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Aliases for STX1A Gene

Aliases for STX1A Gene

  • Syntaxin 1A 2 3 5
  • Neuron-Specific Antigen HPC-1 3 4
  • Syntaxin 1A (Brain) 2 3
  • STX1 3 4
  • HPC-1 3
  • P35-1 3
  • SYN1A 3

External Ids for STX1A Gene

Previous HGNC Symbols for STX1A Gene

  • STX1

Previous GeneCards Identifiers for STX1A Gene

  • GC07M071753
  • GC07M072511
  • GC07M072525
  • GC07M072500
  • GC07M072558
  • GC07M072751
  • GC07M073113
  • GC07M068995

Summaries for STX1A Gene

Entrez Gene Summary for STX1A Gene

  • 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]

GeneCards Summary for STX1A Gene

STX1A (Syntaxin 1A) is a Protein Coding gene. Diseases associated with STX1A include cystic fibrosis and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Amphetamine addiction and Insulin secretion. GO annotations related to this gene include protein heterodimerization activity and protein N-terminus binding. An important paralog of this gene is STX1B.

UniProtKB/Swiss-Prot for STX1A Gene

  • Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.

Gene Wiki entry for STX1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX1A Gene

Genomics for STX1A Gene

Regulatory Elements for STX1A Gene

Enhancers for STX1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STX1A on UCSC Golden Path with GeneCards custom track

Promoters for STX1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STX1A on UCSC Golden Path with GeneCards custom track

Genomic Location for STX1A Gene

Chromosome:
7
Start:
73,699,205 bp from pter
End:
73,719,702 bp from pter
Size:
20,498 bases
Orientation:
Minus strand

Genomic View for STX1A Gene

Genes around STX1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX1A Gene

Proteins for STX1A Gene

  • Protein details for STX1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16623-STX1A_HUMAN
    Recommended name:
    Syntaxin-1A
    Protein Accession:
    Q16623
    Secondary Accessions:
    • O15447
    • O15448
    • Q12936
    • Q75MD9
    • Q7Z5K3
    • Q9BPZ6

    Protein attributes for STX1A Gene

    Size:
    288 amino acids
    Molecular mass:
    33023 Da
    Quaternary structure:
    • Interacts (via C-terminus) with KCNB1 (via C-terminus); the interaction increases in a calcium-dependent manner and induces a pore-independent enhancement of exocytosis in neuroendocrine cells, chromaffin cells, pancreatic beta cells and from the soma of dorsal root ganglia (DRG) neurons (By similarity). Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Binds SYTL4 and STXBP6. Found in a ternary complex with STX1A and SNAP25. Interacts with OTOF and LGI3. Interacts with SLC6A4. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Found in a complex with VAMP8 and SNAP23. Interacts with VAPA and SYBU. Interacts with STXBP1 and DAPK1.
    SequenceCaution:
    • Sequence=AAA20940.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for STX1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STX1A Gene

Proteomics data for STX1A Gene at MOPED

Post-translational modifications for STX1A Gene

  • Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with STXBP1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STX1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for STX1A (STX1A)

No data available for DME Specific Peptides for STX1A Gene

Domains & Families for STX1A Gene

Gene Families for STX1A Gene

Protein Domains for STX1A Gene

Suggested Antigen Peptide Sequences for STX1A Gene

Graphical View of Domain Structure for InterPro Entry

Q16623

UniProtKB/Swiss-Prot:

STX1A_HUMAN :
  • Contains 1 t-SNARE coiled-coil homology domain.
  • Belongs to the syntaxin family.
Domain:
  • Contains 1 t-SNARE coiled-coil homology domain.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX1A: view

Function for STX1A Gene

Molecular function for STX1A Gene

GENATLAS Biochemistry:
syntaxin 1A,expressed in the nervous system at the early stage of embryogenesis,strongly related to the cognitive processes,forming a synaptic core complex with synaptosome associated proteins and synaptobrevin,binding to N-type Ca2+ channels,involved in the intracellular membrane transport and exocytosis process of neurotransmitters,deleted in Williams syndrome,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein
UniProtKB/Swiss-Prot Function:
Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.

Gene Ontology (GO) - Molecular Function for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0019855 calcium channel inhibitor activity IEA --
GO:0019900 kinase binding IPI 12730201
GO:0019904 protein domain specific binding IEA --
GO:0030674 protein binding, bridging IEA --
genes like me logo Genes that share ontologies with STX1A: view
genes like me logo Genes that share phenotypes with STX1A: view

Human Phenotype Ontology for STX1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STX1A Gene

MGI Knock Outs for STX1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for STX1A

miRNA for STX1A Gene

miRTarBase miRNAs that target STX1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STX1A Gene

Localization for STX1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX1A Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type IV membrane protein. Cell junction, synapse, synaptosome. Cell membrane. Note=Colocalizes with KCNB1 at the cell membrane. {ECO:0000250 UniProtKB:P32851}.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STX1A Gene COMPARTMENTS Subcellular localization image for STX1A gene
Compartment Confidence
cytosol 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 10099709
GO:0008021 synaptic vesicle IBA --
GO:0008076 colocalizes_with voltage-gated potassium channel complex ISS --
GO:0030141 secretory granule IEA --
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with STX1A: view

Pathways & Interactions for STX1A Gene

genes like me logo Genes that share pathways with STX1A: view

SIGNOR curated interactions for STX1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0009629 response to gravity IEA --
GO:0010807 regulation of synaptic vesicle priming IEA --
GO:0016081 synaptic vesicle docking IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with STX1A: view

Drugs & Compounds for STX1A Gene

(12) Drugs for STX1A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for STX1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STX1A: view

Transcripts for STX1A Gene

Unigene Clusters for STX1A Gene

Syntaxin 1A (brain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STX1A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - -
SP7: - -
SP8: - - -
SP9:
SP10:

Relevant External Links for STX1A Gene

GeneLoc Exon Structure for
STX1A
ECgene alternative splicing isoforms for
STX1A

Expression for STX1A Gene

mRNA expression in normal human tissues for STX1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STX1A Gene

This gene is overexpressed in Brain - Cortex (x8.5), Brain - Frontal Cortex (BA9) (x6.8), Brain - Anterior cingulate cortex (BA24) (x6.3), and Pituitary (x4.6).

Protein differential expression in normal tissues from HIPED for STX1A Gene

This gene is overexpressed in Frontal cortex (40.2) and Brain (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for STX1A Gene



SOURCE GeneReport for Unigene cluster for STX1A Gene Hs.647024

mRNA Expression by UniProt/SwissProt for STX1A Gene

Q16623-STX1A_HUMAN
Tissue specificity: Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum and cerebral cortex. Isoform 2 is expressed in heart, liver, fat, skeletal muscle, kidney and brain.
genes like me logo Genes that share expression patterns with STX1A: view

Protein tissue co-expression partners for STX1A Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for STX1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STX1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STX1A 35
  • 87.92 (n)
  • 91.64 (a)
STX1A 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STX1A 35
  • 91.97 (n)
  • 97.84 (a)
STX1A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stx1a 35
  • 91.2 (n)
  • 98.26 (a)
Stx1a 16
Stx1a 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STX1A 35
  • 99.77 (n)
  • 100 (a)
STX1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stx1a 35
  • 91.55 (n)
  • 98.61 (a)
oppossum
(Monodelphis domestica)
Mammalia STX1A 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 79 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia STX1A 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx1a 35
  • 80.9 (n)
  • 93.4 (a)
zebrafish
(Danio rerio)
Actinopterygii stx1a 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syx1A 37
  • 70 (a)
Syx1A 35
  • 71.17 (n)
  • 73.75 (a)
Syx1A 36
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007698 35
  • 65.25 (n)
  • 73.64 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-64 35
  • 62.55 (n)
  • 69.72 (a)
unc-64 36
  • 63 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL139W 35
  • 49.51 (n)
  • 34.32 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15961g 35
  • 45.83 (n)
  • 34.52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSO2 35
  • 47.65 (n)
  • 37.29 (a)
SSO2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SYP132 35
  • 45.16 (n)
  • 32.48 (a)
rice
(Oryza sativa)
Liliopsida Os06g0168500 35
  • 47.36 (n)
  • 30 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04244 35
  • 44.17 (n)
  • 23.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psy1 35
  • 40.94 (n)
  • 27.56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for STX1A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STX1A Gene

ENSEMBL:
Gene Tree for STX1A (if available)
TreeFam:
Gene Tree for STX1A (if available)

Paralogs for STX1A Gene

Paralogs for STX1A Gene

(10) SIMAP similar genes for STX1A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with STX1A: view

Variants for STX1A Gene

Sequence variations from dbSNP and Humsavar for STX1A Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs867500 -- 73,700,110(+) GGAAG(C/G)GTGGC nc-transcript-variant, utr-variant-3-prime
rs875342 -- 73,712,768(+) AAGGC(A/G)GCATC intron-variant
rs1049738 -- 73,699,938(-) AGGTG(A/G)CCCTG nc-transcript-variant, utr-variant-3-prime
rs6951030 -- 73,718,911(+) GCCAG(G/T)GCTGC intron-variant
rs6956879 -- 73,699,153(+) GAGAA(C/T)CCTCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for STX1A Gene

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv831028 CNV Loss 17160897
nsv469841 CNV Complex 16826518
nsv888371 CNV Loss 21882294

Variation tolerance for STX1A Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STX1A Gene

HapMap Linkage Disequilibrium report
STX1A
Human Gene Mutation Database (HGMD)
STX1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX1A Gene

Disorders for STX1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for STX1A Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search STX1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STX1A_HUMAN
  • Note=STX1A is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. {ECO:0000305 PubMed:9311751}.

Relevant External Links for STX1A

Genetic Association Database (GAD)
STX1A
Human Genome Epidemiology (HuGE) Navigator
STX1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STX1A
genes like me logo Genes that share disorders with STX1A: view

No data available for Genatlas for STX1A Gene

Publications for STX1A Gene

  1. Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism. (PMID: 18593506) Nakamura K. … Mori N. (Int. J. Neuropsychopharmacol. 2008) 3 23 48 67
  2. Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study. (PMID: 20385907) Lemos C. … Sousa A. (Arch. Neurol. 2010) 3 23
  3. Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. (PMID: 19004828) Ramakrishnan N.A. … Drescher D.G. (J. Biol. Chem. 2009) 3 23
  4. Homology with vesicle fusion mediator syntaxin-1a predicts determinants of epimorphin/syntaxin-2 function in mammary epithelial morphogenesis. (PMID: 19129200) Chen C.S. … Radisky D.C. (J. Biol. Chem. 2009) 3 23
  5. Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population. (PMID: 19368856) Corominas R. … Cormand B. (Neurosci. Lett. 2009) 3 23

Products for STX1A Gene

Sources for STX1A Gene

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