ATOH1
Identifiers
Aliases	ATOH1, ATH1, HATH1, MATH-1, bHLHa14, atonal bHLH transcription factor 1
External IDs	OMIM: 601461 MGI: 104654 HomoloGene: 31297 GeneCards: ATOH1
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q22.2 Start 93,828,753 bp[1] End 93,830,964 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C1|6 30.03 cM Start 64,706,109 bp[2] End 64,708,229 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in rectum duodenum jejunal mucosa appendix muscle tissue smooth muscle tissue human thorax viscus esophagus wall of esophagus Top expressed in rhombic lip crypt of lieberkuhn of small intestine left colon Paneth cell intestinal villus jejunum ileum urethra male urethra saccule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process Notch signaling pathway regulation of neuron differentiation auditory receptor cell fate determination cell differentiation positive regulation of inner ear auditory receptor cell differentiation regulation of transcription, DNA-templated positive regulation of inner ear receptor cell differentiation negative regulation of apoptotic process neuron migration auditory receptor cell fate specification transcription, DNA-templated nervous system development axon guidance multicellular organism development central nervous system development brain development inner ear auditory receptor cell differentiation inner ear morphogenesis positive regulation of neuron differentiation neuron differentiation cerebral cortex development inner ear development positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 474 11921 Ensembl ENSG00000172238 ENSMUSG00000073043 UniProt Q92858 P48985 RefSeq (mRNA) NM_005172 NM_007500 RefSeq (protein) NP_005163 NP_031526 Location (UCSC) Chr 4: 93.83 – 93.83 Mb Chr 6: 64.71 – 64.71 Mb PubMed search [3] [4]
Wikidata
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Protein atonal homolog 1 is a protein that in humans is encoded by the ATOH1 gene.^[5][6]

Function

This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with TCF3 (E47).^[6] ATOH1 is required for the formation of both neural and non-neural cell types. Using genetic deletion in mice, Atoh1 has been shown to be essential for formation of cerebellar granule neurons, inner ear hair cells, spinal cord interneurons, Merkel cells of the skin, and intestinal secretory cells (goblet, enteroendocrine, and Paneth cells). ATOH1 is a mammalian homolog of the Drosophila melanogaster gene atonal. ATOH1 is considered part of the Notch signaling pathway.

In 2009, ATOH1 was identified as a tumor suppressor gene. ^[7][8]