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

Gene ID: 6812, updated on 7-Apr-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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China. Kessi M, et al. BMC Med Genomics, 2023 Mar 7. PMID 36882827, Free PMC Article
  2. An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1. Feringa FM, et al. J Neurosci, 2023 Jan 18. PMID 36517239, Free PMC Article
  3. Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy. McLeod F, et al. Brain, 2023 Mar 1. PMID 36315647, Free PMC Article
  4. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Stamberger H, et al. Neurology, 2022 Jul 19. PMID 35851549, Free PMC Article
  5. Assessing the landscape of STXBP1-related disorders in 534 individuals. Xian J, et al. Brain, 2022 Jun 3. PMID 35190816, Free PMC Article

See all (152) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Early life seizures and epileptic spasms in STXBP1-related disorders.
    Title: Early life seizures and epileptic spasms in STXBP1-related disorders.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
    Title: Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
  8. Assessing the landscape of STXBP1-related disorders in 534 individuals.
    Title: Assessing the landscape of STXBP1-related disorders in 534 individuals.
  9. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
    Title: Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
  10. Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
    Title: Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Submit: New GeneRIF Correction See all GeneRIFs (76)

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
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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 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

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

Gene LinkOut

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