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P61764

- STXB1_HUMAN

UniProt

P61764 - STXB1_HUMAN

Protein

Syntaxin-binding protein 1

Gene

STXBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (07 Jun 2004)
      Previous versions | rss
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    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 synaptic vesicle priming Source: UniProtKB
    16. small molecule metabolic process Source: Reactome
    17. synaptic transmission Source: Reactome
    18. synaptic vesicle maturation Source: UniProtKB
    19. vesicle docking involved in exocytosis Source: Ensembl

    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

    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.1 Publication
    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 varianti443 – 4431M → R in EIEE4; may alter protein structure. 1 Publication
    VAR_046207
    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.
    Orphaneti1934. 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

    ArrayExpressiP61764.
    BgeeiP61764.
    CleanExiHS_STXBP1.
    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. 21 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.
    HOGENOMiHOG000232146.
    HOVERGENiHBG052710.
    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

    MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI    50
    MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR 100
    AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA 150
    DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL 200
    LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ 250
    AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 300
    QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL 350
    AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS 400
    TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI 450
    VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP 500
    YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM 550
    RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS 594
    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 varianti443 – 4431M → R in EIEE4; may alter protein structure. 1 Publication
    VAR_046207
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 21 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 1934. Early infantile epileptic encephalopathy.
    PharmGKBi PA36241.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5158.
    HOGENOMi HOG000232146.
    HOVERGENi HBG052710.
    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

    ArrayExpressi P61764.
    Bgeei P61764.
    CleanExi HS_STXBP1.
    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

    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: VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544.

    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: October 1, 2014
    This is version 107 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