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] See more...

Aliases for ATOH1 Gene

Aliases for ATOH1 Gene

  • Atonal BHLH Transcription Factor 1 2 3 5
  • BHLHa14 2 3 4
  • HATH1 2 3 4
  • Atonal Homolog BHLH Transcription Factor 1 2 3
  • Class A Basic Helix-Loop-Helix Protein 14 3 4
  • Helix-Loop-Helix Protein HATH-1 3 4
  • Protein Atonal Homolog 1 3 4
  • MATH-1 2 3
  • ATH1 3 4
  • Atonal Homolog 1 (Drosophila) 2
  • Atonal Homolog 1 3
  • BHLHA14 4
  • ATOH1 5
  • Math1 2

External Ids for ATOH1 Gene

Previous GeneCards Identifiers for ATOH1 Gene

  • GC04P094907
  • GC04P095051
  • GC04P095208
  • GC04P095107
  • GC04P094750
  • GC04P090487

Summaries for ATOH1 Gene

Entrez Gene Summary for ATOH1 Gene

  • 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]

GeneCards Summary for ATOH1 Gene

ATOH1 (Atonal BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with ATOH1 include Goblet Cell Carcinoid and Sensorineural Hearing Loss. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NEUROD1.

UniProtKB/Swiss-Prot Summary for ATOH1 Gene

  • 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 Gene

Additional gene information for ATOH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATOH1 Gene

Genomics for ATOH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATOH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J093827 Promoter/Enhancer 1.1 Ensembl ENCODE 600.7 -0.2 -152 2.4 TEAD4 ZNF692 ZIC2 PATZ1 POLR2A EZH2 ZNF341 SCRT2 ARNT HES1 ATOH1 RNA5SP164
GH04J093814 Enhancer 0.6 Ensembl 0.4 -14.1 -14052 1.4 SCRT2 USF1 ELF1 SPI1 GABPA TBX21 POLR2A MAX USF2 ZNF148 RNA5SP164 piR-60610 ATOH1
GH04J093835 Enhancer 0.5 ENCODE 0.4 +5.8 5839 0.2 KDM1A EZH2 SIN3A SMARCA4 TAF1 SP1 ATOH1 piR-38344-100 SMARCAD1
GH04J093842 Enhancer 0.5 Ensembl ENCODE 0.4 +14.7 14738 2.5 YY1 FOXP1 ATOH1 piR-38344-100 SMARCAD1
GH04J093834 Enhancer 0.5 ENCODE 0.4 +6.2 6242 0.1 KDM1A ZNF143 NRF1 TAF1 EZH2 ATOH1 piR-38344-100 SMARCAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATOH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATOH1

Top Transcription factor binding sites by QIAGEN in the ATOH1 gene promoter:
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NCX
  • Nkx2-5
  • p53
  • SRF
  • SRF (504 AA)
  • SRY
  • STAT3

Genomic Locations for ATOH1 Gene

Genomic Locations for ATOH1 Gene
chr4:93,828,753-93,830,964
(GRCh38/hg38)
Size:
2,212 bases
Orientation:
Plus strand
chr4:94,750,042-94,751,221
(GRCh37/hg19)
Size:
1,180 bases
Orientation:
Plus strand

Genomic View for ATOH1 Gene

Genes around ATOH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATOH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATOH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATOH1 Gene

Proteins for ATOH1 Gene

  • Protein details for ATOH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92858-ATOH1_HUMAN
    Recommended name:
    Protein atonal homolog 1
    Protein Accession:
    Q92858
    Secondary Accessions:
    • Q14CT9

    Protein attributes for ATOH1 Gene

    Size:
    354 amino acids
    Molecular mass:
    38160 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.

neXtProt entry for ATOH1 Gene

Post-translational modifications for ATOH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATOH1 Gene

Domains & Families for ATOH1 Gene

Gene Families for ATOH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ATOH1 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for ATOH1 Gene

GenScript: Design optimal peptide antigens:
  • Helix-loop-helix protein hATH-1 (ATOH1_HUMAN)
  • ATOH1 protein (Q6ISE7_HUMAN)
genes like me logo Genes that share domains with ATOH1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATOH1 Gene

Function for ATOH1 Gene

Molecular function for ATOH1 Gene

UniProtKB/Swiss-Prot 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:
Drosophila atonal proneural gene homolog,involved in the development of nervous system

Phenotypes From GWAS Catalog for ATOH1 Gene

Gene Ontology (GO) - Molecular Function for ATOH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 8872459
genes like me logo Genes that share ontologies with ATOH1: view
genes like me logo Genes that share phenotypes with ATOH1: view

Animal Models for ATOH1 Gene

MGI Knock Outs for ATOH1:

Animal Model Products

CRISPR Products

miRNA for ATOH1 Gene

miRTarBase miRNAs that target ATOH1
Targeted motifs for ATOH1 Gene
HOMER Transcription Factor Regulatory Elements motif ATOH1
  • Consensus sequence: VNAVCAGCTGGC Submotif: canonical Cell Type: Cerebellum GEO ID: GSE22111

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATOH1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for ATOH1 Gene

Localization for ATOH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATOH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATOH1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATOH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with ATOH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATOH1 Gene

Pathways & Interactions for ATOH1 Gene

PathCards logo

SuperPathways for ATOH1 Gene

No Data Available

SIGNOR curated interactions for ATOH1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ATOH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 8872459
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with ATOH1: view

No data available for Pathways by source for ATOH1 Gene

Drugs & Compounds for ATOH1 Gene

No Compound Related Data Available

Transcripts for ATOH1 Gene

mRNA/cDNA for ATOH1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATOH1

Alternative Splicing Database (ASD) splice patterns (SP) for ATOH1 Gene

No ASD Table

Relevant External Links for ATOH1 Gene

GeneLoc Exon Structure for
ATOH1

Expression for ATOH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATOH1 Gene

mRNA differential expression in normal tissues according to GTEx for ATOH1 Gene

This gene is overexpressed in Colon - Transverse (x32.4) and Small Intestine - Terminal Ileum (x17.9).

Protein differential expression in normal tissues from HIPED for ATOH1 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATOH1 Gene



Protein tissue co-expression partners for ATOH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATOH1

SOURCE GeneReport for Unigene cluster for ATOH1 Gene:

Hs.532680

Evidence on tissue expression from TISSUES for ATOH1 Gene

  • Intestine(3)
  • Nervous system(2.6)
  • Lung(2.3)
  • Eye(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with ATOH1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATOH1 Gene

Orthologs for ATOH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATOH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATOH1 30 31
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATOH1 30 31
  • 89.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATOH1 30 31
  • 88.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atoh1 30
  • 84.81 (n)
Mouse
(Mus musculus)
Mammalia Atoh1 30 17 31
  • 84.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATOH1 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATOH1 30
  • 61.64 (n)
Lizard
(Anolis carolinensis)
Reptilia ATOH1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atoh1 30
  • 65.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii atoh1a 30 31
  • 62.1 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta ato 31
  • 20 (a)
OneToOne
Species where no ortholog for ATOH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ATOH1 Gene

ENSEMBL:
Gene Tree for ATOH1 (if available)
TreeFam:
Gene Tree for ATOH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATOH1: view image

Paralogs for ATOH1 Gene

(3) SIMAP similar genes for ATOH1 Gene using alignment to 2 proteins:

  • ATOH1_HUMAN
  • Q6ISE7_HUMAN
genes like me logo Genes that share paralogs with ATOH1: view

Variants for ATOH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATOH1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
767965 Benign: not provided 93,829,734(+) G/C MISSENSE_VARIANT
773455 Benign: not provided 93,829,637(+) C/A MISSENSE_VARIANT
783425 Benign: not provided 93,829,499(+) C/T SYNONYMOUS_VARIANT
785105 Benign: not provided 93,829,340(+) C/G MISSENSE_VARIANT
813817 Pathogenic: Dominant progressive sensorineural hearing loss 93,829,950(+) TC/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ATOH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATOH1 Gene

Variant ID Type Subtype PubMed ID
nsv821636 CNV gain 15273396
nsv997789 CNV gain 25217958

Variation tolerance for ATOH1 Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATOH1 Gene

Human Gene Mutation Database (HGMD)
ATOH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATOH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATOH1 Gene

Disorders for ATOH1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATOH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
goblet cell carcinoid
  • gcc
sensorineural hearing loss
  • central hearing loss
merkel cell carcinoma
  • trabecular adenocarcinoma
cerebellar liponeurocytoma
  • central neurocytoma
serous labyrinthitis
  • acute serous labyrinthitis
- elite association - COSMIC cancer census association via MalaCards
Search ATOH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATOH1

genes like me logo Genes that share disorders with ATOH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATOH1 Gene

Publications for ATOH1 Gene

  1. Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. (PMID: 8872459) Ben-Arie N … Zoghbi HY (Human molecular genetics 1996) 2 3 4
  2. Proteasomal degradation of Atoh1 by aberrant Wnt signaling maintains the undifferentiated state of colon cancer. (PMID: 18275842) Aragaki M … Watanabe M (Biochemical and biophysical research communications 2008) 3 23
  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. (PMID: 17549667) Westerman BA … Oudejans CB (The International journal of biological markers 2007) 3 23
  4. The intestine-specific homeobox gene Cdx2 induces expression of the basic helix-loop-helix transcription factor Math1. (PMID: 16831200) Mutoh H … Sugano K (Differentiation; research in biological diversity 2006) 3 23
  5. A role for Hath1, a bHLH transcription factor, in colon adenocarcinoma. (PMID: 16382053) Leow CC … Gao WQ (Annals of the New York Academy of Sciences 2005) 3 23

Products for ATOH1 Gene

Sources for ATOH1 Gene