Q8N100 (ATOH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein atonal homolog 7

Alternative name(s):
Class A basic helix-loop-helix protein 13
Short name=bHLHa13
Helix-loop-helix protein hATH-5
Short name=hATH5

Gene names

Name:	ATOH7
Synonyms:	ATH5, BHLHA13

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	152 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcription factor involved in the differentiation of retinal ganglion cells By similarity.
Subcellular location	Nucleus Probable.
Involvement in disease	Retinal non-attachment, congenital, non-syndromic (RNANC) [MIM:221900]: A condition characterized by separation of the inner layers of the retina (neural retina) from the pigment epithelium. Clinical findings include lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise normal individuals. Note: The disease is caused by mutations affecting the gene represented in this entry. RNANC is caused by a 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7. Ref.4
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW circadian rhythm Inferred from electronic annotation. Source: Compara entrainment of circadian clock Inferred from electronic annotation. Source: Compara nervous system development Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 152	152	Protein atonal homolog 7		PRO_0000292406
Regions
	Domain	40 – 92	53	bHLH

Sequences

	Sequence		Length	Mass (Da)
	Q8N100 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 9E93E9E60E1697C5	FASTA	152	16,871
	10 20 30 40 50 60 MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER RRMQGLNTAF 70 80 90 100 110 120 DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE RFGSERDWVG LHCEHFGRDH 130 140 150 YLPFPGAKLP GESELYSQRL FGFQPEPFQM AT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development." Brown N.L., Dagenais S.L., Chen C.-M., Glaser T. Mamm. Genome 13:95-101(2002) [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]. Tissue: Eye.
[3]	"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening." McLellan A.S., Langlands K., Kealey T. Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[4]	"Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease." Ghiasvand N.M., Rudolph D.D., Mashayekhi M., Brzezinski J.A., Goldman D., Glaser T. Nat. Neurosci. 14:578-586(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN RNANC.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF418922 Genomic DNA. Translation: AAL11911.1. BC032621 mRNA. Translation: AAH32621.1. BK000277 mRNA. Translation: DAA01057.1.
IPI	IPI00166032.
RefSeq	NP_660161.1. NM_145178.3.
UniGene	Hs.175396. Hs.737072.
3D structure databases
HSSP	HSSP built from PDB template 1HLO based on UniProtKB P61244.
ProteinModelPortal	Q8N100.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362777.
PTM databases
PhosphoSite	Q8N100.
Polymorphism databases
DMDM	74750873.
Proteomic databases
PaxDb	Q8N100.
PRIDE	Q8N100.
Protocols and materials databases
DNASU	220202.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373673; ENSP00000362777; ENSG00000179774.
GeneID	220202.
KEGG	hsa:220202.
UCSC	uc001jnq.3. human.
Organism-specific databases
CTD	220202.
GeneCards	GC10M069990.
HGNC	HGNC:13907. ATOH7.
HPA	HPA027008.
MIM	221900. phenotype. 609875. gene.
neXtProt	NX_Q8N100.
Orphanet	300337. Congenital blindness due to retinal nonattachment. 289499. Congenital cataract microcornea with corneal opacity.
PharmGKB	PA38369.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG320395.
HOGENOM	HOG000034180.
HOVERGEN	HBG094840.
InParanoid	Q8N100.
KO	K09083.
OMA	HYLPFAG.
OrthoDB	EOG4N30QJ.
Gene expression databases
ArrayExpress	Q8N100.
Bgee	Q8N100.
CleanEx	HS_ATOH7.
Genevestigator	Q8N100.
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	220202.
NextBio	91026.
SOURCE	Search...

Entry information

Entry name

ATOH7_HUMAN

Accession

Primary (citable) accession number: Q8N100

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 87 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.