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    ATOH1 atonal bHLH transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 474, updated on 17-Jun-2024

    Summary

    Official Symbol
    ATOH1provided by HGNC
    Official Full Name
    atonal bHLH transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:797
    See related
    Ensembl:ENSG00000172238 MIM:601461; AllianceGenome:HGNC:797
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATH1; HATH1; DFNA89; MATH-1; bHLHa14
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in neuron differentiation; positive regulation of neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; inner ear morphogenesis; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
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    Genomic context

    See ATOH1 in Genome Data Viewer
    Location:
    4q22.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (93828753..93830964)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (97144124..97146335)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (94749904..94752115)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor delta type subunit 2 Neighboring gene RACK1 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94068335-94068896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94287122-94287935 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94329999-94330773 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:94506413-94507612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:94564478-94565145 Neighboring gene Sharpr-MPRA regulatory region 1337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:94748021-94748726 Neighboring gene RNA, 5S ribosomal pseudogene 164 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:95005658-95006596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:95006597-95007536 Neighboring gene SMARCAD1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 519 Neighboring gene uncharacterized LOC124900734 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:95086553-95087260 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:95087971-95088678 Neighboring gene high mobility group box 3 pseudogene 15

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables E-box binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in auditory receptor cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in auditory receptor cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gliogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transcription factor ATOH1
    Names
    atonal homolog 1
    atonal homolog bHLH transcription factor 1
    basic helix-loop-helix family member a14
    class A basic helix-loop-helix protein 14
    helix-loop-helix protein hATH-1
    protein atonal homolog 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005172.2NP_005163.1  transcription factor ATOH1

      See identical proteins and their annotated locations for NP_005163.1

      Status: REVIEWED

      Source sequence(s)
      AC087413, BC113625
      Consensus CDS
      CCDS3638.1
      UniProtKB/Swiss-Prot
      Q14CT9, Q92858
      UniProtKB/TrEMBL
      Q6ISE7
      Related
      ENSP00000302216.4, ENST00000306011.6
      Conserved Domains (1) summary
      cd00083
      Location:158216
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      93828753..93830964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      97144124..97146335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)