MIMi | 602926, gene 612164, phenotype |
neXtProti | NX_P61764 |
OpenTargetsi | ENSG00000136854 |
Orphaneti | 495818, 9q33.3q34.11 microdeletion syndrome 599373, STXBP1-related encephalopathy |
PharmGKBi | PA36241 |
VEuPathDBi | HostDB:ENSG00000136854 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1300, Eukaryota |
GeneTreei | ENSGT00940000155127 |
HOGENOMi | CLU_009210_2_0_1 |
InParanoidi | P61764 |
OMAi | ITDRTMD |
OrthoDBi | 725424at2759 |
PhylomeDBi | P61764 |
TreeFami | TF313242 |
Enzyme and pathway databases
PathwayCommonsi | P61764 |
Reactomei | R-HSA-181429, Serotonin Neurotransmitter Release Cycle [P61764-1] R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle [P61764-1] R-HSA-210500, Glutamate Neurotransmitter Release Cycle [P61764-1] R-HSA-212676, Dopamine Neurotransmitter Release Cycle [P61764-1] R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle [P61764-1] R-HSA-422356, Regulation of insulin secretion R-HSA-6794361, Neurexins and neuroligins R-HSA-888590, GABA synthesis, release, reuptake and degradation [P61764-1] |
SignaLinki | P61764 |
SIGNORi | P61764 |
Miscellaneous databases
BioGRID-ORCSi | 6812, 46 hits in 1077 CRISPR screens |
ChiTaRSi | STXBP1, human |
GeneWikii | STXBP1 |
GenomeRNAii | 6812 |
Pharosi | P61764, Tbio |
PROi | PR:P61764 |
RNActi | P61764, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136854, Expressed in primary visual cortex and 237 other tissues |
ExpressionAtlasi | P61764, baseline and differential |
Genevisiblei | P61764, HS |
Family and domain databases
Gene3Di | 3.40.50.1910, 1 hit 3.40.50.2060, 1 hit 3.90.830.10, 1 hit |
InterProi | View protein in InterPro IPR043154, Sec-1-like_dom1 IPR043127, Sec-1-like_dom3a IPR001619, Sec1-like IPR027482, Sec1-like_dom2 IPR036045, Sec1-like_sf |
PANTHERi | PTHR11679, PTHR11679, 1 hit |
Pfami | View protein in Pfam PF00995, Sec1, 1 hit |
PIRSFi | PIRSF005715, VPS45_Sec1, 1 hit |
SUPFAMi | SSF56815, SSF56815, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | STXB1_HUMAN | |
Accessioni | P61764Primary (citable) accession number: P61764 Secondary accession number(s): B1AM97 Q96TG8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | June 7, 2004 | |
Last modified: | May 25, 2022 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families