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Protein

Protein atonal homolog 7

Gene

ATOH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000179774.8
HGNCiHGNC:13907 ATOH7
MIMi609875 gene
neXtProtiNX_Q8N100

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs587777666EnsemblClinVar.1
Natural variantiVAR_07240049E → V in PHPVAR. 1 PublicationCorresponds to variant dbSNP:rs587777664EnsemblClinVar.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
PeptideAtlasiQ8N100
PRIDEiQ8N100

PTM databases

iPTMnetiQ8N100
PhosphoSitePlusiQ8N100

Expressioni

Gene expression databases

BgeeiENSG00000179774
CleanExiHS_ATOH7
ExpressionAtlasiQ8N100 baseline and differential
GenevisibleiQ8N100 HS

Organism-specific databases

HPAiHPA027008

Interactioni

GO - Molecular functioni

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

Phylogenomic databases

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

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR032663 Atoh7
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PANTHERiPTHR19290:SF99 PTHR19290:SF99, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

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 dbSNP:rs587777666EnsemblClinVar.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 dbSNP:rs587777664EnsemblClinVar.1
Natural variantiVAR_07240165R → G Polymorphism; does not affect DNA-binding activity or transcription activation. 2 PublicationsCorresponds to variant dbSNP:rs111699024Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiATOH7_HUMAN
AccessioniPrimary (citable) accession number: Q8N100
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 123 of the entry and version 1 of the sequence. See 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

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