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ATOH1 Gene(Protein Coding)

Atonal BHLH Transcription Factor 1

GCID:
GC04P093828
GIFtS:
45
Genes Participants
UDN Logo

Aliases for ATOH1 Gene

Aliases for ATOH1 Gene

  • Atonal BHLH Transcription Factor 1 2 3 5
  • 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
  • BHLHa14 3 4
  • HATH1 3 4
  • ATH1 3 4
  • Atonal Homolog 1 (Drosophila) 2
  • Protein Atonal Homolog 1 3
  • Atonal Homolog 1 3
  • MATH-1 3

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 Adult Medulloblastoma. 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 NEUROG2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ATOH1 Gene

Genomics for ATOH1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ATOH1 Gene

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
GH04I093828 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 +0.1 115 1.3 PKNOX1 ARNT SIN3A FEZF1 ZNF335 GLIS2 SCRT2 ZBTB11 ZNF398 REST ATOH1 GC04P093852
GH04I093829 Enhancer 0.5 Ensembl 550.8 +0.9 948 0.2 KLF1 ZNF341 SCRT2 ZNF223 KLF9 ZBTB20 EZH2 ATOH1 GC04P093852
GH04I093827 Enhancer 0.5 ENCODE 550.8 -1.3 -1268 0.2 SCRT2 SIN3A CTBP2 EZH2 ATOH1 RNA5SP164
GH04I093835 Enhancer 0.5 ENCODE 0.4 +5.8 5839 0.2 SP1 SIN3A CTBP2 EZH2 ATOH1 GC04P093852
GH04I093834 Enhancer 0.4 ENCODE 0.4 +6.2 6242 0.1 ZNF143 CTBP2 EZH2 ATOH1 GC04P093852
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATOH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATOH1 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for ATOH1 Gene

Proteins for ATOH1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ATOH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:
ProtoNet:

Suggested Antigen Peptide Sequences for ATOH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ATOH1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ATOH1 Gene

GENATLAS Biochemistry:
Drosophila atonal proneural gene homolog,involved in the development of nervous system
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).

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:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 8872459
GO:0031490 chromatin DNA binding IEA --
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

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

Clone Products

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

Nucleus.

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 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATOH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

SuperPathways for ATOH1 Gene

PathCards logo More details on SuperPathways for ATOH1
No Data Available

Gene Ontology (GO) - Biological Process for ATOH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 8872459
GO:0007219 Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with ATOH1: view

No data available for Pathways by source and SIGNOR curated interactions for ATOH1 Gene

Drugs & Compounds for ATOH1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ATOH1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATOH1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATOH1 Gene

Atonal homolog 1 (Drosophila):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ATOH1 Gene

GeneLoc Exon Structure for
ATOH1
ECgene alternative splicing isoforms for
ATOH1

Expression for ATOH1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for ATOH1 Gene
mRNA expression by BioGPS for ATOH1 GenemRNA expression by GTEx 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, PaxDb, and MOPED for ATOH1 Gene



Protein tissue co-expression partners for ATOH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATOH1 Gene:

ATOH1

SOURCE GeneReport for Unigene cluster for ATOH1 Gene:

Hs.532680

Evidence on tissue expression from TISSUES for ATOH1 Gene

  • Intestine(2.6)
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 33 34
  • 99.15 (n)
dog
(Canis familiaris)
 Mammalia ATOH1 33 34
  • 89.02 (n)
cow
(Bos Taurus)
 Mammalia ATOH1 33 34
  • 88.64 (n)
rat
(Rattus norvegicus)
 Mammalia Atoh1 33
  • 84.81 (n)
mouse
(Mus musculus)
 Mammalia Atoh1 33 16 34
  • 84.62 (n)
oppossum
(Monodelphis domestica)
 Mammalia ATOH1 34
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATOH1 33
  • 61.64 (n)
lizard
(Anolis carolinensis)
 Reptilia ATOH1 34
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atoh1 33
  • 65.44 (n)
zebrafish
(Danio rerio)
 Actinopterygii atoh1a 33 34
  • 62.1 (n)
-- 33
fruit fly
(Drosophila melanogaster)
 Insecta ato 34
  • 20 (a)
 OneToOne
Species where no ortholog for ATOH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ATOH1 Gene

Paralogs for ATOH1 Gene

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

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

Variants for ATOH1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ATOH1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10009502 -- 93,828,907(+) C/G upstream_transcript_variant
rs10015253 -- 93,827,138(+) T/C upstream_transcript_variant
rs1004166245 -- 93,827,395(+) T/C upstream_transcript_variant
rs1004289433 -- 93,830,452(+) T/G downstream_transcript_variant
rs1005171977 -- 93,828,438(+) C/A upstream_transcript_variant

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

(7) MalaCards diseases for ATOH1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
goblet cell carcinoid
  • gcc
adult medulloblastoma
  • adult brain medulloblastoma
cerebellum cancer
  • cerebellar cancer
cerebellar liponeurocytoma
  • central neurocytoma
ear malformation
  • cup ear
- 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

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 22 58
  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 22 58
  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 22 58
  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 22 58

Products for ATOH1 Gene

Sources for ATOH1 Gene

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