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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

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. circadian rhythm Source: Ensembl
  3. entrainment of circadian clock Source: Ensembl
  4. neural retina development Source: MGI
  5. optic nerve development Source: MGI
  6. regulation of transcription, DNA-templated Source: UniProtKB-KW
  7. 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

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:13907. ATOH7.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Persistent hyperplastic primary vitreous, autosomal recessive3 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).

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461N → 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 Publication
VAR_072398
Natural varianti49 – 491E → V in PHPVAR. 1 Publication
VAR_072400

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi56 – 561L → 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 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 152152Protein atonal homolog 7PRO_0000292406Add
BLAST

Proteomic databases

PaxDbiQ8N100.
PRIDEiQ8N100.

PTM databases

PhosphoSiteiQ8N100.

Expressioni

Gene expression databases

BgeeiQ8N100.
CleanExiHS_ATOH7.
ExpressionAtlasiQ8N100. baseline and differential.
GenevestigatoriQ8N100.

Organism-specific databases

HPAiHPA027008.

Interactioni

Protein-protein interaction databases

BioGridi128637. 1 interaction.
STRINGi9606.ENSP00000362777.

Structurei

3D structure databases

ProteinModelPortaliQ8N100.
SMRiQ8N100. Positions 41-96.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 9253bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG320395.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000034180.
HOVERGENiHBG094840.
InParanoidiQ8N100.
KOiK09083.
OMAiHYLPFAG.
OrthoDBiEOG7PGDSD.
PhylomeDBiQ8N100.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461N → 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 Publication
VAR_072398
Natural varianti47 – 471A → T Polymorphism; does not affect DNA-binding activity but reduces transcription activation. 2 Publications
VAR_072399
Natural varianti49 – 491E → V in PHPVAR. 1 Publication
VAR_072400
Natural varianti65 – 651R → G Polymorphism; does not affect DNA-binding activity or transcription activation. 2 Publications
VAR_072401

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.3. human.

Polymorphism databases

DMDMi74750873.

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. Positions 41-96.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128637. 1 interaction.
STRINGi9606.ENSP00000362777.

PTM databases

PhosphoSiteiQ8N100.

Polymorphism databases

DMDMi74750873.

Proteomic databases

PaxDbiQ8N100.
PRIDEiQ8N100.

Protocols and materials databases

DNASUi220202.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373673; ENSP00000362777; ENSG00000179774.
GeneIDi220202.
KEGGihsa:220202.
UCSCiuc001jnq.3. human.

Organism-specific databases

CTDi220202.
GeneCardsiGC10M069990.
HGNCiHGNC:13907. ATOH7.
HPAiHPA027008.
MIMi221900. phenotype.
609875. gene.
neXtProtiNX_Q8N100.
Orphaneti300337. Congenital blindness due to retinal non-attachment.
289499. Congenital cataract microcornea with corneal opacity.
91495. Persistent hyperplastic primary vitreous.
PharmGKBiPA38369.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG320395.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000034180.
HOVERGENiHBG094840.
InParanoidiQ8N100.
KOiK09083.
OMAiHYLPFAG.
OrthoDBiEOG7PGDSD.
PhylomeDBiQ8N100.
TreeFamiTF315153.

Miscellaneous databases

GenomeRNAii220202.
NextBioi91026.
PROiQ8N100.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N100.
CleanExiHS_ATOH7.
ExpressionAtlasiQ8N100. baseline and differential.
GenevestigatoriQ8N100.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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 PHPVAR.
  5. Cited for: VARIANTS THR-47 AND GLY-65.
  6. Cited for: VARIANT PHPVAR VAL-49.
  7. Cited for: VARIANT PHPVAR HIS-46, CHARACTERIZATION OF VARIANT PHPVAR HIS-46, VARIANTS THR-47 AND GLY-65, CHARACTERIZATION OF VARIANTS THR-47 AND GLY-65, MUTAGENESIS OF LEU-56.

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: February 4, 2015
This is version 102 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

External Data

Dasty 3

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 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.