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Stxbp1
Gene Detail
Symbol

Name
ID
Stxbp1
syntaxin binding protein 1
MGI:107363
Synonyms
Munc18-1, Munc-18a, nsec1, N-sec1, Rb-sec1, Sxtbp1, Unc18h
Feature Type
protein coding gene
Genetic Map
Chromosome 2
22.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr2:32787602-32847239 bp, - strand
From VEGA annotation of GRCm38

  59638 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2382  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: STXBP1
Protein SuperFamily: VPS45_Sec1
Gene Tree: Stxbp1

Human
homologs
STXBP1, syntaxin binding protein 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6812
neXtProt AC: NX_P61764

Human Synonyms: MUNC18-1, NSEC1, P67, RBSEC1, UNC18

Human Chr (Location): 9q34.1; chr9:127612207-127692716 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human STXBP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(3) Targeted(6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a targeted null allele show an apparently normal initial brain assembly but lack synaptic neurotransmitter release, display massive neuron apoptosis and degeneration after assembly of the neuronal networks, and die shortly after birth probably due to an inability to breathe.
 
Interactions
Stxbp1 interacts with 229 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 annotations)
Process axon target recognition, exocytosis, ...
Component cell, cytoplasm, ...
Function identical protein binding, poly(A) RNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (23)    Tissues (9)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 12
Western blot 11
cDNA source data(134)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase stxbp1 ; ZFIN stxbp1a    NEW 
Molecular
reagents
All nucleic(143) Genomic(7) cDNA(136)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000012527 (Evidence)
Ensembl Gene Model ENSMUSG00000026797 (Evidence)
Entrez Gene 20910 (Evidence)
UniGene 278865
DFCI TC1590596, TC1575007
DoTS DT.97357746, DT.97337103, DT.101401320
NIA Mouse Gene Index U022511
Consensus CDS Project CCDS15933.1, CCDS50572.1
International Mouse Phenotyping Consortium Status Stxbp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012527 VEGA Gene Model | MGI Sequence Detail 59638 C57BL/6J ±  kb
transcript OTTMUST00000029783 VEGA | MGI Sequence Detail 3577 Not Applicable 
polypeptide OTTMUSP00000013395 VEGA | MGI Sequence Detail 603 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(1)
Polymorphisms
RFLP(1) : SNPs within 2kb(241 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR027482 Sec1-like, domain 2
InterPro IPR001619 Sec1-like protein
Protein Ontology PR:000003317 syntaxin-binding protein 1
References
(Earliest) J:23761 Katagiri H, et al., A novel isoform of syntaxin-binding protein homologous to yeast Sec1 expressed ubiquitously in mammalian cells. J Biol Chem. 1995 Mar 10;270(10):4963-6
(Latest) J:221909 De Marco Garcia NV, et al., Sensory inputs control the integration of neurogliaform interneurons into cortical circuits. Nat Neurosci. 2015 Mar;18(3):393-401
All references(86)
Other
accession IDs
MGD-MRK-33867, MGD-MRK-35830, MGI:1306809, MGI:2138896, MGI:2138910

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory