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 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: VPS45_Sec1
Gene Tree: Stxbp1

Human homologs

Human Homolog		STXBP1, syntaxin binding protein 1
NCBI Gene ID		6812
neXtProt AC		NX_P61764
Human Synonyms		MUNC18-1, NSEC1, P67, RBSEC1, UNC18
Human Chr (Location)		9q34.1; chr9:130374486-130454995 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human STXBP1

Alleles and phenotypes

All alleles(7) : Targeted(4) Gene trapped(3)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (35 annotations)

Process	axon target recognition, exocytosis, ...
Component	cytoplasm, mitochondrion, ...
Function	identical protein binding, protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (23)    Tissues (8)    Images (2)
Theiler Stages: 24, 26, 28

Assay Type	Results
RNA in situ	12
Western blot	11

cDNA source data(133)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(142) Genomic(7) cDNA(135)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000012527 (Evidence)
Ensembl Gene Model	ENSMUSG00000026797 (Evidence)
Entrez Gene	20910 (Evidence)
UniGene	278865
DFCI	TC1575007, TC1590596
DoTS	DT.101401320, DT.97337103, DT.97357746
NIA Mouse Gene Index	U022511
Consensus CDS Project	CCDS15933.1, CCDS50572.1
International Mouse Knockout Project Status	Stxbp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012527	VEGA Gene Model | MGI Sequence Detail	59638	C57BL/6J
transcript	OTTMUST00000029783	VEGA | MGI Sequence Detail	3577	Not Applicable
polypeptide	OTTMUSP00000013395	VEGA | MGI Sequence Detail	603	Not Applicable

All sequences(37) RefSeq(4) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(222 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188845 Oh E, et al., Munc18-1 regulates first-phase insulin release by promoting granule docking to multiple syntaxin isoforms. J Biol Chem. 2012 Jul 27;287(31):25821-33
All references(79)

Other accession IDs

MGD-MRK-33867, MGD-MRK-35830, MGI:1306809, MGI:2138896, MGI:2138910