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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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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.
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
Other Names for This Gene
Alternate Gene Symbols: NM_003165, NP_003156, P61764-2, UNC18AUCSC ID: uc004brk.2RefSeq 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:
20 CDS single in 3' UTR:
no
RNA size:
3976
ORF size:
1812 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3824.00 frame 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
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Methods, Credits, and Use Restrictions
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