Description: Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 2, mRNA. RefSeq Summary (NM_001165903): 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]. Transcript (Including UTRs) Position: hg19 chr7:73,113,535-73,134,017 Size: 20,483 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr7:73,114,802-73,133,961 Size: 19,160 Coding Exon Count: 10
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): STX1A CDC HuGE Published Literature: STX1A Positive Disease Associations: diabetes, type 2 Related Studies:
diabetes, type 2 Tsunoda, K. et al. 2001, Single nucleotide polymorphism (D68D, T to C) in the syntaxin 1A gene correlates to age at onset and insulin requirement in Type II diabetic patients, Diabetologia. 2001 Nov;44(11):2092-7.
[PubMed 11719842]
These data indicate that the SNP in the syntaxin 1A gene (D68D, T to C) correlates to the age of onset and insulin requirements of Type II diabetic
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00804 - Syntaxin PF14523 - Syntaxin-like protein
ModBase Predicted Comparative 3D Structure on Q16623-3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.