ATOH1

Protein identityUniProt · HPA

UniProt accession

Q92858

Gene

ATOH1

Ensembl

ENSG00000172238

Chromosome

4

Canonical length

354 aa

Protein class

Cancer-related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including neuron differentiation; positive regulation of neuron differentiation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; neuroblast migration; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in autosomal dominant nonsyndromic deafness 89. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

354 residues, UniProt reviewed canonical sequence.

>Q92858|ATOH1
     1  MSRLLHAEEW AEVKELGDHH RQPQPHHLPQ PPPPPQPPAT LQAREHPVYP PELSLLDSTD
    61  PRAWLAPTLQ GICTARAAQY LLHSPELGAS EAAAPRDEVD GRGELVRRSS GGASSSKSPG
   121  PVKVREQLCK LKGGVVVDEL GCSRQRAPSS KQVNGVQKQR RLAANARERR RMHGLNHAFD
   181  QLRNVIPSFN NDKKLSKYET LQMAQIYINA LSELLQTPSG GEQPPPPPAS CKSDHHHLRT
   241  AASYEGGAGN ATAAGAQQAS GGSQRPTPPG SCRTRFSAPA SAGGYSVQLD ALHFSTFEDS
   301  ALTAMMAQKN LSPSLPGSIL QPVQEENSKT SPRSHRSDGE FSPHSHYSDS DEAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATOH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.68

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATOH1.

Disease | AllUniProt

Conditions ATOH1 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 89 (DFNA89) MIM:620284

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dominant progressive sensorineural hearing loss
• Hearing loss, autosomal dominant 89

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.05

gnomAD pLI

0.02

gnomAD missense Z

-0.13

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon development
• axon guidance
• central nervous system development
• central nervous system neuron differentiation
• cerebral cortex development
• epithelial cell apoptotic process
• inner ear morphogenesis
• negative regulation of epithelial cell apoptotic process
• negative regulation of gliogenesis
• neuroblast migration
• neuron fate commitment
• neuron migration
• Notch signaling pathway
• positive regulation of inner ear auditory receptor cell differentiation
• positive regulation of neuron differentiation
• positive regulation of transcription by RNA polymerase II
• sensory organ development
• transcription by RNA polymerase II
• auditory receptor cell fate determination
• auditory receptor cell fate specification

Molecular functions

• chromatin DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• E-box binding
• protein dimerization activity
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Basic helix-loop-helix transcription factors
• Helix-loop-helix DNA-binding domain
• Transcription factor ATOH1, basic helix-loop-helix domain

KeywordsUniProt

• Activator
• Deafness
• Developmental protein
• Differentiation
• DNA-binding
• Neurogenesis
• Non-syndromic deafness
• Nucleus
• Transcription
• Transcription regulation