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STX1A syntaxin 1A [ Homo sapiens (human) ]

Gene ID: 6804, updated on 2-Oct-2018

Summary

Official Symbol
STX1Aprovided by HGNC
Official Full Name
syntaxin 1Aprovided by HGNC
Primary source
HGNC:HGNC:11433
See related
Ensembl:ENSG00000106089 MIM:186590; Vega:OTTHUMG00000137422
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
STX1; HPC-1; P35-1; SYN1A
Summary
This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression
Biased expression in brain (RPKM 28.2), bone marrow (RPKM 2.7) and 3 other tissues See more
Orthologs

Genomic context

See STX1A in Genome Data Viewer
Location:
7q11.23
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73699205..73719687, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73113535..73134032, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene BUD23, rRNA methyltransferase and ribosome maturation factor Neighboring gene uncharacterized LOC105375350 Neighboring gene microRNA 4284 Neighboring gene RNA, 7SL, cytoplasmic 265, pseudogene Neighboring gene ABHD11 antisense RNA 1 (tail to tail)

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?

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...
  • Amphetamine addiction, organism-specific biosystem (from KEGG)
    Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Amphetamine addiction, conserved biosystem (from KEGG)
    Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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...
  • 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 ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Insulin processing, organism-specific biosystem (from REACTOME)
    Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • 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...
  • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
    LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
  • 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...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Monoamine Transport, organism-specific biosystem (from WikiPathways)
    Monoamine Transport, organism-specific biosystem
    Monoamine Transport
  • 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...
  • Neurotoxicity of clostridium toxins, organism-specific biosystem (from REACTOME)
    Neurotoxicity of clostridium toxins, organism-specific biosystemClostridial neurotoxins, when taken up by human neurons, block synaptic transmission by cleaving proteins required for the fusion of synaptic vesicles with the plasma membrane. They are remarkably ef...
  • 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...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • 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...
  • SNARE interactions in vesicular transport, organism-specific biosystem (from KEGG)
    SNARE interactions in vesicular transport, organism-specific biosystem
    SNARE interactions in vesicular transport
  • SNARE interactions in vesicular transport, conserved biosystem (from KEGG)
    SNARE interactions in vesicular transport, conserved biosystem
    SNARE interactions in vesicular transport
  • 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...
  • Serotonin Transporter Activity, organism-specific biosystem (from WikiPathways)
    Serotonin Transporter Activity, organism-specific biosystem
    Serotonin Transporter Activity
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • 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. ...
  • Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystemBotulinum toxin type C (BoNT/C) is only very rarely associated with human disease (Hatheway 1995) and a pathway by which it might enter the circulation from the human gut has not been described. Neve...
  • 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,...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
chloride channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
myosin head/neck 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 binding, bridging IEA
Inferred from Electronic Annotation
more info
 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
SNARE complex assembly IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of calcium ion-dependent exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of catecholamine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of norepinephrine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
PubMed 
regulation of synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
response to gravity IEA
Inferred from Electronic Annotation
more info
 
secretion by cell IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle docking IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle fusion to presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE complex IDA
Inferred from Direct Assay
more info
PubMed 
SNARE complex TAS
Traceable Author Statement
more info
PubMed 
actomyosin IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptobrevin 2-SNAP-25-syntaxin-1a complex IEA
Inferred from Electronic Annotation
more info
 
synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex IEA
Inferred from Electronic Annotation
more info
 
synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
syntaxin-1A
Names
neuron-specific antigen HPC-1
syntaxin 1A (brain)

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_013360.1 RefSeqGene

    Range
    5001..25483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165903.1NP_001159375.1  syntaxin-1A isoform 2

    See identical proteins and their annotated locations for NP_001159375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 3' coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AI951874, BC000444, BC064644, DA159446
    Consensus CDS
    CCDS55120.1
    UniProtKB/Swiss-Prot
    Q16623
    Related
    ENSP00000378585.3, OTTHUMP00000174616, ENST00000395156.7, OTTHUMT00000268423
    Conserved Domains (1) summary
    pfam00804
    Location:30226
    Syntaxin; Syntaxin
  2. NM_004603.3NP_004594.1  syntaxin-1A isoform 1

    See identical proteins and their annotated locations for NP_004594.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI951874, BC003011, BC064644, DA159446
    Consensus CDS
    CCDS34655.1
    UniProtKB/Swiss-Prot
    Q16623
    UniProtKB/TrEMBL
    Q75ME0
    Related
    ENSP00000222812.3, OTTHUMP00000174615, ENST00000222812.7, OTTHUMT00000268422
    Conserved Domains (2) summary
    pfam00804
    Location:30227
    Syntaxin; Syntaxin
    pfam05739
    Location:228279
    SNARE; SNARE domain

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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    73699205..73719687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012567.2XP_016868056.1  syntaxin-1A isoform X1

RNA

  1. XR_242263.2 RNA Sequence

  2. XR_927527.2 RNA Sequence

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