Human Gene STXBP1 (ENST00000650920.1) Description and Page Index
Description: syntaxin binding protein 1 (from HGNC STXBP1) RefSeq Summary (NM_003165): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF004563.1, SRR3476690.553793.1 [ECO:0000332] ##Evidence-Data-END## Gencode Transcript: ENST00000650920.1 Gencode Gene: ENSG00000136854.21 Transcript (Including UTRs) Position: hg38 chr9:127,612,360-127,692,747 Size: 80,388 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr9:127,651,608-127,684,477 Size: 32,870 Coding Exon Count: 18
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.
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.