ATOH1 atonal bHLH transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATOH1provided by HGNC
Official Full Name: atonal bHLH transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:797
See related: Ensembl:ENSG00000172238 MIM:601461; AllianceGenome:HGNC:797
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATH1; HATH1; DFNA89; MATH-1; bHLHa14
Summary: 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. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 4q22.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (93828753..93830964)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (97144124..97146335)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (94749904..94752115)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

S-100 and MATH-1 Protein Expressions Can Be Useful for the Prediction of Clinical Outcome in Neuroblastoma Patients.
Title: S-100 and MATH-1 Protein Expressions Can Be Useful for the Prediction of Clinical Outcome in Neuroblastoma Patients.
Small activating RNA activation of ATOH1 promotes regeneration of human inner ear hair cells.
Title: Small activating RNA activation of ATOH1 promotes regeneration of human inner ear hair cells.
LGR5, HES1 and ATOH1 in Young Rectal Cancer Patients in Egyptian.
Title: LGR5, HES1 and ATOH1 in Young Rectal Cancer Patients in Egyptian.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Title: Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Intestinal phenotype is maintained by Atoh1 in the cancer region of intraductal papillary mucinous neoplasm.
Title: Intestinal phenotype is maintained by Atoh1 in the cancer region of intraductal papillary mucinous neoplasm.
this study shows that ATOH1 can be regarded as a lineage-dependent oncogene in Merkel cell carcinoma
Title: MCPyV Large T Antigen-Induced Atonal Homolog 1 Is a Lineage-Dependency Oncogene in Merkel Cell Carcinoma.
The increased expression of ATOH1 mRNA after LKB1 loss from human Ls174t cells did not involve Notch or Wnt signaling. Knockdown of PDK4 reduced the up-regulation of ATOH1 mRNA after LKB1 knockdown in Ls174t cells. Cells with LKB1 knockdown had a reduced rate of oxygen consumption, which was partially restored by PDK4 inhibition with dichloroacetate, suggesting that LKB1 represses transcription of ATOH1 via PDK4.
Title: LKB1 Represses ATOH1 via PDK4 and Energy Metabolism and Regulates Intestinal Stem Cell Fate.
Atoh1 promotes ciliogenesis by transcriptionally regulating Cep131, which facilitates centriolar satellite clustering to the basal body
Title: Atoh1 Controls Primary Cilia Formation to Allow for SHH-Triggered Granule Neuron Progenitor Proliferation.
ATOH1 role in colon cancer.Positive ATOH1 expression in colon cancer tissues was significantly associated with lower grade and better overall survival.ATOH1 was the target mRNA of miR-613.
Title: MicroRNA-613 promotes colon cancer cell proliferation, invasion and migration by targeting ATOH1.
Data indicate that transcription factor atonal bHLH transcription factor 1 protein (Atoh1) is critical for hair cell development and regeneration [Review].
Title: Atoh1 and other related key regulators in the development of auditory sensory epithelium in the mammalian inner ear: function and interplay.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hearing loss, autosomal dominant 89 MedGen: C5830357 OMIM: 620284 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ATOH1_309 (e-PCR)
- UniSTS:277018

NoName (e-PCR)
- UniSTS:480821

GDB:314993 (e-PCR)
- UniSTS:156508

SHGC-67257 (e-PCR)
- UniSTS:5215

RH70687 (e-PCR)
- UniSTS:57710

NoName (e-PCR)
- UniSTS:483276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in auditory receptor cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in auditory receptor cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gliogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuroblast migration	IEA Inferred from Electronic Annotation more info
involved_in neuron fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transcription factor ATOH1

Names: atonal homolog 1; atonal homolog bHLH transcription factor 1; basic helix-loop-helix family member a14; class A basic helix-loop-helix protein 14; helix-loop-helix protein hATH-1; protein atonal homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005172.2 → NP_005163.1 transcription factor ATOH1

See identical proteins and their annotated locations for NP_005163.1

Status: REVIEWED

Source sequence(s)

AC087413, BC113625

Consensus CDS

CCDS3638.1

UniProtKB/Swiss-Prot

Q14CT9, Q92858

UniProtKB/TrEMBL

Q6ISE7

Related

ENSP00000302216.4, ENST00000306011.6

Conserved Domains (1) summary

cd00083
Location:158 → 216

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...