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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
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
  • Candidate for QTL
    4 QTL
Location &
Maps
more
  • Sequence Map
    Chr2:32677619-32737249 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1586 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107363
 protein coding gene Chr2:32677614-32737257 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025625
 protein coding gene Chr2:31281091-31343880 (-)
A/J MGP_AJ_G0025602
 protein coding gene Chr2:29944202-30004368 (-)
AKR/J MGP_AKRJ_G0025572
 protein coding gene Chr2:31018740-31080750 (-)
BALB/cJ MGP_BALBcJ_G0025599
 protein coding gene Chr2:30063130-30123847 (-)
C3H/HeJ MGP_C3HHeJ_G0025359
 protein coding gene Chr2:30901007-30962571 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026043
 protein coding gene Chr2:32220845-32285036 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023452
 protein coding gene Chr2:28663955-28725530 (-)
CAST/EiJ MGP_CASTEiJ_G0024821
 protein coding gene Chr2:30855130-30915889 (-)
CBA/J MGP_CBAJ_G0025337
 protein coding gene Chr2:33451714-33515520 (-)
DBA/2J MGP_DBA2J_G0025470
 protein coding gene Chr2:29706106-29767380 (-)
FVB/NJ MGP_FVBNJ_G0025432
 protein coding gene Chr2:29594194-29654056 (-)
LP/J MGP_LPJ_G0025556
 protein coding gene Chr2:31154593-31220483 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025463
 protein coding gene Chr2:33068399-33129718 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026101
 protein coding gene Chr2:30887140-30948848 (-)
PWK/PhJ MGP_PWKPhJ_G0024569
 protein coding gene Chr2:29615250-29676967 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024369
 protein coding gene Chr2:31045968-31106312 (-)
WSB/EiJ MGP_WSBEiJ_G0024890
 protein coding gene Chr2:31076521-31139596 (-)



Homology
more
  • Human Ortholog
    STXBP1, syntaxin binding protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    STXBP1, syntaxin binding protein 1
  • Synonyms
    DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc18-1, unc-18A
  • Links
    NCBI Gene ID: 6812
    neXtProt AC: NX_P61764
    UniProt: P61764

  • Chr Location
    9q34.11; chr9:127579370-127696029 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human STXBP1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    63 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
less
  • All GO Annotations
    101
  • GO References
    27
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    877
  • Tissues
    79
  • cDNA Data
    135
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20910 NCBI Gene Model | MGI Sequence Detail 59631 C57BL/6J ±  kb
    transcript NM_001113569 RefSeq | MGI Sequence Detail 4005 ZRU/MplStud  
    polypeptide O08599 UniProt | EBI | MGI Sequence Detail 594 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 146
      Genomic 7
      cDNA 137
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33867, MGD-MRK-35830, MGI:1306809, MGI:2138896, MGI:2138910
    References
    more
    • Summaries
      All 142
      Developmental Gene Expression 24
      Gene Ontology 27
      Phenotypes 63
    • 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:351576 Guiberson NGL, et al., Disease-linked mutations in Munc18-1 deplete synaptic Doc2. Brain. 2024 Jun 3;147(6):2185-2202
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory