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P61764

- STXB1_HUMAN

UniProt

P61764 - STXB1_HUMAN

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Protein

Syntaxin-binding protein 1

Gene

STXBP1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. identical protein binding Source: UniProtKB
  2. poly(A) RNA binding Source: UniProtKB
  3. SNARE binding Source: UniProtKB
  4. syntaxin-1 binding Source: UniProtKB
  5. syntaxin binding Source: UniProtKB

GO - Biological processi

  1. axon target recognition Source: UniProtKB
  2. energy reserve metabolic process Source: Reactome
  3. glutamate secretion Source: Reactome
  4. long term synaptic depression Source: Ensembl
  5. negative regulation of neuron apoptotic process Source: Ensembl
  6. negative regulation of synaptic transmission, GABAergic Source: UniProtKB
  7. neuromuscular synaptic transmission Source: Ensembl
  8. neurotransmitter secretion Source: Reactome
  9. platelet aggregation Source: UniProtKB
  10. platelet degranulation Source: UniProtKB
  11. positive regulation of calcium ion-dependent exocytosis Source: Ensembl
  12. protein stabilization Source: Ensembl
  13. protein transport Source: UniProtKB-KW
  14. regulation of insulin secretion Source: Reactome
  15. regulation of SNARE complex assembly Source: ParkinsonsUK-UCL
  16. regulation of synaptic vesicle fusion to presynaptic membrane Source: ParkinsonsUK-UCL
  17. regulation of synaptic vesicle priming Source: UniProtKB
  18. small molecule metabolic process Source: Reactome
  19. synaptic transmission Source: Reactome
  20. synaptic vesicle maturation Source: UniProtKB
  21. vesicle docking involved in exocytosis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin Neurotransmitter Release Cycle.
REACT_18325. Regulation of insulin secretion.
REACT_23947. GABA synthesis, release, reuptake and degradation.

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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:11444. STXBP1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. mitochondrion Source: UniProtKB
  5. plasma membrane Source: UniProtKB
  6. platelet alpha granule Source: UniProtKB
  7. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841V → D in EIEE4; may alter protein structure. 1 Publication
VAR_046205
Natural varianti180 – 1801C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 Publication
VAR_046206
Natural varianti283 – 2831E → K in EIEE4. 1 Publication
VAR_071814
Natural varianti285 – 2851D → Y in EIEE4. 1 Publication
VAR_071815
Natural varianti443 – 4431M → R in EIEE4; may alter protein structure. 1 Publication
VAR_046207
Natural varianti445 – 4451H → P in EIEE4. 1 Publication
VAR_071816
Natural varianti544 – 5441G → D in EIEE4; may alter protein structure. 1 Publication
VAR_046208

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MIMi612164. phenotype.
Orphaneti33069. Dravet syndrome.
1934. Early infantile epileptic encephalopathy.
PharmGKBiPA36241.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 594594Syntaxin-binding protein 1PRO_0000206277Add
BLAST

Proteomic databases

MaxQBiP61764.
PaxDbiP61764.
PRIDEiP61764.

PTM databases

PhosphoSiteiP61764.

Expressioni

Tissue specificityi

Brain and spinal cord. Highly enriched in axons.

Gene expression databases

BgeeiP61764.
CleanExiHS_STXBP1.
ExpressionAtlasiP61764. baseline and differential.
GenevestigatoriP61764.

Organism-specific databases

HPAiCAB034434.
HPA008209.
HPA023483.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112681. 31 interactions.
IntActiP61764. 5 interactions.
MINTiMINT-125987.
STRINGi9606.ENSP00000362399.

Structurei

3D structure databases

ProteinModelPortaliP61764.
SMRiP61764. Positions 4-592.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG5158.
GeneTreeiENSGT00390000005206.
HOGENOMiHOG000232146.
HOVERGENiHBG052710.
InParanoidiP61764.
KOiK15292.
OMAiLIQDYCV.
OrthoDBiEOG78PV8M.
PhylomeDBiP61764.
TreeFamiTF313242.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841V → D in EIEE4; may alter protein structure. 1 Publication
VAR_046205
Natural varianti180 – 1801C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 Publication
VAR_046206
Natural varianti283 – 2831E → K in EIEE4. 1 Publication
VAR_071814
Natural varianti285 – 2851D → Y in EIEE4. 1 Publication
VAR_071815
Natural varianti443 – 4431M → R in EIEE4; may alter protein structure. 1 Publication
VAR_046207
Natural varianti445 – 4451H → P in EIEE4. 1 Publication
VAR_071816
Natural varianti544 – 5441G → D in EIEE4; may alter protein structure. 1 Publication
VAR_046208

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei576 – 59419QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2. 1 PublicationVSP_006713Add
BLAST

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. [P61764-2]
uc004brl.2. human.

Polymorphism databases

DMDMi50403646.

Keywords - Coding sequence diversityi

Alternative splicing

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 .
AL162426 Genomic DNA. Translation: CAI41180.1 .
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 ]
UniGenei Hs.288229.

3D structure databases

ProteinModelPortali P61764.
SMRi P61764. Positions 4-592.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112681. 31 interactions.
IntActi P61764. 5 interactions.
MINTi MINT-125987.
STRINGi 9606.ENSP00000362399.

PTM databases

PhosphoSitei P61764.

Polymorphism databases

DMDMi 50403646.

Proteomic databases

MaxQBi P61764.
PaxDbi P61764.
PRIDEi P61764.

Protocols and materials databases

DNASUi 6812.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373299 ; ENSP00000362396 ; ENSG00000136854 . [P61764-1 ]
ENST00000373302 ; ENSP00000362399 ; ENSG00000136854 . [P61764-2 ]
GeneIDi 6812.
KEGGi hsa:6812.
UCSCi uc004brk.2. human. [P61764-2 ]
uc004brl.2. human.

Organism-specific databases

CTDi 6812.
GeneCardsi GC09P130374.
HGNCi HGNC:11444. STXBP1.
HPAi CAB034434.
HPA008209.
HPA023483.
MIMi 602926. gene.
612164. phenotype.
neXtProti NX_P61764.
Orphaneti 33069. Dravet syndrome.
1934. Early infantile epileptic encephalopathy.
PharmGKBi PA36241.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5158.
GeneTreei ENSGT00390000005206.
HOGENOMi HOG000232146.
HOVERGENi HBG052710.
InParanoidi P61764.
KOi K15292.
OMAi LIQDYCV.
OrthoDBi EOG78PV8M.
PhylomeDBi P61764.
TreeFami TF313242.

Enzyme and pathway databases

Reactomei REACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin Neurotransmitter Release Cycle.
REACT_18325. Regulation of insulin secretion.
REACT_23947. GABA synthesis, release, reuptake and degradation.

Miscellaneous databases

ChiTaRSi STXBP1. human.
GeneWikii STXBP1.
GenomeRNAii 6812.
NextBioi 26583.
PROi P61764.
SOURCEi Search...

Gene expression databases

Bgeei P61764.
CleanExi HS_STXBP1.
ExpressionAtlasi P61764. baseline and differential.
Genevestigatori P61764.

Family and domain databases

Gene3Di 3.40.50.1910. 2 hits.
InterProi IPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view ]
PANTHERi PTHR11679. PTHR11679. 1 hit.
Pfami PF00995. Sec1. 1 hit.
[Graphical view ]
PIRSFi PIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMi SSF56815. SSF56815. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544.
  10. Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.

Entry informationi

Entry nameiSTXB1_HUMAN
AccessioniPrimary (citable) accession number: P61764
Secondary accession number(s): B1AM97
, Q28208, Q62759, Q64320, Q96TG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: November 26, 2014
This is version 109 of the entry and version 1 of the sequence. [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

External Data

Dasty 3