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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
External Ids for ATOH1 Gene
- HGNC: 797
- Entrez Gene: 474
- Ensembl: ENSG00000172238
- OMIM: 601461
- UniProtKB: Q92858
Previous GeneCards Identifiers for ATOH1 Gene
- GC04P094907
- GC04P095051
- GC04P095208
- GC04P095107
- GC04P094750
- GC04P090487
Summaries 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).
Additional gene information for ATOH1 Gene
- HGNC(797)
- Entrez Gene(474)
- Ensembl(ENSG00000172238)
- OMIM(601461)
- UniProtKB(Q92858)
- Open Targets Platform(ENSG00000172238)
- Search for ATOH1 at DataMed
- Search for ATOH1 at HumanCyc
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:
-
- 4q22.2 by HGNC
- 4q22.2 by Entrez Gene
- 4q22.2 by Ensembl
ATOH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ATOH1 Gene
Post-translational modifications for ATOH1 Gene
Other Protein References for ATOH1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ATOH1 / MATH-1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATOH1
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-
Abcam antibodies for ATOH1
- Invitrogen Antibodies for ATOH1 (AFLGC-Atoh1)
-
Boster Bio Antibodies for ATOH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATOH1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ATOH1
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- ProSpec Recombinant Proteins for ATOH1
- antibodies-online: Show 9 available ATOH1 Proteins ranked by validation data
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Abcam proteins for ATOH1
Assay Products
- antibodies-online: Show 6 available ATOH1 Elisa Kits ranked by validation data
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-
Quality Products:
-
Signalway ELISA kits for ATOH1
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)
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
| 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 |
Phenotypes for ATOH1 Gene
- MGI mutant phenotypes for ATOH1:
-
inferred from 10 alleles
- nervous system phenotype
- respiratory system phenotype
- normal phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for ATOH1:
Animal Models for ATOH1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATOH1 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ATOH1
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
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ATOH1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ATOH1
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Cell Line Products
-
Horizon Cell Lines 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
- Nucleus.
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATOH1 Gene
Pathways & Interactions for ATOH1 Gene
Interacting Proteins for ATOH1 Gene
GPS-Prot Interaction Network for ATOH1
| 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 | -- |
No data available for Pathways by source for ATOH1 Gene
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 :
-
- ENST00000306011 2212 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATOH1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATOH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATOH1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATOH1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATOH1
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Clone Products
- Applied Biological Materials (abm): Clones for ATOH1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ATOH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATOH1
Relevant External Links for ATOH1 Gene
- GeneLoc Exon Structure for
- ATOH1
Expression for ATOH1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells dP3 Neural Domain
- Oligodendrocyte Precursor Cells dP5 Neural Domain
- Oligodendrocyte Precursor Cells dP4 Neural Domain
- Hypothalamus
- Thalamus
-
Neural Tube (Nervous System)
- Oligodendrocyte Precursor Cells dP3 Neural Domain
- Oligodendrocyte Precursor Cells dP5 Neural Domain
- Oligodendrocyte Precursor Cells dP4 Neural Domain
- Metencephalic Alar Plate
- Rhombencephalon
-
Colon (Gastrointestinal Tract)
-
Spinal Cord (Nervous System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATOH1
SOURCE GeneReport for Unigene cluster for ATOH1 Gene:
Hs.532680Evidence on tissue expression from TISSUES for ATOH1 Gene
- Intestine(3)
- Nervous system(2.6)
- Lung(2.3)
- Eye(2.2)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for ATOH1
-
OriGene qPCR primer pairs and template standards for ATOH1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATOH1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATOH1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATOH1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atoh1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Atoh1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATOH1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATOH1 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | ATOH1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atoh1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atoh1a 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | ato 31 |
|
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
Paralogs for ATOH1 Gene
(3) SIMAP similar genes for ATOH1 Gene using alignment to 2 proteins:
- ATOH1_HUMAN
- Q6ISE7_HUMAN
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATOH1 Gene
Disorders for ATOH1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| goblet cell carcinoid |
|
|
| sensorineural hearing loss |
|
|
| merkel cell carcinoma |
|
|
| cerebellar liponeurocytoma |
|
|
| serous labyrinthitis |
|
|
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
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ATOH1 Gene
Publications for ATOH1 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for ATOH1 Gene
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- antibodies-online: Show 36 available ATOH1 Antibodies ranked by validation data
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- antibodies-online: Show 9 available ATOH1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for ATOH1
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- Boster Bio Antibodies for ATOH1
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Sources for ATOH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
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