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

    Gene ID: 6812, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See STXBP1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127611912..127696029)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139818871..139902984)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Di Meglio C, et al. Epilepsia, 2015 Dec. PMID 26514728
    2. [Clinical and genetic characteristics of children with STXBP1 encephalopathy]. Cao JJ, et al. Zhonghua Er Ke Za Zhi, 2020 Jun 2. PMID 32521962
    3. Membrane Location of Syntaxin-Binding Protein 1 Is Correlated with Poor Prognosis of Lung Adenocarcinoma. Wang X, et al. Tohoku J Exp Med, 2020 Apr. PMID 32321873
    4. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. Al Mehdi K, et al. Biomed Res Int, 2019. PMID 31976320, Free PMC Article
    5. STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics. O'Brien S, et al. J Neurodev Disord, 2019 Aug 6. PMID 31387522, Free PMC Article

    See all (166) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
      Title: Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
    2. Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
      Title: Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
    3. Early life seizures and epileptic spasms in STXBP1-related disorders.
      Title: Early life seizures and epileptic spasms in STXBP1-related disorders.
    4. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
      Title: Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
    5. The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
      Title: The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
    6. Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
      Title: Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
    7. Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
      Title: Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
    8. An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
      Title: An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
    9. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
      Title: Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
    10. Assessing the landscape of STXBP1-related disorders in 534 individuals.
      Title: Assessing the landscape of STXBP1-related disorders in 534 individuals.
    Submit: New GeneRIF Correction See all GeneRIFs (78)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 4
    MedGen: C2677326 OMIM: 612164 GeneReviews: STXBP1 Encephalopathy with Epilepsy
    		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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    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 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

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

    NCBI Reference Sequences (RefSeq)

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    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_001032221.6 → NP_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:29 → 575
      Sec1; Sec1 family

    2. NM_001374306.2 → NP_001361235.1  syntaxin-binding protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL162426
      UniProtKB/TrEMBL
      B7Z1V5
      Conserved Domains (1) summary
      pfam00995
      Location:29 → 572
      Sec1; Sec1 family

    3. NM_001374307.2 → NP_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:15 → 565
      Sec1; Sec1 family

    4. NM_001374308.2 → NP_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:15 → 565
      Sec1; Sec1 family

    5. NM_001374309.2 → NP_001361238.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5
      Related
      ENSP00000487211.2, ENST00000626539.3
      Conserved Domains (1) summary
      pfam00995
      Location:15 → 561
      Sec1; Sec1 family

    6. NM_001374310.2 → NP_001361239.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5
      Related
      ENSP00000490519.1, ENST00000637173.2
      Conserved Domains (1) summary
      pfam00995
      Location:15 → 561
      Sec1; Sec1 family

    7. NM_001374311.2 → NP_001361240.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5
      Related
      ENSP00000515991.1, ENST00000704680.1
      Conserved Domains (1) summary
      pfam00995
      Location:15 → 561
      Sec1; Sec1 family

    8. NM_001374312.2 → NP_001361241.1  syntaxin-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94489.1
      UniProtKB/TrEMBL
      A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5
      Conserved Domains (1) summary
      pfam00995
      Location:15 → 561
      Sec1; Sec1 family

    9. NM_001374313.2 → NP_001361242.1  syntaxin-binding protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94486.1
      UniProtKB/TrEMBL
      A0A1B0GVQ5, A0A2R8Y5D4, A0AAQ5BGW4
      Related
      ENSP00000490613.1, ENST00000637953.1
      Conserved Domains (1) summary
      pfam00995
      Location:29 → 568
      Sec1; Sec1 family

    10. NM_001374314.1 → NP_001361243.1  syntaxin-binding protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS94487.1
      UniProtKB/TrEMBL
      A0A1B0GWF2, A0A2R8Y5D4, A0AAQ5BGW4
      Related
      ENSP00000489762.1, ENST00000636962.2
      Conserved Domains (1) summary
      pfam00995
      Location:29 → 567
      Sec1; Sec1 family

    11. NM_001374315.2 → NP_001361244.1  syntaxin-binding protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL162426
      UniProtKB/TrEMBL
      B7Z2V7
      Conserved Domains (1) summary
      pfam00995
      Location:29 → 539
      Sec1; Sec1 family

    12. NM_003165.6 → NP_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:29 → 575
      Sec1; Sec1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61764.1 GenPept UniProtKB/Swiss-Prot:P61764

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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