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Atoh1 Gene Detail
Summary
  • Symbol
    Atoh1
  • Name
    atonal bHLH transcription factor 1
  • Synonyms
    bHLHa14, Hath1, Math1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104654
    NCBI Gene: 11921
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:64706109-64708229 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 30.03 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    122 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104654
 protein coding gene Chr6:64706109-64708229 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030828
 protein coding gene Chr6:64645010-64647130 (+)
A/J MGP_AJ_G0030795
 protein coding gene Chr6:61813579-61815699 (+)
AKR/J MGP_AKRJ_G0030723
 protein coding gene Chr6:63789702-63791822 (+)
BALB/cJ MGP_BALBcJ_G0030806
 protein coding gene Chr6:62221985-62224105 (+)
C3H/HeJ MGP_C3HHeJ_G0030906
 protein coding gene Chr6:120442116-120444237 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031264
 protein coding gene Chr6:66101250-66103370 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028457
 protein coding gene Chr6:59193833-59195966 (+)
CAST/EiJ MGP_CASTEiJ_G0029918
 protein coding gene Chr6:64030303-64032426 (+)
CBA/J MGP_CBAJ_G0030493
 protein coding gene Chr6:68819051-68821172 (+)
DBA/2J MGP_DBA2J_G0030645
 protein coding gene Chr6:61512130-61514251 (+)
FVB/NJ MGP_FVBNJ_G0030598
 protein coding gene Chr6:61037047-61039167 (+)
LP/J MGP_LPJ_G0030729
 protein coding gene Chr6:64586260-64588380 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030633
 protein coding gene Chr6:72581403-72583523 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031290
 protein coding gene Chr6:63738877-63740997 (+)
PWK/PhJ MGP_PWKPhJ_G0029633
 protein coding gene Chr6:60683177-60685300 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029461
 protein coding gene Chr6:63255555-63257678 (+)
WSB/EiJ MGP_WSBEiJ_G0030000
 protein coding gene Chr6:64020357-64022478 (+)



Homology
more
  • Human Ortholog
    ATOH1, atonal bHLH transcription factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATOH1, atonal bHLH transcription factor 1
  • Synonyms
    ATH1, bHLHa14, DFNA89, HATH1, MATH-1
  • Links
    NCBI Gene ID: 474
    neXtProt AC: NX_Q92858
    UniProt: Q92858

  • Chr Location
    4q22.2; chr4:93828753-93830964 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ATOH1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 7 alleles in 7 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    212 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.
Homozygotes for targeted null mutations exhibit a decreased cerebellum without folia, and lack cerebellar granule neurons, inner-ear hair cells, D1 interneurons, and goblet, enteroendocrine, and Paneth cells. Mutants fail to breathe properly and die at birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    45
  • GO References
    24
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
    1634
  • Tissues
    297
  • cDNA Data
    25
  • Literature Summary
    317
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11921 NCBI Gene Model | MGI Sequence Detail 2121 C57BL/6J ±  kb
    transcript NM_007500 RefSeq | MGI Sequence Detail 2121 ZRU/MplStud  
    polypeptide P48985 UniProt | EBI | MGI Sequence Detail 351 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000004430 transcription factor ATOH1
      (term hierarchy)
    • InterPro Domains
      IPR050359 Basic helix-loop-helix transcription factors
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR032661 Transcription factor ATOH1, basic helix-loop-helix domain
    Molecular
    Reagents
    less
    • All nucleic 73
      Genomic 8
      cDNA 26
      Primer pair 15
      Other 24

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-26094
    References
    more
    • Summaries
      All 523
      Developmental Gene Expression 317
      Gene Ontology 24
      Phenotypes 212
    • Earliest
      J:24337 Akazawa C, et al., A mammalian helix-loop-helix factor structurally related to the product of Drosophila proneural gene atonal is a positive transcriptional regulator expressed in the developing nervous system. J Biol Chem. 1995 Apr 14;270(15):8730-8
    • Latest
      J:354051 Kagoshima H, et al., EBF1 Limits the Numbers of Cochlear Hair and Supporting Cells and Forms the Scala Tympani and Spiral Limbus during Inner Ear Development. J Neurosci. 2024 Feb 14;44(7)
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory