Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | ISS | -- |
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 | -- |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
goblet cell carcinoid |
|
|
sensorineural hearing loss |
|
|
merkel cell carcinoma |
|
|
cerebellar liponeurocytoma |
|
|
serous labyrinthitis |
|
|