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

Gene ID: 6812, updated on 22-Jan-2020

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; 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

Genomic context

See STXBP1 in Genome Data Viewer
Location:
9q34.11
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127611912..127696029)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130374486..130454995)

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

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
    ENSP00000362396.1, ENST00000373299.4
    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
  3. NM_001374307.2NP_001361236.1  syntaxin-binding protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL162426
    Related
    ENSP00000489791.1, ENST00000637521.2
  4. NM_001374308.2NP_001361237.1  syntaxin-binding protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL162426
    Related
    ENSP00000498834.1, ENST00000650920.1
  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
  10. NM_001374314.1NP_001361243.1  syntaxin-binding protein 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL162426
    Related
    ENSP00000489762.1, ENST00000636962.2
  11. NM_001374315.2NP_001361244.1  syntaxin-binding protein 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL162426
  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, ENST00000373302.7
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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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