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 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATOH1 Gene
Genomics for ATOH1 Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J093828 | Enhancer | 1 | Ensembl ENCODE | 650.7 | +0.1 | 115 | 1.3 | PKNOX1 ARNT SIN3A FEZF1 ZNF335 GLIS2 SCRT2 ZFP91 ZBTB11 ZNF398 | ATOH1 GC04P093852 | |
| GH04J093829 | Enhancer | 0.5 | Ensembl | 650.7 | +0.9 | 948 | 0.2 | KLF1 ZNF341 SCRT2 ZNF223 KLF9 EZH2 ZBTB20 | ATOH1 GC04P093852 | |
| GH04J093827 | Enhancer | 0.5 | ENCODE | 650.7 | -1.3 | -1268 | 0.2 | SCRT2 SIN3A CTBP2 EZH2 | ATOH1 RNA5SP164 | |
| GH04J093835 | Enhancer | 0.5 | ENCODE | 0.4 | +5.8 | 5839 | 0.2 | SP1 SIN3A CTBP2 EZH2 | ATOH1 GC04P093852 | |
| GH04J093834 | Enhancer | 0.4 | ENCODE | 0.4 | +6.2 | 6242 | 0.1 | ZNF143 CTBP2 | 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:
-
- Nkx2-5
- SRF (504 AA)
- SRF
- SRY
- STAT3
- NCX
- FOXO3
- FOXO3a
- FOXO3b
- p53
Regulatory Element Products
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 Entrez Gene
- 4q22.2 by HGNC
- 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
-
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-
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Assay Products
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Quality Products:
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
No data available for 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 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| 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 |
Phenotypes for ATOH1 Gene
- MGI mutant phenotypes for ATOH1:
-
inferred from 10 alleles
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- GenomeRNAi human phenotypes for ATOH1:
Animal Models for ATOH1 Gene
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-
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-
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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
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATOH1
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATOH1 Gene
Pathways & Interactions for ATOH1 Gene
No Data Available
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: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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for ATOH1 Gene
Transcripts for ATOH1 Gene
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 :
-
- ENST00000306011 2212 bps (uc003hta.2)
Unigene Clusters for ATOH1 Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATOH1
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miRNA Products
Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATOH1
- Applied Biological Materials Clones for ATOH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of ATOH1 Gene:
ATOH1SOURCE GeneReport for Unigene cluster for ATOH1 Gene:
Hs.532680Evidence on tissue expression from TISSUES for ATOH1 Gene
- Intestine(2.6)
- Nervous system(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for ATOH1
-
OriGene qPCR primer pairs 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATOH1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATOH1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Atoh1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Atoh1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATOH1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATOH1 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ATOH1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atoh1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atoh1a 34 33 |
|
OneToOne | |
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | ato 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATOH1: view image
Paralogs for ATOH1 Gene
Variants 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 |
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 |
|
|
| adult medulloblastoma |
|
|
| cerebellum cancer |
|
|
| cerebellar liponeurocytoma |
|
|
| merkel cell carcinoma |
|
|
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
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 58
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 141 available ATOH1 Antibodies ranked by validation data
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Sources for ATOH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
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