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P61764 (STXB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:STXBP1
Synonyms:UNC18A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length594 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Binds SYTL4 By similarity. Interacts with STX1A. Ref.6

Subcellular location

Cytoplasm. Membrane; Peripheral membrane protein.

Tissue specificity

Brain and spinal cord. Highly enriched in axons.

Involvement in disease

Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

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

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Epilepsy
Mental retardation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon target recognition

Inferred from sequence or structural similarity. Source: UniProtKB

energy reserve metabolic process

Traceable author statement. Source: Reactome

glutamate secretion

Traceable author statement. Source: Reactome

long term synaptic depression

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of synaptic transmission, GABAergic

Inferred from sequence or structural similarity. Source: UniProtKB

neuromuscular synaptic transmission

Inferred from electronic annotation. Source: Ensembl

neurotransmitter secretion

Traceable author statement. Source: Reactome

platelet aggregation

Inferred from mutant phenotype PubMed 12773094. Source: UniProtKB

platelet degranulation

Inferred from mutant phenotype PubMed 12773094. Source: UniProtKB

positive regulation of calcium ion-dependent exocytosis

Inferred from electronic annotation. Source: Ensembl

protein stabilization

Inferred from electronic annotation. Source: Ensembl

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of insulin secretion

Traceable author statement. Source: Reactome

regulation of synaptic vesicle priming

Inferred from sequence or structural similarity. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

synaptic transmission

Traceable author statement. Source: Reactome

synaptic vesicle maturation

Inferred from sequence or structural similarity. Source: UniProtKB

vesicle docking involved in exocytosis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

mitochondrion

Inferred from sequence or structural similarity. Source: UniProtKB

plasma membrane

Inferred from direct assay PubMed 12773094. Source: UniProtKB

platelet alpha granule

Inferred from direct assay PubMed 12773094. Source: UniProtKB

protein complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionSNARE binding

Inferred from sequence or structural similarity. Source: UniProtKB

identical protein binding

Inferred from sequence or structural similarity. Source: UniProtKB

poly(A) RNA binding

Inferred from direct assay PubMed 22658674. Source: UniProtKB

syntaxin binding

Inferred from physical interaction PubMed 12773094. Source: UniProtKB

syntaxin-1 binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P61764-1)

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.
Isoform 2 (identifier: P61764-2)

Also known as: BE; HUNC18b;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 594594Syntaxin-binding protein 1
PRO_0000206277

Natural variations

Alternative sequence576 – 59419QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2.
VSP_006713
Natural variant841V → D in EIEE4; may alter protein structure. Ref.9
VAR_046205
Natural variant1801C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. Ref.9
VAR_046206
Natural variant4431M → R in EIEE4; may alter protein structure. Ref.9
VAR_046207
Natural variant5441G → D in EIEE4; may alter protein structure. Ref.9
VAR_046208

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified June 7, 2004. Version 1.
Checksum: 2DD0715F875CE0F3

FASTA59467,569
        10         20         30         40         50         60 
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI MTEGITIVED 

        70         80         90        100        110        120 
INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR AAHVFFTDSC PDALFNELVK 

       130        140        150        160        170        180 
SRAAKVIKTL TEINIAFLPY ESQVYSLDSA DSFQSFYSPH KAQMKNPILE RLAEQIATLC 

       190        200        210        220        230        240 
ATLKEYPAVR YRGEYKDNAL LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS 

       250        260        270        280        290        300 
SPVLHELTFQ AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 

       310        320        330        340        350        360 
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL AEDCMKHYQG 

       370        380        390        400        410        420 
TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS TYDKIRIILL YIFLKNGITE 

       430        440        450        460        470        480 
ENLNKLIQHA QIPPEDSEII TNMAHLGVPI VTDSTLRRRS KPERKERISE QTYQLSRWTP 

       490        500        510        520        530        540 
IIKDIMEDTI EDKLDTKHYP YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF 

       550        560        570        580        590 
ILGGVSLNEM RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS 

« Hide

Isoform 2 (BE) (HUNC18b) [UniParc] [UniParc].

Checksum: 73D8337768259493
Show »

FASTA60368,736

References

« Hide 'large scale' references
[1]"A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants."
Gengyo-Ando K., Kitayama H., Mukaida M., Ikawa Y.
J. Neurosci. 16:6695-6702(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[2]"Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release."
Swanson D.A., Steel J.M., Valle D.
Genomics 48:373-376(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[6]"Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18."
Tian J.H., Das S., Sheng Z.H.
J. Biol. Chem. 278:26265-26274(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH STX1A.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy."
Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N.
Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS35146.1.
CCDS6874.1. [P61764-2]
RefSeqNP_001027392.1. NM_001032221.3. [P61764-1]
NP_003156.1. NM_003165.3. [P61764-2]
UniGeneHs.288229.

3D structure databases

ProteinModelPortalP61764.
SMRP61764. Positions 4-592.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112681. 21 interactions.
IntActP61764. 5 interactions.
MINTMINT-125987.
STRING9606.ENSP00000362399.

PTM databases

PhosphoSiteP61764.

Polymorphism databases

DMDM50403646.

Proteomic databases

MaxQBP61764.
PaxDbP61764.
PRIDEP61764.

Protocols and materials databases

DNASU6812.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373299; ENSP00000362396; ENSG00000136854. [P61764-1]
ENST00000373302; ENSP00000362399; ENSG00000136854. [P61764-2]
GeneID6812.
KEGGhsa:6812.
UCSCuc004brk.2. human. [P61764-2]
uc004brl.2. human.

Organism-specific databases

CTD6812.
GeneCardsGC09P130374.
HGNCHGNC:11444. STXBP1.
HPACAB034434.
HPA008209.
HPA023483.
MIM602926. gene.
612164. phenotype.
neXtProtNX_P61764.
Orphanet1934. Early infantile epileptic encephalopathy.
PharmGKBPA36241.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5158.
HOGENOMHOG000232146.
HOVERGENHBG052710.
KOK15292.
OMALIQDYCV.
OrthoDBEOG78PV8M.
PhylomeDBP61764.
TreeFamTF313242.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP61764.
BgeeP61764.
CleanExHS_STXBP1.
GenevestigatorP61764.

Family and domain databases

Gene3D3.40.50.1910. 2 hits.
InterProIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERPTHR11679. PTHR11679. 1 hit.
PfamPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMSSF56815. SSF56815. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSTXBP1. human.
GeneWikiSTXBP1.
GenomeRNAi6812.
NextBio26583.
PROP61764.
SOURCESearch...

Entry information

Entry nameSTXB1_HUMAN
AccessionPrimary (citable) accession number: P61764
Secondary accession number(s): B1AM97 expand/collapse secondary AC list , Q28208, Q62759, Q64320, Q96TG8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: July 9, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM