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Q8N100

- ATOH7_HUMAN

UniProt

Q8N100 - ATOH7_HUMAN

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Protein

Protein atonal homolog 7

Gene

ATOH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript 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-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]: A 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.1 Publication
Note: 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).

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.
OMAiSLHCEHF.
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

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.

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 .
CCDSi CCDS7276.1.
RefSeqi NP_660161.1. NM_145178.3.
UniGenei Hs.175396.
Hs.737072.

3D structure databases

ProteinModelPortali Q8N100.
SMRi Q8N100. Positions 41-96.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128637. 1 interaction.
STRINGi 9606.ENSP00000362777.

PTM databases

PhosphoSitei Q8N100.

Polymorphism databases

DMDMi 74750873.

Proteomic databases

PaxDbi Q8N100.
PRIDEi Q8N100.

Protocols and materials databases

DNASUi 220202.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373673 ; ENSP00000362777 ; ENSG00000179774 .
GeneIDi 220202.
KEGGi hsa:220202.
UCSCi uc001jnq.3. human.

Organism-specific databases

CTDi 220202.
GeneCardsi GC10M069990.
HGNCi HGNC:13907. ATOH7.
HPAi HPA027008.
MIMi 221900. phenotype.
609875. gene.
neXtProti NX_Q8N100.
Orphaneti 300337. Congenital blindness due to retinal non-attachment.
289499. Congenital cataract microcornea with corneal opacity.
91495. Persistent hyperplastic primary vitreous.
PharmGKBi PA38369.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG320395.
GeneTreei ENSGT00680000099860.
HOGENOMi HOG000034180.
HOVERGENi HBG094840.
InParanoidi Q8N100.
KOi K09083.
OMAi SLHCEHF.
OrthoDBi EOG7PGDSD.
PhylomeDBi Q8N100.
TreeFami TF315153.

Miscellaneous databases

GenomeRNAii 220202.
NextBioi 91026.
PROi Q8N100.
SOURCEi Search...

Gene expression databases

Bgeei Q8N100.
CleanExi HS_ATOH7.
ExpressionAtlasi Q8N100. baseline and differential.
Genevestigatori Q8N100.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: October 29, 2014
This is version 100 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3