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

Gene ID: 6812, updated on 11-Nov-2018

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; Vega:OTTHUMG00000020713
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; RBSEC1; 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:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (127612207..127692716)
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 family with sequence similarity 129 member B Neighboring gene uncharacterized LOC105376281 Neighboring gene FAM129B intron CAGE-defined low expression enhancer 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystemAcetylcholine neurotransmitter release cycle involves syntheis of choline, loading of clathrin scultpted synaptic vesicles, docking and priming of the acetyl choline loaded synaptic vesicles and then...
  • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Effects of Botulinum toxin, organism-specific biosystem (from Pathway Interaction Database)
    Effects of Botulinum toxin, organism-specific biosystem
    Effects of Botulinum toxin
  • GABA synthesis, release, reuptake and degradation, organism-specific biosystem (from REACTOME)
    GABA synthesis, release, reuptake and degradation, organism-specific biosystemGABA is a major inhibitory neurotransmitter in the mammalian central nervous system. GABA modulates neuronal excitability throughout the nervous system. Disruption of GABA neurotransmission leads to ...
  • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
    Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystemNoradrenalin release cycle consists of reacidification of the empty clathrin sculpted monoamine transport vesicle, loading of dopamine into reacidified clathrin coated monamine transport vesicle, con...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
  • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
    Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
  • Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

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
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
 
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
 
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 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
 
myelin sheath IEA
Inferred from Electronic Annotation
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
N-Sec1
neuronal SEC1
protein unc-18 homolog 1
protein unc-18 homolog A
unc-18A
unc18-1

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
    5001..85510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032221.3NP_001027392.1  syntaxin-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_001027392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region that causes a frameshift, compared to variant 1. The resulting isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AF004562, DC325017
    Consensus CDS
    CCDS35146.1
    UniProtKB/Swiss-Prot
    P61764
    UniProtKB/TrEMBL
    Q68CM6
    Related
    ENSP00000362396.1, OTTHUMP00000022197, ENST00000373299.4, OTTHUMT00000054229
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family
  2. NM_003165.3NP_003156.1  syntaxin-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_003156.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF004563, DC325017
    Consensus CDS
    CCDS6874.1
    UniProtKB/Swiss-Prot
    P61764
    Related
    ENSP00000362399.3, OTTHUMP00000022196, ENST00000373302.7, OTTHUMT00000054228
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    127612207..127692716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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