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Protein

Syntaxin-binding protein 1

Gene

STXBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • 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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136854.17.
HGNCiHGNC:11444. STXBP1.

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:rs121918320Ensembl.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:rs121918318Ensembl.1
Natural variantiVAR_073149183L → R in EIEE4. 1 Publication1
Natural variantiVAR_078633190R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl.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:rs587777310Ensembl.1
Natural variantiVAR_071815285D → Y in EIEE4. 1 Publication1
Natural variantiVAR_078759292R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl.1
Natural variantiVAR_078634354C → R in EIEE4. 1 Publication1
Natural variantiVAR_078218406R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367Ensembl.1
Natural variantiVAR_073151406R → H in EIEE4. 2 Publications1
Natural variantiVAR_046207443M → R in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319Ensembl.1
Natural variantiVAR_071816445H → P in EIEE4. 1 Publication1
Natural variantiVAR_073153480P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368Ensembl.1
Natural variantiVAR_046208544G → D in EIEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317Ensembl.1
Natural variantiVAR_073154574T → P in EIEE4. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi6812.
MalaCardsiSTXBP1.
MIMi612164. phenotype.
OpenTargetsiENSG00000136854.
Orphaneti33069. Dravet syndrome.
1934. Early infantile epileptic encephalopathy.
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.

PTM databases

iPTMnetiP61764.
PhosphoSitePlusiP61764.

Expressioni

Tissue specificityi

Brain and spinal cord. Highly enriched in axons.

Gene expression databases

BgeeiENSG00000136854.
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112681. 65 interactors.
IntActiP61764. 23 interactors.
MINTiMINT-125987.
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.
OMAiHMREAID.
OrthoDBiEOG091G0WUI.
PhylomeDBiP61764.
TreeFamiTF313242.

Family and domain databases

InterProiView protein in InterPro
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

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

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:rs121918320Ensembl.1
Natural variantiVAR_07314884V → I Neutral polymorphism; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs34830702Ensembl.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:rs121918318Ensembl.1
Natural variantiVAR_073149183L → R in EIEE4. 1 Publication1
Natural variantiVAR_078633190R → W in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl.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:rs587777310Ensembl.1
Natural variantiVAR_071815285D → Y in EIEE4. 1 Publication1
Natural variantiVAR_078759292R → H in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl.1
Natural variantiVAR_078634354C → R in EIEE4. 1 Publication1
Natural variantiVAR_078218406R → C in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367Ensembl.1
Natural variantiVAR_073151406R → H in EIEE4. 2 Publications1
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:rs121918319Ensembl.1
Natural variantiVAR_071816445H → P in EIEE4. 1 Publication1
Natural variantiVAR_073153480P → L in EIEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368Ensembl.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:rs121918317Ensembl.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.
AL162426 Genomic DNA. Translation: CAI41180.1.
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.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSTXB1_HUMAN
AccessioniPrimary (citable) accession number: P61764
Secondary accession number(s): B1AM97
, Q28208, Q62759, Q64320, Q96TG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: October 25, 2017
This is version 140 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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families