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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATOH1 Gene

protein-coding   GIFtS: 55
GCID: GC04P094750

atonal homolog 1 (Drosophila)

 Explore 12 diseases affiliated with
ATOH1 via our new
 Human Malady Compendium 
Biological research products
for ATOH1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Atonal Homolog 1 (Drosophila)1 2     Helix-Loop-Helix Protein HATH-12 3
BHLHa141     Math11
ATH12 3 5     Protein Atonal Homolog 12
HATH11 2     BHLHA143
MATH-11 2     HATH11 2
Class A Basic Helix-Loop-Helix Protein 142 3     

External Ids:    HGNC: 7971   Entrez Gene: 4742   Ensembl: ENSG000001722387   OMIM: 6014615   UniProtKB: Q928583   

Export aliases for ATOH1 gene to outside databases

Previous GC identifers: GC04P094907 GC04P095051 GC04P095208 GC04P095107 GC04P090487


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATOH1:
This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent
transcription along with E47. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ATOH1_HUMAN, Q92858
Function: Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the
activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation
of subsets of neural cells by activating E box-dependent transcription (By similarity)

Gene Wiki entry for ATOH1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATOH1 gene promoter:
         SRF   p53   NCX/Ncx   SRF (504 AA)   FOXO3   Nkx2-5   FOXO3b   SRY   STAT3   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATOH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATOH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATOH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22   Ensembl cytogenetic band:  4q22.2   HGNC cytogenetic band: 4q22

ATOH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATOH1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P094750:  view genomic region     (about GC identifiers)

Start:
94,750,042 bp from pter      End:
94,751,221 bp from pter
Size:
1,180 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATOH1_HUMAN, Q92858 (See protein sequence)
Recommended Name: Protein atonal homolog 1  
Size: 354 amino acids; 38160 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus (Probable)
Secondary accessions: Q14CT9

Explore the universe of human proteins at neXtProt for ATOH1: NX_Q92858

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92858

  • ATOH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005163.1  
    ENSEMBL proteins: 
     ENSP00000302216  

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    Novus Biologicals ATOH1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ATOH1
    Uscn Proteins for ATOH1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--


    ATOH1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATOH1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATOH1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q92858

    ProtoNet protein and cluster: Q92858

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: ATOH1_HUMAN, Q92858
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATOH1_HUMAN, Q92858
    Function: Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the
    activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation
    of subsets of neural cells by activating E box-dependent transcription (By similarity)

         Genatlas biochemistry entry for ATOH1:
    Drosophila atonal proneural gene homolog,involved in the development of nervous system

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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8872459
    GO:0005515protein binding ----
    GO:0031490chromatin DNA binding IEA--
    GO:0043565sequence-specific DNA binding IEA--


    ATOH1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATOH1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for ATOH1: Atoh1tm1Hzo Atoh1tm3.1Hzo
         10 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Atoh1):
     cellular  digestive/alimentary  endocrine/exocrine gland  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  no phenotypic analysis  normal  respiratory system 

    ATOH1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ATOH1
        Transcription factors in neurogenesis




    ATOH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATOH1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for ATOH1 (Q928583 ENSP000003022164) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMGB1P094293, ENSP000003430404I2D: score=1 STRING: ENSP00000343040
    RUNX1T1Q064553I2D: score=1 
    TCF3P159233I2D: score=1 
    TCF12ENSP000003310574STRING: ENSP00000331057
    TCF4ENSP000003464404STRING: ENSP00000346440
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS8872459
    GO:0006915apoptotic process IEA--
    GO:0007411axon guidance IEA--


    ATOH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATOH1
    Search CenterWatch for drugs/clinical trials and news about ATOH1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATOH1 gene: 
    NM_005172.1  

    Unigene Cluster for ATOH1:

    Atonal homolog 1 (Drosophila)
    Hs.532680
    Unigene Representative Sequence: BC113623
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000306011(uc003hta.1)

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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATOH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATOH1

    Additional cDNA sequence: 

    BC069145.1 BC069578.1 BC069594.1 BC069604.1 BC113623.1 BC113625.1 

    1 DOTS entry:

    DT.91670860 

    5 AceView cDNA sequences:

    BC069578 BC069604 BC069145 NM_005172 BC069594 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATOH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCTGAACCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ATOH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATOH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATOH1

    SOURCE GeneReport for Unigene cluster: Hs.532680
        SABiosciences Custom PCR Arrays for ATOH1
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ATOH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATOH1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATOH16
    Uncharacterized protein
    59(a)
    1 ↔ 1
    4(38218870-38220195)
    lizard
    (Anolis carolinensis)
    Reptilia ATOH16
    --
    63(a)
    1 ↔ 1
    5(48672536-48672870)
    zebrafish
    (Danio rerio)
    Actinopterygii AF024536.12   -- 81.72(n)   30303  AF024536.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cato6
    amos6
    (see all 3)
    absent MD neurons and olfactory sensilla
    (see all 3)
    28(a)
    25(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(12165294-12165902)
    2L(18596047-18597200)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-326
    Protein lin-32
    30(a)
    1 → many
    X(2229116-2230094)


    ENSEMBL Gene Tree for ATOH1 (if available)
    TreeFam Gene Tree for ATOH1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATOH1 gene
    NEUROG32  FERD3L2  NEUROD22  NEUROD12  NEUROD62  NEUROG22  BHLHA152  PTF1A2  
    ATOH72  NEUROG12  NEUROD42  
    4 SIMAP similar genes for ATOH1 using alignment to 2 protein entries:     ATOH1_HUMAN (see all proteins):
    ATOH7    TAL2    FERD3L    BHLHA15

    ATOH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATOH1
         1 CNV: 0276
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATOH1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATOH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATOH1 for disorders           About GeneDecksing

    OMIM gene information: 601461    OMIM disorders: --

    12 diseases for ATOH1:    About MalaCards
    cerebellar liponeurocytoma    sensorineural hearing loss    hearing loss    merkel cell carcinoma
    neuroendocrine tumor    colon cancer    colon adenocarcinoma    adenocarcinoma
    cerebritis    retinitis    carcinoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for ATOH1:
    Medulloblastoma     Sensorineural hearing loss     Cerebellar liponeurocytoma

    2 Novoseek disease relationships for ATOH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon tumor 42.5 3 15342386 (1), 16382053 (1)
    colon cancer 26.2 7 18275842 (3), 15342386 (1), 16382053 (1)


    Export disorders for ATOH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATOH1 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with ATOH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. (PubMed id 8872459)1, 2, 3 Ben-Arie N....Zoghbi H.Y. (1996)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Basic helix-loop-helix transcription factor profiling of lung tumors shows aberrant expression of the proneural gene atonal homolog 1 (ATOH1, HATH1, MATH1) in neuroendocrine tumors. (PubMed id 17549667)1, 9 Westerman B.A....Oudejans C.B. (2007)
    4. The intestine-specific homeobox gene Cdx2 induces expression of the basic helix-loop-helix transcription factor Math1. (PubMed id 16831200)1, 9 Mutoh H....Sugano K. (2006)
    5. Proteasomal degradation of Atoh1 by aberrant Wnt signaling maintains the undifferentiated state of colon cancer. (PubMed id 18275842)1, 9 Aragaki M....Watanabe M. (2008)
    6. A role for Hath1, a bHLH transcription factor, in colon adenocarcinoma. (PubMed id 16382053)1, 9 Leow C.C....Gao W.Q. (2005)
    7. Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. (PubMed id 11889557)1, 9 Brown N.L.... Glaser T. (2002)
    8. Atoh1 directs the formation of sensory mosaics and ind uces cell proliferation in the postnatal mammalian cochlea in vivo. (PubMed id 22573692)1 Kelly M.C....Chen P. (2012)
    9. Atoh1, an essential transcription factor in neurogenes is and intestinal and inner ear development: function, regulation, and context d ependency. (PubMed id 22370966)1 Mulvaney J. and Dabdoub A. (2012)
    10. Age-dependent in vivo conversion of mouse cochlear pil lar and Deiters' cells to immature hair cells by Atoh1 ectopic expression. (PubMed id 22573682)1 Liu Z....Zuo J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 474 HGNC: 797 AceView: ATOH1 Ensembl:ENSG00000172238 euGenes: HUgn474
    ECgene: ATOH1 H-InvDB: ATOH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATOH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATOH1 gene:
    Search GeneIP for patents involving ATOH1

    GeneCards and IP:
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