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-termina... See more...

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
  • Syntaxin-1A 3 4
  • 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 Leukodystrophy, Hypomyelinating, 6. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Synaptic vesicle cycle. Gene Ontology (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 Summary for STX1A Gene

  • Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Plays also an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity).

Gene Wiki entry for STX1A Gene

Additional gene information for STX1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STX1A Gene

Genomics for STX1A Gene

GeneHancer (GH) Regulatory Elements for STX1A Gene

Promoters and enhancers for STX1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J073715 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.0 2048 5.1 EP300 ZNF217 NRF1 TCF12 NCOR1 PHF8 JUND PHB2 FOS ZNF639 STX1A VPS37D TBL2 BCL7B LAT2 RF00017-6322 RF00017-6319
GH07J073721 Enhancer 0.9 Ensembl ENCODE dbSUPER 506.2 -1.9 -1898 1.2 ZNF341 ZFHX2 CTCF TBP RAD21 RXRA HNF4A EGR2 HNRNPL SP1 STX1A AC073846 RF00017-6319
GH07J073612 Enhancer 1.2 Ensembl ENCODE 13.1 +106.2 106220 2.6 EP300 FOXK2 CTCF TCF12 POLR2G NCOR1 PHB2 ZIC2 KDM6A ZBTB10 ENSG00000274080 RF00017-6318 BCL7B STX1A VPS37D BUD23 DNAJC30 TBL2 RNU6-1198P METTL27
GH07J073606 Promoter/Enhancer 1.1 Ensembl ENCODE 13.1 +112.3 112302 0.8 CTCF POLR2G REST RAD21 ZBTB7A TRIM22 SMC3 RBM25 ZFP36 YY1 MIR590 POM121 NSUN5P2 STAG3L3 POM121B STX1A GTF2IRD2P1 VPS37D BUD23 DNAJC30
GH07J073608 Enhancer 0.6 Ensembl 13.1 +111.1 111101 0.4 POLR2G CEBPB FOXP1 RXRA GLIS1 NR2F6 HNF4A NR2F1 CEBPG GATAD2A MLXIPL STX1A VPS37D DNAJC30 BUD23 TBL2 RNU6-1198P ENSG00000274080 lnc-TBL2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STX1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STX1A

Top Transcription factor binding sites by QIAGEN in the STX1A gene promoter:
  • AP-1
  • ATF-2
  • ATF6
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • NF-kappaB1

Genomic Locations for STX1A Gene

Genomic Locations for STX1A Gene
chr7:73,699,205-73,719,702
(GRCh38/hg38)
Size:
20,498 bases
Orientation:
Minus strand
chr7:73,113,535-73,134,017
(GRCh37/hg19)
Size:
20,483 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:
    • Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A; this complex constitutes the basic catalytic machinery of the complex neurotransmitter release apparatus (PubMed:26635000). The SNARE complex interacts with CPLX1 (By similarity). Interacts with STXBP1 (PubMed:12730201, PubMed:26635000). 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). Interacts with SYTL4 (By similarity). Interacts with STXBP6 (By similarity). Interacts with PLCL1 (via C2 domain) (By similarity). Interacts with OTOF (By similarity). Interacts with LGI3 (By similarity). Interacts with SLC6A4 (By similarity). Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Interacts with VAMP8 (PubMed:12130530). Interacts with SNAP23 (PubMed:12130530). Interacts with VAPA and SYBU (PubMed:15459722). Interacts with PRRT2 (By similarity). Interacts with SEPT8 (By similarity). Interacts with STXBP5L (By similarity). Interacts with synaptotagmin-1/SYT1 (By similarity).
    Miscellaneous:
    • [Isoform 2]: Expression is up-regulated by phorbol 12-myristate 13-acetate (PMA), but not by forskolin.
    SequenceCaution:
    • Sequence=AAA20940.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for STX1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STX1A Gene

Post-translational modifications for STX1A Gene

  • Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with STXBP1.
  • Sumoylated, sumoylation is required for regulation of synaptic vesicle endocytosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STX1A Gene

Antibody Products

No data available for DME Specific Peptides for STX1A Gene

Domains & Families for STX1A Gene

Gene Families for STX1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for STX1A Gene

Blocks:
  • Syntaxin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STX1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94630, Homo sapiens syntaxin 1A (brain) (STX1A), mRNA (Q75ME0_HUMAN)
  • Neuron-specific antigen HPC-1 (STX1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16623

UniProtKB/Swiss-Prot:

STX1A_HUMAN :
  • Belongs to the syntaxin family.
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

UniProtKB/Swiss-Prot Function:
Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Plays also an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity).
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

Phenotypes From GWAS Catalog for STX1A Gene

Gene Ontology (GO) - Molecular Function for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005484 SNAP receptor activity IBA 21873635
GO:0005515 protein binding IPI 10321247
GO:0017022 myosin binding IEA --
GO:0019855 calcium channel inhibitor activity 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1A

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STX1A gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,TAS 10099709
GO:0005887 integral component of plasma membrane IEA --
GO:0008021 synaptic vesicle IBA 21873635
genes like me logo Genes that share ontologies with STX1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STX1A Gene

Pathways & Interactions for STX1A Gene

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

Pathways by source for STX1A Gene

3 GeneGo (Thomson Reuters) pathways for STX1A Gene
  • Regulation of CFTR activity (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
1 Qiagen pathway for STX1A Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for STX1A Gene

SIGNOR curated interactions for STX1A Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for STX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001956 positive regulation of neurotransmitter secretion IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IBA 21873635
GO:0006906 vesicle fusion IBA 21873635
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

mRNA/cDNA for STX1A Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1A

Clone Products

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

Expression for STX1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for STX1A Gene



Protein tissue co-expression partners for STX1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STX1A

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.

Evidence on tissue expression from TISSUES for STX1A Gene

  • Nervous system(5)
  • Lung(4.1)
  • Intestine(2.6)
  • Pancreas(2.5)
  • Adrenal gland(2.3)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STX1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • bronchus
  • heart
  • lung
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • testicle
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with STX1A: view

Orthologs for STX1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STX1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STX1A 31 30
  • 99.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STX1A 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STX1A 31 30
  • 91.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stx1a 30
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Stx1a 17 31 30
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia STX1A 31 30
  • 87.92 (n)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 83 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia STX1A 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx1a 30
  • 80.9 (n)
zebrafish
(Danio rerio)
Actinopterygii stx1a 31
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syx1A 31 32 30
  • 71.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007698 30
  • 65.25 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-64 31 30
  • 62.55 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL139W 30
  • 49.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSO2 33 30
  • 47.65 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15961g 30
  • 45.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SYP132 30
  • 45.16 (n)
rice
(Oryza sativa)
Liliopsida Os06g0168500 30
  • 47.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04244 30
  • 44.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psy1 30
  • 40.94 (n)
Species where no ortholog for STX1A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STX1A: view image

Paralogs for STX1A Gene

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

  • STX1A_HUMAN
  • A8MZ54_HUMAN
  • Q75ME0_HUMAN
genes like me logo Genes that share paralogs with STX1A: view

Variants for STX1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STX1A Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
741323 Likely Benign: not provided 73,700,490(-) T/C INTRON_VARIANT
762294 Likely Benign: not provided 73,704,365(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for STX1A Gene

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

Variant ID Type Subtype PubMed ID
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

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)

Additional Variant Information for STX1A Gene

Human Gene Mutation Database (HGMD)
STX1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STX1A

SNP Genotyping and Copy Number Assay Products

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

Disorders for STX1A Gene

MalaCards: The human disease database

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

- 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}.

Additional Disease Information for STX1A

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

No data available for Genatlas for STX1A Gene

Publications for STX1A Gene

  1. Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study. (PMID: 20385907) Lemos C … Sousa A (Archives of neurology 2010) 3 23 41 54
  2. 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 (Neuroscience letters 2009) 3 23 41 54
  3. No association between tagging SNPs of SNARE complex genes (STX1A, VAMP2 and SNAP25) and schizophrenia in a Japanese population. (PMID: 18512733) Kawashima K … Iwata N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 23 41 54
  4. Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism. (PMID: 18593506) Nakamura K … Mori N (The international journal of neuropsychopharmacology 2008) 3 23 41 54
  5. Search for genetic variants of the SYNTAXIN 1A (STX1A) gene: the -352 A>T variant in the STX1A promoter associates with impaired glucose metabolism in an Italian obese population. (PMID: 17912268) Romeo S … Baroni MG (International journal of obesity (2005) 2008) 3 23 41 54

Products for STX1A Gene

Sources for STX1A Gene