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Notch1 Gene Detail
Summary
  • Symbol
    Notch1
  • Name
    notch 1
  • Synonyms
    9930111A19Rik, lin-12, Mis6, Motch A, N1, Tan1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97363
    NCBI Gene: 18128
  • Gene Overview
    MyGene.info: NOTCH1
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26457902-26503822 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 18.91 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    256 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97363
protein coding gene Chr2:26457902-26516663 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025490
protein coding gene Chr2:24412350-24474919 (-)
A/J MGP_AJ_G0025467
protein coding gene Chr2:23476101-23534883 (-)
AKR/J MGP_AKRJ_G0025437
protein coding gene Chr2:24239875-24298678 (-)
BALB/cJ MGP_BALBcJ_G0025463
protein coding gene Chr2:23586317-23645394 (-)
C3H/HeJ MGP_C3HHeJ_G0025224
protein coding gene Chr2:24198083-24256771 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025907
protein coding gene Chr2:25195421-25267769 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023318
protein coding gene Chr2:22356819-22413065 (-)
CAST/EiJ MGP_CASTEiJ_G0024687
protein coding gene Chr2:24076667-24135534 (-)
CBA/J MGP_CBAJ_G0025202
protein coding gene Chr2:26051888-26117331 (-)
DBA/2J MGP_DBA2J_G0025335
protein coding gene Chr2:23297047-23356229 (-)
FVB/NJ MGP_FVBNJ_G0025297
protein coding gene Chr2:23051880-23110877 (-)
LP/J MGP_LPJ_G0025421
protein coding gene Chr2:24355909-24416225 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025328
protein coding gene Chr2:26199335-26259173 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025966
protein coding gene Chr2:24197987-24256698 (-)
PWK/PhJ MGP_PWKPhJ_G0024435
protein coding gene Chr2:23102774-23162333 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024235
protein coding gene Chr2:24331918-24392915 (-)
WSB/EiJ MGP_WSBEiJ_G0024756
protein coding gene Chr2:24304101-24363776 (-)



Homology
more
  • Human Ortholog
    NOTCH1, notch 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NOTCH1, notch 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AOS5, AOVD1, hN1, TAN1
  • Links
    NCBI Gene ID: 4851
    neXtProt AC: NX_P46531
    UniProt: P46531

  • Chr Location
    9q34.3; chr9:136494433-136545786 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human NOTCH1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    182 phenotypes from 24 alleles in 41 genetic backgrounds
    103 phenotypes from multigenic genotypes
    11 images
    432 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18128 NCBI Gene Model | MGI Sequence Detail 45921 C57BL/6J ±  kb
    transcript NM_008714 RefSeq | MGI Sequence Detail 9497 C57BL/6  
    polypeptide Q01705 UniProt | EBI | MGI Sequence Detail 2531 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 207
      Genomic 5
      cDNA 180
      Primer pair 21
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12915, MGD-MRK-18791, MGI:1915375
    References
    more
    • Summaries
      All 1237
      Developmental Gene Expression 538
      Diseases 1
      Gene Ontology 94
      Phenotypes 432
    • Earliest
      J:31835 Weinmaster G, et al., A homolog of Drosophila Notch expressed during mammalian development. Development. 1991 Sep;113(1):199-205
    • Latest
      J:266477 Wang Y, et al., Myocardial beta-Catenin-BMP2 signaling promotes mesenchymal cell proliferation during endocardial cushion formation. J Mol Cell Cardiol. 2018 Sep 8;123:150-158

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory