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Q8N100 (ATOH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length152 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 152152Protein atonal homolog 7
PRO_0000292406

Regions

Domain40 – 9253bHLH

Sequences

Sequence LengthMass (Da)Tools
Q8N100 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 9E93E9E60E1697C5

FASTA15216,871
        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 

« Hide

References

« Hide '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.
RefSeqNP_660161.1. NM_145178.3.
UniGeneHs.175396.
Hs.737072.

3D structure databases

ProteinModelPortalQ8N100.
SMRQ8N100. Positions 41-96.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128637. 1 interaction.
STRING9606.ENSP00000362777.

PTM databases

PhosphoSiteQ8N100.

Polymorphism databases

DMDM74750873.

Proteomic databases

PaxDbQ8N100.
PRIDEQ8N100.

Protocols and materials databases

DNASU220202.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373673; ENSP00000362777; ENSG00000179774.
GeneID220202.
KEGGhsa:220202.
UCSCuc001jnq.3. human.

Organism-specific databases

CTD220202.
GeneCardsGC10M069990.
HGNCHGNC:13907. ATOH7.
HPAHPA027008.
MIM221900. phenotype.
609875. gene.
neXtProtNX_Q8N100.
Orphanet300337. Congenital blindness due to retinal non-attachment.
289499. Congenital cataract microcornea with corneal opacity.
91495. Persistent hyperplastic primary vitreous.
PharmGKBPA38369.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320395.
HOGENOMHOG000034180.
HOVERGENHBG094840.
InParanoidQ8N100.
KOK09083.
OMAHYLPFAG.
OrthoDBEOG7PGDSD.
PhylomeDBQ8N100.
TreeFamTF315153.

Gene expression databases

ArrayExpressQ8N100.
BgeeQ8N100.
CleanExHS_ATOH7.
GenevestigatorQ8N100.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi220202.
NextBio91026.
PROQ8N100.
SOURCESearch...

Entry information

Entry nameATOH7_HUMAN
AccessionPrimary (citable) accession number: Q8N100
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM