Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	474
Gene name	Atonal bHLH transcription factor 1
Gene symbol	ATOH1
Synonyms (NCBI Gene)	ATH1DFNA89HATH1MATH-1bHLHa14
Chromosome	4
Chromosome location	4q22.2
Summary	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]

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1578814396	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017641	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8872459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8872459
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	TAS	8872459
GO:0007420	Process	Brain development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0014014	Process	Negative regulation of gliogenesis	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042667	Process	Auditory receptor cell fate specification	IEA
GO:0042668	Process	Auditory receptor cell fate determination	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045609	Process	Positive regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048663	Process	Neuron fate commitment	IBA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:0097402	Process	Neuroblast migration	IEA
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000982	Process	Positive regulation of inner ear receptor cell differentiation	IEA

MIM	HGNC	e!Ensembl
601461	797	ENSG00000172238

Q92858

Protein name

Transcription factor ATOH1 (Atonal bHLH transcription factor 1) (Class A basic helix-loop-helix protein 14) (bHLHa14) (Helix-loop-helix protein hATH-1) (hATH1) (Protein atonal homolog 1)

Protein 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 neura

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	160 → 212	Helix-loop-helix DNA-binding domain	Domain

Sequence

MSRLLHAEEWAEVKELGDHHRQPQPHHLPQPPPPPQPPATLQAREHPVYPPELSLLDSTD
PRAWLAPTLQGICTARAAQYLLHSPELGASEAAAPRDEVDGRGELVRRSSGGASSSKSPG
PVKVREQLCKLKGGVVVDELGCSRQRAPSSKQVNGVQKQRRLAANARERRRMHGLNHAFD
QLRNVIPSFNNDKKLSKYETLQMAQIYINALSELLQTPSGGEQPPPPPASCKSDHHHLRT
AASYEGGAGNATAAGAQQASGGSQRPTPPGSCRTRFSAPASAGGYSVQLDALHFSTFEDS
ALTAMMAQKNLSPSLPGSILQPVQEENSKTSPRSHRSDGEFSPHSHYSDSDEAS

Sequence length

354

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dominant progressive sensorineural hearing loss	Pathogenic	rs1578814396	RCV001004788
Hearing loss, autosomal dominant 89	Pathogenic	rs1578814396	RCV003152615

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ATOH1-related disorder	Uncertain significance; Likely benign; Benign	rs200577041, rs2547283642, rs537422021, rs142870406, rs777576567, rs752679675, rs138388359, rs35182771, rs35227734, rs115524348, rs34543561	RCV003906574 RCV003404698 RCV003397619 RCV003921760 RCV003941745 RCV003931582 RCV003959007 RCV003978247 RCV003933245 RCV003962835 RCV003905888
Global developmental delay	Uncertain significance	rs1735397735	RCV001095791
Hearing loss	Uncertain significance	rs1735397735	RCV001095791
Pontoneocerebellar hypoplasia	Uncertain significance	rs1735397735	RCV001095791
See cases	Uncertain significance	rs1735397735	RCV001199129

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	33600825
Adenocarcinoma	Associate	17549667
Adenocarcinoma Mucinous	Associate	26017781, 34582650
Ataxia	Associate	29740017
Barrett Esophagus	Associate	19789031, 22147253
Carcinogenesis	Associate	25400808, 31283928
Carcinoma Merkel Cell	Associate	31283928, 33600825
Carcinoma Squamous Cell	Inhibit	26648003
Colitis Associated Neoplasms	Associate	26017781
Colitis Ulcerative	Stimulate	34418586
Colonic Neoplasms	Associate	23409082
Colorectal Neoplasms	Associate	23409082, 26017781
Deafness	Associate	33111345
Epilepsies Myoclonic	Associate	29740017
Gastrointestinal Stromal Tumors	Associate	25400808
Hearing Loss	Associate	33111345
Hearing Loss Sensorineural	Associate	29740017
Intestinal Diseases	Associate	22449796
Lung Neoplasms	Associate	17549667
MERRF Syndrome	Associate	29740017
Neoplasms	Inhibit	23409082, 25400808, 26648003
Neoplasms	Associate	26017781
Nerve Degeneration	Stimulate	24904172
Neurodegenerative Diseases	Associate	24904172
Neuroendocrine Tumors	Associate	17549667, 35688945
Parkinson Disease	Associate	24904172
Prostatic Neoplasms	Associate	33279858
Rectal Neoplasms	Associate	34582650
Small Cell Lung Carcinoma	Associate	17549667

ATOH1 (atonal bHLH transcription factor 1)