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Stxbp1 Gene Detail
Summary
  • Symbol
    Stxbp1
  • Name
    syntaxin binding protein 1
  • Synonyms
    Munc18-1, Munc-18a, nsec1, N-sec1, Rb-sec1, Sxtbp1, Unc18h
  • Feature Type
    protein coding gene
  • IDs
    MGI:107363
    NCBI Gene: 20910
  • Gene Overview
    MyGene.info: STXBP1
Location & Maps
more
  • Sequence Map
    Chr2:32787602-32847245 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59644 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    STXBP1, syntaxin binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    STXBP1, syntaxin binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MUNC18-1, NSEC1, P67, RBSEC1, UNC18
  • Links
    NCBI Gene ID: 6812
    neXtProt AC: NX_P61764

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

Human Diseases
more
  • Diseases
    1 with human STXBP1 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 4; EIEE4   OMIM: 612164
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit total loss of neurotransmitter secretion from synaptic vesicles throughout development and massive neuron apoptosis after initial synaptogenesis, leading to widespread neurodegeneration and complete neonatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012527 VEGA Gene Model | MGI Sequence Detail 59644 C57BL/6J ±  kb
transcript OTTMUST00000029783 VEGA | MGI Sequence Detail 3616 Not Applicable  
polypeptide OTTMUSP00000013395 VEGA | MGI Sequence Detail 603 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    241 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 143
    Genomic 7
    cDNA 136

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-33867, MGD-MRK-35830, MGI:1306809, MGI:2138896, MGI:2138910
References
more
  • Summaries
    All 87
    Developmental Gene Expression 14
    Gene Ontology 20
    Phenotypes 27
  • 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:233703 Schmitz SK, et al., Presynaptic inhibition upon CB1 or mGlu2/3 receptor activation requires ERK/MAPK phosphorylation of Munc18-1. EMBO J. 2016 Jun 1;35(11):1236-50

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory