Human Gene STXBP1 (ENST00000476182.3) Description and Page Index
  Description: syntaxin binding protein 1 (from HGNC STXBP1)
RefSeq Summary (NM_001032221): 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 :: AF004562.1, D63851.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000476182.3
Gencode Gene: ENSG00000136854.21
Transcript (Including UTRs)
   Position: hg38 chr9:127,612,361-127,613,751 Size: 1,391 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr9:127,612,404-127,613,297 Size: 894 Coding Exon Count: 2 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:127,612,361-127,613,751)mRNA (may differ from genome)Protein (22 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: STXBP1
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 4* (1331), epileptic encephalopathy, early infantile, 15* (544), stxbp1 encephalopathy with epilepsy* (400), west syndrome* (300), epileptic encephalopathy, early infantile, 6* (130), encephalopathy (20), infantile epileptic encephalopathy (16), neonatal period electroclinical syndrome (9), neuronal intranuclear inclusion disease (8), leukodystrophy, hypomyelinating, 6 (6), infancy electroclinical syndrome (5), bardet-biedl syndrome 17 (5), autosomal dominant non-syndromic intellectual disability (3), mitochondrial complex i deficiency (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 266.55 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1963.27 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.4043-0.288 Picture PostScript Text
3' UTR -148.60454-0.327 Picture PostScript Text

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Descriptions from all associated GenBank mRNAs
  AK295154 - Homo sapiens cDNA FLJ54602 complete cds, highly similar to Syntaxin-binding protein 1.
AK295802 - Homo sapiens cDNA FLJ55070 complete cds, highly similar to Syntaxin-binding protein 1.
AK293984 - Homo sapiens cDNA FLJ55678 complete cds, highly similar to Syntaxin-binding protein 1.
AF004562 - Homo sapiens hUNC18a alternatively-spliced mRNA, complete cds.
AF004563 - Homo sapiens hUNC18b alternatively-spliced mRNA, complete cds.
BC015749 - Homo sapiens syntaxin binding protein 1, mRNA (cDNA clone MGC:23061 IMAGE:4868854), complete cds.
Y12723 - H.sapiens mRNA for STXBP1 protein.
D63851 - Homo sapiens mRNA for unc-18 homologue, complete cds.
DQ895426 - Synthetic construct Homo sapiens clone IMAGE:100009886; FLH184287.01L; RZPDo839E03143D syntaxin binding protein 1 (STXBP1) gene, encodes complete protein.
EU176334 - Synthetic construct Homo sapiens clone IMAGE:100006444; FLH184294.01X; RZPDo839A08251D syntaxin binding protein 1 (STXBP1) gene, encodes complete protein.
CU677423 - Synthetic construct Homo sapiens gateway clone IMAGE:100019922 5' read STXBP1 mRNA.
KJ892224 - Synthetic construct Homo sapiens clone ccsbBroadEn_01618 STXBP1 gene, encodes complete protein.
KR710536 - Synthetic construct Homo sapiens clone CCSBHm_00013916 STXBP1 (STXBP1) mRNA, encodes complete protein.
KR710537 - Synthetic construct Homo sapiens clone CCSBHm_00013917 STXBP1 (STXBP1) mRNA, encodes complete protein.
KR710538 - Synthetic construct Homo sapiens clone CCSBHm_00013918 STXBP1 (STXBP1) mRNA, encodes complete protein.
KR710539 - Synthetic construct Homo sapiens clone CCSBHm_00013919 STXBP1 (STXBP1) mRNA, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1B0GUQ2, AK295154, uc064vwb.1, uc064vwb.2
UCSC ID: uc064vwb.2
RefSeq Accession: NM_001032221

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene STXBP1:
stxbp1-ee (STXBP1 Encephalopathy with Epilepsy)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.