Q92858 (ATOH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein atonal homolog 1

Alternative name(s):
Class A basic helix-loop-helix protein 14
Short name=bHLHa14
Helix-loop-helix protein hATH-1
Short name=hATH1

Gene names

Name:	ATOH1
Synonyms:	ATH1, BHLHA14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	354 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Inferred from electronic annotation. Source: Compara auditory receptor cell fate determination Inferred from electronic annotation. Source: Compara auditory receptor cell fate specification Inferred from electronic annotation. Source: Compara axon guidance Inferred from electronic annotation. Source: Compara central nervous system development Traceable author statement Ref.1. Source: ProtInc cerebral cortex development Inferred from electronic annotation. Source: Compara inner ear morphogenesis Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara positive regulation of auditory receptor cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara transcription from RNA polymerase II promoter Traceable author statement Ref.1. Source: ProtInc
Cellular_component	nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	chromatin DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 354	354	Protein atonal homolog 1		PRO_0000127139
Regions
	Domain	159 – 211	53	bHLH
	Compositional bias	29 – 38	10	Poly-Pro
	Compositional bias	224 – 228	5	Poly-Pro
Natural variations
	Natural variant	237	1	H → Q. Corresponds to variant rs35182771 [ dbSNP | Ensembl ].		VAR_049539

Sequences

	Sequence		Length	Mass (Da)
	Q92858 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: AB12F1E917A00A8D	FASTA	354	38,160
	10 20 30 40 50 60 MSRLLHAEEW AEVKELGDHH RQPQPHHLPQ PPPPPQPPAT LQAREHPVYP PELSLLDSTD 70 80 90 100 110 120 PRAWLAPTLQ GICTARAAQY LLHSPELGAS EAAAPRDEVD GRGELVRRSS GGASSSKSPG 130 140 150 160 170 180 PVKVREQLCK LKGGVVVDEL GCSRQRAPSS KQVNGVQKQR RLAANARERR RMHGLNHAFD 190 200 210 220 230 240 QLRNVIPSFN NDKKLSKYET LQMAQIYINA LSELLQTPSG GEQPPPPPAS CKSDHHHLRT 250 260 270 280 290 300 AASYEGGAGN ATAAGAQQAS GGSQRPTPPG SCRTRFSAPA SAGGYSVQLD ALHFSTFEDS 310 320 330 340 350 ALTAMMAQKN LSPSLPGSIL QPVQEENSKT SPRSHRSDGE FSPHSHYSDS DEAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis." Ben-Arie N., McCall A.E., Berkman S., Eichele G., Bellen H.J., Zoghbi H.Y. Hum. Mol. Genet. 5:1207-1216(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U61148 Genomic DNA. Translation: AAB41305.1. BC069145 mRNA. Translation: AAH69145.1. BC069594 mRNA. Translation: AAH69594.1. BC069604 mRNA. Translation: AAH69604.1. BC113623 mRNA. Translation: AAI13624.1. BC113625 mRNA. Translation: AAI13626.1.
IPI	IPI00023811.
RefSeq	NP_005163.1. NM_005172.1.
UniGene	Hs.532680.
3D structure databases
ProteinModelPortal	Q92858.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000302216.
PTM databases
PhosphoSite	Q92858.
Polymorphism databases
DMDM	3913115.
Proteomic databases
PaxDb	Q92858.
PRIDE	Q92858.
Protocols and materials databases
DNASU	474.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306011; ENSP00000302216; ENSG00000172238.
GeneID	474.
KEGG	hsa:474.
UCSC	uc003hta.1. human.
Organism-specific databases
CTD	474.
GeneCards	GC04P094750.
HGNC	HGNC:797. ATOH1.
MIM	601461. gene.
neXtProt	NX_Q92858.
PharmGKB	PA25095.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267878.
HOGENOM	HOG000261611.
HOVERGEN	HBG050609.
InParanoid	Q92858.
KO	K09083.
OMA	HSHYSDS.
OrthoDB	EOG4PNXJ0.
PhylomeDB	Q92858.
Gene expression databases
ArrayExpress	Q92858.
Bgee	Q92858.
CleanEx	HS_ATOH1.
Genevestigator	Q92858.
GermOnline	ENSG00000172238. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	474.
NextBio	1963.
SOURCE	Search...

Entry information

Entry name

ATOH1_HUMAN

Accession

Primary (citable) accession number: Q92858
Secondary accession number(s): Q14CT9

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	February 1, 1997
Last modified:	May 1, 2013
This is version 111 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.