Human Gene STXBP1 (uc004brk.2)
  Description: Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.
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.
Transcript (Including UTRs)
   Position: hg19 chr9:130,374,486-130,454,995 Size: 80,510 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr9:130,374,683-130,446,756 Size: 72,074 Coding Exon Count: 19 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:130,374,486-130,454,995)mRNA (may differ from genome)Protein (603 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): STXBP1
CDC HuGE Published Literature: STXBP1

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -106.96197-0.543 Picture PostScript Text
3' UTR -593.391958-0.303 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.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00995 - Sec1 family

SCOP Domains:
56815 - Sec1/munc18-like (SM) proteins

ModBase Predicted Comparative 3D Structure on P61764-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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.
AB209180 - Homo sapiens mRNA for Syntaxin binding protein 1 variant protein.
JD025111 - Sequence 6135 from Patent EP1572962.
JD035028 - Sequence 16052 from Patent EP1572962.
JD379407 - Sequence 360431 from Patent EP1572962.
AK094794 - Homo sapiens cDNA FLJ37475 fis, clone BRAWH2012698.
JD308841 - Sequence 289865 from Patent EP1572962.
JD311288 - Sequence 292312 from Patent EP1572962.
JD390443 - Sequence 371467 from Patent EP1572962.
JD336229 - Sequence 317253 from Patent EP1572962.
JD528494 - Sequence 509518 from Patent EP1572962.
JD552676 - Sequence 533700 from Patent EP1572962.
JD296258 - Sequence 277282 from Patent EP1572962.
JD549231 - Sequence 530255 from Patent EP1572962.
JD238686 - Sequence 219710 from Patent EP1572962.
JD130344 - Sequence 111368 from Patent EP1572962.
JD531219 - Sequence 512243 from Patent EP1572962.
JD243547 - Sequence 224571 from Patent EP1572962.
JD229588 - Sequence 210612 from Patent EP1572962.
JD136393 - Sequence 117417 from Patent EP1572962.
JD157312 - Sequence 138336 from Patent EP1572962.
JD390507 - Sequence 371531 from Patent EP1572962.
JD318543 - Sequence 299567 from Patent EP1572962.
JD518987 - Sequence 500011 from Patent EP1572962.
JD025943 - Sequence 6967 from Patent EP1572962.
JD027781 - Sequence 8805 from Patent EP1572962.
JD120688 - Sequence 101712 from Patent EP1572962.
JD021555 - Sequence 2579 from Patent EP1572962.
JD402617 - Sequence 383641 from Patent EP1572962.
JD034531 - Sequence 15555 from Patent EP1572962.
JD369575 - Sequence 350599 from Patent EP1572962.
JD500878 - Sequence 481902 from Patent EP1572962.
JD375080 - Sequence 356104 from Patent EP1572962.
JD305289 - Sequence 286313 from Patent EP1572962.
JD231801 - Sequence 212825 from Patent EP1572962.
JD458404 - Sequence 439428 from Patent EP1572962.
JD297041 - Sequence 278065 from Patent EP1572962.
JD104009 - Sequence 85033 from Patent EP1572962.
JD132882 - Sequence 113906 from Patent EP1572962.
JD283481 - Sequence 264505 from Patent EP1572962.
JD232009 - Sequence 213033 from Patent EP1572962.
JD214055 - Sequence 195079 from Patent EP1572962.
JD248411 - Sequence 229435 from Patent EP1572962.
JD240883 - Sequence 221907 from Patent EP1572962.
JD253555 - Sequence 234579 from Patent EP1572962.
JD523845 - Sequence 504869 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P61764 (Reactome details) participates in the following event(s):

R-HSA-210426 Glutamate synaptic vesicle docking and priming
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-917744 GABA loaded synaptic vesicle Docking and Priming
R-HSA-210430 release of L-Glutamate at the synapse
R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-888589 Release of GABA at the synapse
R-HSA-210500 Glutamate Neurotransmitter Release Cycle
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-888590 GABA synthesis, release, reuptake and degradation
R-HSA-112310 Neurotransmitter release cycle
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System
R-HSA-6794353 NRXNs binds MUNC18
R-HSA-422356 Regulation of insulin secretion
R-HSA-163685 Energy Metabolism
R-HSA-1430728 Metabolism
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_003165, NP_003156, P61764-2, UNC18A
UCSC ID: uc004brk.2
RefSeq Accession: NM_003165
Protein: P61764-2, splice isoform of P61764 CCDS: CCDS6874.1

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003165.3
exon count: 20CDS single in 3' UTR: no RNA size: 3976
ORF size: 1812CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3824.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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