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Protein

Protein atonal homolog 7

Gene

ATOH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in the differentiation of retinal ganglion cells.By similarity

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • circadian rhythm Source: Ensembl
  • entrainment of circadian clock Source: Ensembl
  • neural retina development Source: MGI
  • optic nerve development Source: MGI
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179774-MONOMER.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ATOH7
Synonyms:ATH5, BHLHA13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:13907. ATOH7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919).1 Publication
Disease descriptionA developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.
See also OMIM:221900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07239846N → H in PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant. 1 PublicationCorresponds to variant rs587777666dbSNPEnsembl.1
Natural variantiVAR_07240049E → V in PHPVAR. 1 PublicationCorresponds to variant rs587777664dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi56L → P: Loss of DNA-binding activity; loss of ability to restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi220202.
MalaCardsiATOH7.
MIMi221900. phenotype.
OpenTargetsiENSG00000179774.
Orphaneti300337. Congenital blindness due to retinal non-attachment.
289499. Congenital cataract microcornea with corneal opacity.
91495. Persistent hyperplastic primary vitreous.
PharmGKBiPA38369.

Polymorphism and mutation databases

BioMutaiATOH7.
DMDMi74750873.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002924061 – 152Protein atonal homolog 7Add BLAST152

Proteomic databases

PaxDbiQ8N100.
PRIDEiQ8N100.

PTM databases

iPTMnetiQ8N100.
PhosphoSitePlusiQ8N100.

Expressioni

Gene expression databases

BgeeiENSG00000179774.
CleanExiHS_ATOH7.
ExpressionAtlasiQ8N100. baseline and differential.
GenevisibleiQ8N100. HS.

Organism-specific databases

HPAiHPA027008.

Interactioni

Protein-protein interaction databases

IntActiQ8N100. 1 interactor.
STRINGi9606.ENSP00000362777.

Structurei

3D structure databases

ProteinModelPortaliQ8N100.
SMRiQ8N100.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 92bHLHPROSITE-ProRule annotationAdd BLAST53

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4395. Eukaryota.
ENOG411269K. LUCA.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000034180.
HOVERGENiHBG094840.
InParanoidiQ8N100.
KOiK09083.
OMAiHYLPFAG.
OrthoDBiEOG091G0R1N.
PhylomeDBiQ8N100.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR032663. Atoh7.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR19290:SF99. PTHR19290:SF99. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N100-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER
60 70 80 90 100
RRMQGLNTAF DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE
110 120 130 140 150
RFGSERDWVG LHCEHFGRDH YLPFPGAKLP GESELYSQRL FGFQPEPFQM

AT
Length:152
Mass (Da):16,871
Last modified:October 1, 2002 - v1
Checksum:i9E93E9E60E1697C5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07239846N → H in PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant. 1 PublicationCorresponds to variant rs587777666dbSNPEnsembl.1
Natural variantiVAR_07239947A → T Polymorphism; does not affect DNA-binding activity but reduces transcription activation. 2 Publications1
Natural variantiVAR_07240049E → V in PHPVAR. 1 PublicationCorresponds to variant rs587777664dbSNPEnsembl.1
Natural variantiVAR_07240165R → G Polymorphism; does not affect DNA-binding activity or transcription activation. 2 PublicationsCorresponds to variant rs111699024dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF418922 Genomic DNA. Translation: AAL11911.1.
BC032621 mRNA. Translation: AAH32621.1.
BK000277 mRNA. Translation: DAA01057.1.
CCDSiCCDS7276.1.
RefSeqiNP_660161.1. NM_145178.3.
UniGeneiHs.175396.
Hs.737072.

Genome annotation databases

EnsembliENST00000373673; ENSP00000362777; ENSG00000179774.
GeneIDi220202.
KEGGihsa:220202.
UCSCiuc001jnq.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF418922 Genomic DNA. Translation: AAL11911.1.
BC032621 mRNA. Translation: AAH32621.1.
BK000277 mRNA. Translation: DAA01057.1.
CCDSiCCDS7276.1.
RefSeqiNP_660161.1. NM_145178.3.
UniGeneiHs.175396.
Hs.737072.

3D structure databases

ProteinModelPortaliQ8N100.
SMRiQ8N100.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N100. 1 interactor.
STRINGi9606.ENSP00000362777.

PTM databases

iPTMnetiQ8N100.
PhosphoSitePlusiQ8N100.

Polymorphism and mutation databases

BioMutaiATOH7.
DMDMi74750873.

Proteomic databases

PaxDbiQ8N100.
PRIDEiQ8N100.

Protocols and materials databases

DNASUi220202.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373673; ENSP00000362777; ENSG00000179774.
GeneIDi220202.
KEGGihsa:220202.
UCSCiuc001jnq.4. human.

Organism-specific databases

CTDi220202.
DisGeNETi220202.
GeneCardsiATOH7.
HGNCiHGNC:13907. ATOH7.
HPAiHPA027008.
MalaCardsiATOH7.
MIMi221900. phenotype.
609875. gene.
neXtProtiNX_Q8N100.
OpenTargetsiENSG00000179774.
Orphaneti300337. Congenital blindness due to retinal non-attachment.
289499. Congenital cataract microcornea with corneal opacity.
91495. Persistent hyperplastic primary vitreous.
PharmGKBiPA38369.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4395. Eukaryota.
ENOG411269K. LUCA.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000034180.
HOVERGENiHBG094840.
InParanoidiQ8N100.
KOiK09083.
OMAiHYLPFAG.
OrthoDBiEOG091G0R1N.
PhylomeDBiQ8N100.
TreeFamiTF315153.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000179774-MONOMER.

Miscellaneous databases

GenomeRNAii220202.
PROiQ8N100.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179774.
CleanExiHS_ATOH7.
ExpressionAtlasiQ8N100. baseline and differential.
GenevisibleiQ8N100. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR032663. Atoh7.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR19290:SF99. PTHR19290:SF99. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATOH7_HUMAN
AccessioniPrimary (citable) accession number: Q8N100
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.