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FLASH GENE
Symbol ATOH1 contributors: mct/pgu - updated : 07-03-2013
HGNC name atonal homolog 1 (Drosophila)
HGNC id 797
Location 4q22.2      Physical location : 94.750.077 - 94.751.142
Synonym name helix-loop-helix protein hATH-1
Synonym symbol(s) ATH1, HATH1, MATH-1, MATH1, bHLHa14, HATH1
DNA
TYPE functioning gene
STRUCTURE 1.06 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D4S1558 - [D4S1557 ] - D4S411 - qter
Text [ATOH1 ]
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 1065 38 354 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/EquilibriumearinnercochleaCorti  Homo sapiensFetal
Nervousbrainhindbraincerebellum highly Homo sapiens
Visualeyeretina   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a basic helix-loop-helix (bHLH) domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Atoh1 (89.2pc)
    homolog to murine Atoh1 (89.2 pc)
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • ATOH1-lineage gives rise to hair cells and supporting cells within the mammalian cochlea
  • basic FUNCTION
  • involved in the development of nervous system
  • playing an essential role in hair cell development
  • inducing regeneration of hair cells in deafness
  • may be functioning in the developing cochlea to initiate both inductive and inhibitory signals that regulate the overall formation of the sensory epithelia
  • activating E box-dependent transcription in collaboration with TCF3/E47 (being completely antagonized by the negative regulator of neurogenesis HES1)
  • may play a role in the differentiation of subsets of neural cells by activating E box- dependent transcription
  • playing a crucial role in intestinal cell differentiation
  • may contribute to granule neuron precursors proliferation
  • regulates the signal transduction pathway of sonic hedgehog
  • function of ATOH1 in postnatal cerebellar development
  • collaborates with the pro-proliferative GLI1-dependent transcriptional program to influence medulloblastoma development
  • BHLH transcription factor that specifies distinct neuronal subtypes of the proprioceptive pathway in mammals including the dI1 (dorsal interneuron 1) population of the developing spinal cord
  • involved in differentiation of neurons, secretory cells in the gut, and mechanoreceptors including auditory hair cells
  • its activity in the cochlea is both necessary and sufficient to drive auditory hair cell differentiation
  • essential for the intestinal goblet cell differentiation
  • activates proliferation within the normally postmitotic cochlear epithelium
  • governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood
  • gene critical for hair cell differentiation
  • critical for promoting repair/regeneration of stereocilia and maintaining injured hair cells in the adult cochlea
  • PTF1A and ATOH1 are essential and sufficient for GABAergic versus glutamatergic specification in the neuroepithelium
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , nervous system
    text
  • brain development
  • axon guidance
  • inner ear morphogenesis
  • PATHWAY
    metabolism
    signaling sensory transduction/hearing
    positive regulation of auditory receptor cell differentiation
    a component
    INTERACTION
    DNA binding to E box
    RNA
    small molecule
    protein
  • ATOH1 is a key upstream regulator of BARHL1 in the inner ear and central nervous system
  • NEUROD1 is a downstream target of ATOH1, having potentially an independent role that is unrelated to the survival or differentiation of the inner ear hair cells
  • cell & other
    REGULATION
    Other regulated by POU4F3
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colon tumor, and protein degradation may be required for maintaining the undifferentiated state of colon cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene for therapy in deafness
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialear 
    Atoh1-based gene therapy, therefore, has the potential to treat noise-induced hearing loss if the treatment is carried out before hair cells die
    cancerdigestivecolon
    protein degradation may be required for maintaining the undifferentiated state of colon cancers (GSK3 inhibitors have potential for use in cancer therapy)
    neurosensorialear 
    ATOH1 and SPDEF could be the therapeutic targets for otitis media associated with mucous cell metaplasia which is frequently considered "intractable" in the clinical settings
    ANIMAL & CELL MODELS
  • loss of Atoh1 in mice results in respiratory failure and neonatal lethality