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UniProtKB - P61764 (STXB1_HUMAN)

Protein

Syntaxin-binding protein 1

Gene

STXBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP61764

Names & Taxonomyi

Protein namesi
Recommended name:
Syntaxin-binding protein 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136854.17
HGNCiHGNC:11444 STXBP1
MIMi602926 gene
neXtProtiNX_P61764

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

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:612164
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07863142S → F in EIEE4. 1 Publication1
Natural variantiVAR_04620584V → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar.1
Natural variantiVAR_078757122 – 594Missing in EIEE4. 1 PublicationAdd BLAST473
Natural variantiVAR_046206180C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar.1
Natural variantiVAR_073149183L → R in EIEE4. 1 Publication1
Natural variantiVAR_078633190R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355EnsemblClinVar.1
Natural variantiVAR_073150251A → T in EIEE4. 1 Publication1
Natural variantiVAR_078758281L → P in EIEE4. 1 Publication1
Natural variantiVAR_071814283E → K in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar.1
Natural variantiVAR_071815285D → Y in EIEE4. 1 Publication1
Natural variantiVAR_078759292R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361EnsemblClinVar.1
Natural variantiVAR_078634354C → R in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar.1
Natural variantiVAR_078218406R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar.1
Natural variantiVAR_073151406R → H in EIEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar.1
Natural variantiVAR_046207443M → R in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar.1
Natural variantiVAR_071816445H → P in EIEE4. 1 Publication1
Natural variantiVAR_073153480P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar.1
Natural variantiVAR_046208544G → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar.1
Natural variantiVAR_073154574T → P in EIEE4. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi6812
MalaCardsiSTXBP1
MIMi612164 phenotype
OpenTargetsiENSG00000136854
Orphaneti495818 9q33.3q34.11 microdeletion syndrome
3095 Atypical Rett syndrome
178469 Autosomal dominant non-syndromic intellectual disability
33069 Dravet syndrome
1934 Early infantile epileptic encephalopathy
442835 Undetermined early-onset epileptic encephalopathy
3451 West syndrome
PharmGKBiPA36241

Polymorphism and mutation databases

BioMutaiSTXBP1
DMDMi50403646

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002062771 – 594Syntaxin-binding protein 1Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei476PhosphoserineBy similarity1
Modified residuei509PhosphoserineBy similarity1
Modified residuei511PhosphoserineBy similarity1
Modified residuei516PhosphoserineBy similarity1
Modified residuei593PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP61764
PaxDbiP61764
PeptideAtlasiP61764
PRIDEiP61764
ProteomicsDBi57331
57332 [P61764-2]

PTM databases

iPTMnetiP61764
PhosphoSitePlusiP61764

Expressioni

Tissue specificityi

Brain and spinal cord. Highly enriched in axons.

Gene expression databases

BgeeiENSG00000136854 Expressed in 224 organ(s), highest expression level in primary visual cortex
CleanExiHS_STXBP1
ExpressionAtlasiP61764 baseline and differential
GenevisibleiP61764 HS

Organism-specific databases

HPAiCAB034434
HPA008209
HPA023483

Interactioni

Subunit structurei

Binds SYTL4 (By similarity). Interacts with STX1A.By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112681, 66 interactors
IntActiP61764, 24 interactors
MINTiP61764
STRINGi9606.ENSP00000362399

Structurei

3D structure databases

ProteinModelPortaliP61764
SMRiP61764
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

eggNOGiKOG1300 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00390000005206
HOGENOMiHOG000232146
HOVERGENiHBG052710
InParanoidiP61764
KOiK15292
OMAiMHMREAI
OrthoDBiEOG091G0WUI
PhylomeDBiP61764
TreeFamiTF313242

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
PIRSFiPIRSF005715 VPS45_Sec1, 1 hit
SUPFAMiSSF56815 SSF56815, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

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.

« Hide
        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
Length:594
Mass (Da):67,569
Last modified:June 7, 2004 - v1
Checksum:i2DD0715F875CE0F3
GO
Isoform 2 (identifier: P61764-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: BE, HUNC18b

The sequence of this isoform differs from the canonical sequence as follows:
     576-594: QKLLDTLKKLNKTDEEISS → TKFLMDLRHPDFRESSRVSFEDQAPTME

Show »
Length:603
Mass (Da):68,736
Checksum:i73D8337768259493
GO

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SG72A0A0D9SG72_HUMAN
Syntaxin-binding protein 1
STXBP1
580Annotation score:
A0A1B0GVQ5A0A1B0GVQ5_HUMAN
Syntaxin-binding protein 1
STXBP1
577Annotation score:
A0A1B0GTP9A0A1B0GTP9_HUMAN
Syntaxin-binding protein 1
STXBP1
589Annotation score:
A0A1B0GWF2A0A1B0GWF2_HUMAN
Syntaxin-binding protein 1
STXBP1
574Annotation score:
A0A096LP52A0A096LP52_HUMAN
Syntaxin-binding protein 1
STXBP1
119Annotation score:
A0A096LP33A0A096LP33_HUMAN
Syntaxin-binding protein 1
STXBP1
75Annotation score:
A0A0D9SEP9A0A0D9SEP9_HUMAN
Syntaxin-binding protein 1
STXBP1
100Annotation score:
A0A0D9SFQ7A0A0D9SFQ7_HUMAN
Syntaxin-binding protein 1
STXBP1
147Annotation score:
A0A0D9SEH5A0A0D9SEH5_HUMAN
Syntaxin-binding protein 1
STXBP1
102Annotation score:
A0A0D9SFW6A0A0D9SFW6_HUMAN
Syntaxin-binding protein 1
STXBP1
149Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07863142S → F in EIEE4. 1 Publication1
Natural variantiVAR_07863280S → P Probable disease-associated mutation found in a patient with epileptic encephalopathy. 1 Publication1
Natural variantiVAR_04620584V → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar.1
Natural variantiVAR_07314884V → I Neutral polymorphism; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs34830702EnsemblClinVar.1
Natural variantiVAR_078757122 – 594Missing in EIEE4. 1 PublicationAdd BLAST473
Natural variantiVAR_046206180C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar.1
Natural variantiVAR_073149183L → R in EIEE4. 1 Publication1
Natural variantiVAR_078633190R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355EnsemblClinVar.1
Natural variantiVAR_073150251A → T in EIEE4. 1 Publication1
Natural variantiVAR_078758281L → P in EIEE4. 1 Publication1
Natural variantiVAR_071814283E → K in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar.1
Natural variantiVAR_071815285D → Y in EIEE4. 1 Publication1
Natural variantiVAR_078759292R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361EnsemblClinVar.1
Natural variantiVAR_078634354C → R in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar.1
Natural variantiVAR_078218406R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar.1
Natural variantiVAR_073151406R → H in EIEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar.1
Natural variantiVAR_073152431Q → L Neutral polymorphism; expressed at low levels compared with wild-type; no effect on subcellular location. 1 Publication1
Natural variantiVAR_046207443M → R in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar.1
Natural variantiVAR_071816445H → P in EIEE4. 1 Publication1
Natural variantiVAR_073153480P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar.1
Natural variantiVAR_078635544G → C Found in a patient with Lennox-Gastaut syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_046208544G → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar.1
Natural variantiVAR_078636570T → A Probable disease-associated mutation found in a patient with epileptic encephalopathy. 1 Publication1
Natural variantiVAR_073154574T → P in EIEE4. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006713576 – 594QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2. 1 PublicationAdd BLAST19

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
CCDSiCCDS35146.1
CCDS6874.1 [P61764-2]
RefSeqiNP_001027392.1, NM_001032221.3 [P61764-1]
NP_003156.1, NM_003165.3 [P61764-2]
UniGeneiHs.288229

Genome annotation databases

EnsembliENST00000373299; ENSP00000362396; ENSG00000136854 [P61764-1]
ENST00000373302; ENSP00000362399; ENSG00000136854 [P61764-2]
GeneIDi6812
KEGGihsa:6812
UCSCiuc004brk.2 human
uc004brl.3 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS35146.1
CCDS6874.1 [P61764-2]
RefSeqiNP_001027392.1, NM_001032221.3 [P61764-1]
NP_003156.1, NM_003165.3 [P61764-2]
UniGeneiHs.288229

3D structure databases

ProteinModelPortaliP61764
SMRiP61764
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112681, 66 interactors
IntActiP61764, 24 interactors
MINTiP61764
STRINGi9606.ENSP00000362399

PTM databases

iPTMnetiP61764
PhosphoSitePlusiP61764

Polymorphism and mutation databases

BioMutaiSTXBP1
DMDMi50403646

Proteomic databases

EPDiP61764
PaxDbiP61764
PeptideAtlasiP61764
PRIDEiP61764
ProteomicsDBi57331
57332 [P61764-2]

Protocols and materials databases

DNASUi6812
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373299; ENSP00000362396; ENSG00000136854 [P61764-1]
ENST00000373302; ENSP00000362399; ENSG00000136854 [P61764-2]
GeneIDi6812
KEGGihsa:6812
UCSCiuc004brk.2 human
uc004brl.3 human

Organism-specific databases

CTDi6812
DisGeNETi6812
EuPathDBiHostDB:ENSG00000136854.17
GeneCardsiSTXBP1
HGNCiHGNC:11444 STXBP1
HPAiCAB034434
HPA008209
HPA023483
MalaCardsiSTXBP1
MIMi602926 gene
612164 phenotype
neXtProtiNX_P61764
OpenTargetsiENSG00000136854
Orphaneti495818 9q33.3q34.11 microdeletion syndrome
3095 Atypical Rett syndrome
178469 Autosomal dominant non-syndromic intellectual disability
33069 Dravet syndrome
1934 Early infantile epileptic encephalopathy
442835 Undetermined early-onset epileptic encephalopathy
3451 West syndrome
PharmGKBiPA36241
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1300 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00390000005206
HOGENOMiHOG000232146
HOVERGENiHBG052710
InParanoidiP61764
KOiK15292
OMAiMHMREAI
OrthoDBiEOG091G0WUI
PhylomeDBiP61764
TreeFamiTF313242

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP61764

Miscellaneous databases

ChiTaRSiSTXBP1 human
GeneWikiiSTXBP1
GenomeRNAii6812
PROiPR:P61764
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136854 Expressed in 224 organ(s), highest expression level in primary visual cortex
CleanExiHS_STXBP1
ExpressionAtlasiP61764 baseline and differential
GenevisibleiP61764 HS

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
PIRSFiPIRSF005715 VPS45_Sec1, 1 hit
SUPFAMiSSF56815 SSF56815, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSTXB1_HUMAN
AccessioniPrimary (citable) accession number: P61764
Secondary accession number(s): B1AM97
, Q28208, Q62759, Q64320, Q68CM6, Q96TG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: November 7, 2018
This is version 150 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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