UniProtKB - P61764 (STXB1_HUMAN)
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Protein
Syntaxin-binding protein 1
Gene
STXBP1
Organism
Homo sapiens (Human)
Status
Functioni
May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. 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.
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
- 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
- glutamate secretion Source: Reactome
- long term synaptic depression Source: Ensembl
- negative regulation of neuron apoptotic process Source: Ensembl
- negative regulation of protein complex assembly Source: Ensembl
- negative regulation of synaptic transmission, GABAergic Source: UniProtKB
- neuromuscular synaptic transmission Source: Ensembl
- neurotransmitter secretion Source: Reactome
- 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
- protein transport Source: UniProtKB-KW
- 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
- synaptic vesicle maturation Source: UniProtKB
- vesicle docking involved in exocytosis Source: ParkinsonsUK-UCL
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
Reactomei | R-HSA-181429 Serotonin Neurotransmitter Release Cycle R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle R-HSA-210500 Glutamate Neurotransmitter Release Cycle R-HSA-212676 Dopamine Neurotransmitter Release Cycle R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle R-HSA-422356 Regulation of insulin secretion R-HSA-6794361 Neurexins and neuroligins R-HSA-888590 GABA synthesis, release, reuptake and degradation |
SIGNORi | P61764 |
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
EuPathDBi | HostDB:ENSG00000136854.17 |
HGNCi | HGNC:11444 STXBP1 |
MIMi | 602926 gene |
neXtProti | NX_P61764 |
Pathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 4 (EIEE4)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612164Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078631 | 42 | S → F in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_046205 | 84 | V → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320Ensembl. | 1 | |
Natural variantiVAR_078757 | 122 – 594 | Missing in EIEE4. 1 PublicationAdd BLAST | 473 | |
Natural variantiVAR_046206 | 180 | C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318Ensembl. | 1 | |
Natural variantiVAR_073149 | 183 | L → R in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078633 | 190 | R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl. | 1 | |
Natural variantiVAR_073150 | 251 | A → T in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078758 | 281 | L → P in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_071814 | 283 | E → K in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310Ensembl. | 1 | |
Natural variantiVAR_071815 | 285 | D → Y in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078759 | 292 | R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl. | 1 | |
Natural variantiVAR_078634 | 354 | C → R in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337Ensembl. | 1 | |
Natural variantiVAR_078218 | 406 | R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367Ensembl. | 1 | |
Natural variantiVAR_073151 | 406 | R → H in EIEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246Ensembl. | 1 | |
Natural variantiVAR_046207 | 443 | M → R in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319Ensembl. | 1 | |
Natural variantiVAR_071816 | 445 | H → P in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_073153 | 480 | P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368Ensembl. | 1 | |
Natural variantiVAR_046208 | 544 | G → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317Ensembl. | 1 | |
Natural variantiVAR_073154 | 574 | T → P in EIEE4. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 6812 |
MalaCardsi | STXBP1 |
MIMi | 612164 phenotype |
OpenTargetsi | ENSG00000136854 |
Orphaneti | 33069 Dravet syndrome 1934 Early infantile epileptic encephalopathy |
PharmGKBi | PA36241 |
Polymorphism and mutation 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 |
PaxDbi | P61764 |
PeptideAtlasi | P61764 |
PRIDEi | P61764 |
PTM databases
iPTMneti | P61764 |
PhosphoSitePlusi | P61764 |
Expressioni
Tissue specificityi
Brain and spinal cord. Highly enriched in axons.
Gene expression databases
Bgeei | ENSG00000136854 |
CleanExi | HS_STXBP1 |
ExpressionAtlasi | P61764 baseline and differential |
Genevisiblei | P61764 HS |
Organism-specific databases
HPAi | CAB034434 HPA008209 HPA023483 |
Interactioni
Subunit structurei
Binds SYTL4 (By similarity). Interacts with STX1A.By similarity1 Publication
Binary interactionsi
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 | 11268166 interactors. |
IntActi | P61764 23 interactors. |
MINTi | P61764 |
STRINGi | 9606.ENSP00000362399 |
Structurei
3D structure databases
ProteinModelPortali | P61764 |
SMRi | P61764 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the STXBP/unc-18/SEC1 family.Curated
Phylogenomic databases
eggNOGi | KOG1300 Eukaryota COG5158 LUCA |
GeneTreei | ENSGT00390000005206 |
HOGENOMi | HOG000232146 |
HOVERGENi | HBG052710 |
InParanoidi | P61764 |
KOi | K15292 |
OMAi | HMREAID |
OrthoDBi | EOG091G0WUI |
PhylomeDBi | P61764 |
TreeFami | TF313242 |
Family and domain databases
Gene3Di | 3.40.50.19102 hits |
InterProi | View protein in InterPro IPR027482 Sec-1-like_dom2 IPR001619 Sec1-like 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 basket
Isoform 1 (identifier: P61764-1) [UniParc]FASTAAdd to basket
Also known as: A
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078631 | 42 | S → F in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078632 | 80 | S → P Probable disease-associated mutation found in a patient with epileptic encephalopathy. 1 Publication | 1 | |
Natural variantiVAR_046205 | 84 | V → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320Ensembl. | 1 | |
Natural variantiVAR_073148 | 84 | V → I Neutral polymorphism; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs34830702Ensembl. | 1 | |
Natural variantiVAR_078757 | 122 – 594 | Missing in EIEE4. 1 PublicationAdd BLAST | 473 | |
Natural variantiVAR_046206 | 180 | C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318Ensembl. | 1 | |
Natural variantiVAR_073149 | 183 | L → R in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078633 | 190 | R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl. | 1 | |
Natural variantiVAR_073150 | 251 | A → T in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078758 | 281 | L → P in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_071814 | 283 | E → K in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310Ensembl. | 1 | |
Natural variantiVAR_071815 | 285 | D → Y in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_078759 | 292 | R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl. | 1 | |
Natural variantiVAR_078634 | 354 | C → R in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337Ensembl. | 1 | |
Natural variantiVAR_078218 | 406 | R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367Ensembl. | 1 | |
Natural variantiVAR_073151 | 406 | R → H in EIEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246Ensembl. | 1 | |
Natural variantiVAR_073152 | 431 | Q → L Neutral polymorphism; expressed at low levels compared with wild-type; no effect on subcellular location. 1 Publication | 1 | |
Natural variantiVAR_046207 | 443 | M → R in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319Ensembl. | 1 | |
Natural variantiVAR_071816 | 445 | H → P in EIEE4. 1 Publication | 1 | |
Natural variantiVAR_073153 | 480 | P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368Ensembl. | 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 EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317Ensembl. | 1 | |
Natural variantiVAR_078636 | 570 | T → A Probable disease-associated mutation found in a patient with epileptic encephalopathy. 1 Publication | 1 | |
Natural variantiVAR_073154 | 574 | T → P in EIEE4. 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 AL162426 Genomic DNA No translation available. 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] |
UniGenei | Hs.288229 |
Genome annotation databases
Ensembli | ENST00000373299; ENSP00000362396; ENSG00000136854 [P61764-1] ENST00000373302; ENSP00000362399; ENSG00000136854 [P61764-2] |
GeneIDi | 6812 |
KEGGi | hsa:6812 |
UCSCi | uc004brk.2 human |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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: | April 25, 2018 | |
This is version 144 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. |