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    STXBP1 syntaxin binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 6812, updated on 4-Feb-2024

    Summary

    Official Symbol
    STXBP1provided by HGNC
    Official Full Name
    syntaxin binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:11444
    See related
    Ensembl:ENSG00000136854 MIM:602926; AllianceGenome:HGNC:11444
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1
    Summary
    This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in brain (RPKM 151.7), adrenal (RPKM 16.3) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STXBP1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127611912..127696029)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139818871..139902984)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130374191..130458308)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902276 Neighboring gene uncharacterized LOC124902277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130360792-130361311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130370589-130371088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130395219-130396018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29044 Neighboring gene VISTA enhancer hs2342 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:130463106-130463614 Neighboring gene microRNA 3911 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130476687-130477343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29047 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130478240-130478416 Neighboring gene cilia and flagella associated protein 157 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130480462-130480664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130488893-130489394 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene torsin family 2 member A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 4 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-06-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of syntaxin binding protein 1 (STXBP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies STXBP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
    Tat tat HIV-1 Tat downregulates the expression of syntaxin binding protein 1 (STXBP1) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37475

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables SNARE binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables syntaxin-1 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in SNARE complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axon target recognition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental process involved in reproduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in long-term synaptic depression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glutamate secretion, neurotransmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vesicle docking IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in presynaptic dense core vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of SNARE complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of acrosomal vesicle exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of synaptic vesicle priming ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic vesicle priming IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle docking involved in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle docking involved in exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extrinsic component of presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in platelet alpha granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone cytoplasmic component IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    syntaxin-binding protein 1
    Names
    neuronal SEC1
    protein unc-18 homolog 1
    protein unc-18 homolog A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016623.2 RefSeqGene

      Range
      5367..85789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032221.6NP_001027392.1  syntaxin-binding protein 1 isoform b

      See identical proteins and their annotated locations for NP_001027392.1

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS35146.1
      UniProtKB/Swiss-Prot
      B1AM97, P61764, Q28208, Q62759, Q64320, Q68CM6, Q96TG8
      UniProtKB/TrEMBL
      B7Z1V5
      Related
      ENSP00000362396.2, ENST00000373299.5
      Conserved Domains (1) summary
      pfam00995
      Location:29575
      Sec1; Sec1 family
    2. NM_001374306.2NP_001361235.1  syntaxin-binding protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL162426
      UniProtKB/TrEMBL
      B7Z1V5
      Conserved Domains (1) summary
      pfam00995
      Location:29572
      Sec1; Sec1 family
    3. NM_001374307.2NP_001361236.1  syntaxin-binding protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94488.1
      UniProtKB/TrEMBL
      A0A1B0GTP9, B7Z2V7
      Related
      ENSP00000489791.1, ENST00000637521.2
      Conserved Domains (1) summary
      pfam00995
      Location:15565
      Sec1; Sec1 family
    4. NM_001374308.2NP_001361237.1  syntaxin-binding protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94488.1
      UniProtKB/TrEMBL
      A0A1B0GTP9, B7Z2V7
      Related
      ENSP00000498834.1, ENST00000650920.1
      Conserved Domains (1) summary
      pfam00995
      Location:15565
      Sec1; Sec1 family
    5. NM_001374309.2NP_001361238.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SG72, B7Z1V5
      Related
      ENSP00000487211.2, ENST00000626539.3
      Conserved Domains (1) summary
      pfam00995
      Location:15561
      Sec1; Sec1 family
    6. NM_001374310.2NP_001361239.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SG72, B7Z1V5
      Related
      ENSP00000490519.1, ENST00000637173.2
      Conserved Domains (1) summary
      pfam00995
      Location:15561
      Sec1; Sec1 family
    7. NM_001374311.2NP_001361240.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SG72, B7Z1V5
      Related
      ENSP00000515991.1, ENST00000704680.1
      Conserved Domains (1) summary
      pfam00995
      Location:15561
      Sec1; Sec1 family
    8. NM_001374312.2NP_001361241.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SG72, B7Z1V5
      Conserved Domains (1) summary
      pfam00995
      Location:15561
      Sec1; Sec1 family
    9. NM_001374313.2NP_001361242.1  syntaxin-binding protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94486.1
      UniProtKB/TrEMBL
      A0A1B0GVQ5, A0A2R8Y5D4
      Related
      ENSP00000490613.1, ENST00000637953.1
      Conserved Domains (1) summary
      pfam00995
      Location:29568
      Sec1; Sec1 family
    10. NM_001374314.1NP_001361243.1  syntaxin-binding protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94487.1
      UniProtKB/TrEMBL
      A0A1B0GWF2, A0A2R8Y5D4
      Related
      ENSP00000489762.1, ENST00000636962.2
      Conserved Domains (1) summary
      pfam00995
      Location:29567
      Sec1; Sec1 family
    11. NM_001374315.2NP_001361244.1  syntaxin-binding protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL162426
      UniProtKB/TrEMBL
      B7Z2V7
      Conserved Domains (1) summary
      pfam00995
      Location:29539
      Sec1; Sec1 family
    12. NM_003165.6NP_003156.1  syntaxin-binding protein 1 isoform a

      See identical proteins and their annotated locations for NP_003156.1

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS6874.1
      UniProtKB/TrEMBL
      B7Z2V7
      Related
      ENSP00000362399.3, ENST00000373302.8
      Conserved Domains (1) summary
      pfam00995
      Location:29575
      Sec1; Sec1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127611912..127696029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      139818871..139902984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)