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Q8N100

- ATOH7_HUMAN

UniProt

Q8N100 - ATOH7_HUMAN

Protein

Protein atonal homolog 7

Gene

ATOH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. 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

    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

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    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.

    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

    ArrayExpressiQ8N100.
    BgeeiQ8N100.
    CleanExiHS_ATOH7.
    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.
    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

    MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER    50
    RRMQGLNTAF DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE 100
    RFGSERDWVG LHCEHFGRDH YLPFPGAKLP GESELYSQRL FGFQPEPFQM 150
    AT 152
    Length:152
    Mass (Da):16,871
    Last modified:October 1, 2002 - v1
    Checksum:i9E93E9E60E1697C5
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi Q8N100.
    Bgeei Q8N100.
    CleanExi HS_ATOH7.
    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

    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.

    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 1, 2014
    This is version 99 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