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

Gene ID: 6812, updated on 6-Sep-2021

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
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

See STXBP1 in Genome Data Viewer
Location:
9q34.11
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127611912..127696029)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130374191..130458308)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene niban apoptosis regulator 2 Neighboring gene FAM129B intron CAGE-defined low expression enhancer Neighboring gene Sharpr-MPRA regulatory region 10550 Neighboring gene VISTA enhancer hs2342 Neighboring gene microRNA 3911 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene cilia and flagella associated protein 157 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
Early infantile 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

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 N-terminus 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables syntaxin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 interferon-gamma 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
PubMed 
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 neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 cytoskeleton IEA
Inferred from Electronic Annotation
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 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 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
PubMed 
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 membrane 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
PubMed 

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_016623.1 RefSeqGene

    Range
    5071..85548
    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
    P61764
    UniProtKB/TrEMBL
    Q68CM6
    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
    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
    Related
    ENSP00000489791.1, ENST00000637521.2
    Conserved Domains (1) summary
    pfam00995
    Location:15561
    Sec1; Sec1 family
  4. NM_001374308.2NP_001361237.1  syntaxin-binding protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL162426
    Related
    ENSP00000498834.1, ENST00000650920.1
    Conserved Domains (1) summary
    pfam00995
    Location:15561
    Sec1; Sec1 family
  5. NM_001374309.2NP_001361238.1  syntaxin-binding protein 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL162426
    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
    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
    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
    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
    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
    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
    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/Swiss-Prot
    P61764
    Related
    ENSP00000362399.3, ENST00000373302.8
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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