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Q96SQ7

- ATOH8_HUMAN

UniProt

Q96SQ7 - ATOH8_HUMAN

Protein

Protein atonal homolog 8

Gene

ATOH8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (03 Mar 2009)
      Previous versions | rss
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    Functioni

    Putative transcription factor. May be implicated in specification and differentiation of neuronal cell lineages in the brain. May participate in kidney development and may be involved in podocyte differentiation By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. nervous system development Source: UniProtKB-KW
    3. regulation of transcription, DNA-templated Source: UniProtKB-KW
    4. 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 8
    Alternative name(s):
    Class A basic helix-loop-helix protein 21
    Short name:
    bHLHa21
    Helix-loop-helix protein hATH-6
    Short name:
    hATH6
    Gene namesi
    Name:ATOH8
    Synonyms:ATH6, BHLHA21
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:24126. ATOH8.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134904746.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 321321Protein atonal homolog 8PRO_0000323751Add
    BLAST

    Proteomic databases

    PaxDbiQ96SQ7.
    PRIDEiQ96SQ7.

    Expressioni

    Tissue specificityi

    Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels.1 Publication

    Gene expression databases

    BgeeiQ96SQ7.
    CleanExiHS_ATOH8.
    GenevestigatoriQ96SQ7.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.By similarity

    Protein-protein interaction databases

    BioGridi124350. 2 interactions.
    IntActiQ96SQ7. 1 interaction.
    STRINGi9606.ENSP00000304676.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96SQ7.
    SMRiQ96SQ7. Positions 231-285.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini230 – 28253bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi69 – 187119Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG311369.
    HOGENOMiHOG000034181.
    HOVERGENiHBG095605.
    KOiK09084.
    OMAiETQPFRE.
    OrthoDBiEOG73NG5F.
    PhylomeDBiQ96SQ7.
    TreeFamiTF324848.

    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96SQ7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKHIPVLEDG PWKTVCVKEL NGLKKLKRKG KEPARRANGY KTFRLDLEAP    50
    EPRAVATNGL RDRTHRLQPV PVPVPVPVPV APAVPPRGGT DTAGERGGSR 100
    APEVSDARKR CFALGAVGPG LPTPPPPPPP APQSQAPGGP EAQPFREPGL 150
    RPRILLCAPP ARPAPSAPPA PPAPPESTVR PAPPTRPGES SYSSISHVIY 200
    NNHQDSSASP RKRPGEATAA SSEIKALQQT RRLLANARER TRVHTISAAF 250
    EALRKQVPCY SYGQKLSKLA ILRIACNYIL SLARLADLDY SADHSNLSFS 300
    ECVQRCTRTL QAEGRAKKRK E 321
    Length:321
    Mass (Da):34,644
    Last modified:March 3, 2009 - v2
    Checksum:i6AEC8043AD8D2075
    GO
    Isoform 2 (identifier: Q96SQ7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         321-321: E → SLIITQDTTA...PPLRARRPPH

    Note: No experimental confirmation available.

    Show »
    Length:416
    Mass (Da):45,801
    Checksum:iAF58E6215A2DB518
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501L → P.3 Publications
    Corresponds to variant rs17851881 [ dbSNP | Ensembl ].
    VAR_039582

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei321 – 3211E → SLIITQDTTARAAGLEAAGK TVQKVLCERGNSLMNNRTGR RKSWRLEFLFLRRRCFLLTF YLWFLFFSRFLLMLFLPLLT SVVTFLPPLRARRPPH in isoform 2. 1 PublicationVSP_032118

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529205 mRNA. Translation: AAO85773.1.
    AK027614 mRNA. Translation: BAB55233.1.
    AK074681 mRNA. Translation: BAC11135.1.
    AC012454 Genomic DNA. No translation available.
    BC021207 mRNA. Translation: AAH21207.1.
    BC094832 mRNA. Translation: AAH94832.1.
    AL831857 mRNA. Translation: CAH56263.1.
    CCDSiCCDS1985.1. [Q96SQ7-1]
    RefSeqiNP_116216.2. NM_032827.6. [Q96SQ7-1]
    UniGeneiHs.135569.

    Genome annotation databases

    EnsembliENST00000306279; ENSP00000304676; ENSG00000168874. [Q96SQ7-1]
    GeneIDi84913.
    KEGGihsa:84913.
    UCSCiuc002sqm.4. human. [Q96SQ7-2]
    uc002sqn.3. human. [Q96SQ7-1]

    Polymorphism databases

    DMDMi224471820.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529205 mRNA. Translation: AAO85773.1 .
    AK027614 mRNA. Translation: BAB55233.1 .
    AK074681 mRNA. Translation: BAC11135.1 .
    AC012454 Genomic DNA. No translation available.
    BC021207 mRNA. Translation: AAH21207.1 .
    BC094832 mRNA. Translation: AAH94832.1 .
    AL831857 mRNA. Translation: CAH56263.1 .
    CCDSi CCDS1985.1. [Q96SQ7-1 ]
    RefSeqi NP_116216.2. NM_032827.6. [Q96SQ7-1 ]
    UniGenei Hs.135569.

    3D structure databases

    ProteinModelPortali Q96SQ7.
    SMRi Q96SQ7. Positions 231-285.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124350. 2 interactions.
    IntActi Q96SQ7. 1 interaction.
    STRINGi 9606.ENSP00000304676.

    Polymorphism databases

    DMDMi 224471820.

    Proteomic databases

    PaxDbi Q96SQ7.
    PRIDEi Q96SQ7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306279 ; ENSP00000304676 ; ENSG00000168874 . [Q96SQ7-1 ]
    GeneIDi 84913.
    KEGGi hsa:84913.
    UCSCi uc002sqm.4. human. [Q96SQ7-2 ]
    uc002sqn.3. human. [Q96SQ7-1 ]

    Organism-specific databases

    CTDi 84913.
    GeneCardsi GC02P085978.
    HGNCi HGNC:24126. ATOH8.
    neXtProti NX_Q96SQ7.
    PharmGKBi PA134904746.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG311369.
    HOGENOMi HOG000034181.
    HOVERGENi HBG095605.
    KOi K09084.
    OMAi ETQPFRE.
    OrthoDBi EOG73NG5F.
    PhylomeDBi Q96SQ7.
    TreeFami TF324848.

    Miscellaneous databases

    GenomeRNAii 84913.
    NextBioi 75304.
    PROi Q96SQ7.

    Gene expression databases

    Bgeei Q96SQ7.
    CleanExi HS_ATOH8.
    Genevestigatori Q96SQ7.

    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. "Gene expression profile of human endothelial cells exposed to sustained fluid shear stress."
      Wasserman S.M., Mehraban F., Komuves L.G., Yang R.B., Tomlinson J.E., Zhang Y., Spriggs F., Topper J.N.
      Physiol. Genomics 12:13-23(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-150, TISSUE SPECIFICITY.
      Tissue: Umbilical vein.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-150.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1), VARIANT PRO-150.
      Tissue: Muscle and Retinal pigment epithelium.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-321 (ISOFORM 2).
      Tissue: Amygdala.

    Entry informationi

    Entry nameiATOH8_HUMAN
    AccessioniPrimary (citable) accession number: Q96SQ7
    Secondary accession number(s): Q504S2, Q659B0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: March 3, 2009
    Last modified: October 1, 2014
    This is version 106 of the entry and version 2 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3