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Q9BYE0

- HES7_HUMAN

UniProt

Q9BYE0 - HES7_HUMAN

Protein

Transcription factor HES-7

Gene

HES7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. transcription factor binding Source: UniProtKB

    GO - Biological processi

    1. mesoderm development Source: UniProtKB
    2. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    3. Notch signaling pathway Source: Ensembl
    4. post-anal tail morphogenesis Source: Ensembl
    5. regulation of somitogenesis Source: Ensembl
    6. rhythmic process Source: Ensembl
    7. skeletal system development Source: Ensembl
    8. somitogenesis Source: Ensembl
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor HES-7
    Short name:
    hHes7
    Alternative name(s):
    Class B basic helix-loop-helix protein 37
    Short name:
    bHLHb37
    Hairy and enhancer of split 7
    bHLH factor Hes7
    Gene namesi
    Name:HES7
    Synonyms:BHLHB37
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:15977. HES7.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251R → W in SCDO4. 1 Publication
    VAR_064921
    Natural varianti58 – 581I → V in SCDO4. 1 Publication
    VAR_064922
    Natural varianti186 – 1861D → Y in SCDO4. 1 Publication
    VAR_064923

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi613686. phenotype.
    Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBiPA29254.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 225225Transcription factor HES-7PRO_0000252422Add
    BLAST

    Proteomic databases

    PaxDbiQ9BYE0.
    PRIDEiQ9BYE0.

    PTM databases

    PhosphoSiteiQ9BYE0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BYE0.
    BgeeiQ9BYE0.
    CleanExiHS_HES7.
    GenevestigatoriQ9BYE0.

    Interactioni

    Subunit structurei

    Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.By similarity

    Protein-protein interaction databases

    BioGridi124187. 1 interaction.
    STRINGi9606.ENSP00000314774.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYE0.
    SMRiQ9BYE0. Positions 14-73.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini12 – 6958bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini92 – 12231OrangePROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi221 – 2244WRPW motif

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi128 – 22598Pro-richAdd
    BLAST

    Domaini

    Has a particular type of basic domain which includes a helix-interrupting proline.
    The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.By similarity

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG293472.
    HOGENOMiHOG000236346.
    HOVERGENiHBG096052.
    InParanoidiQ9BYE0.
    KOiK09087.
    OMAiAFWRPWP.
    PhylomeDBiQ9BYE0.
    TreeFamiTF351373.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR003650. Orange.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    PS51054. ORANGE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BYE0-1) [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

    MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN    50
    PKLEKAEILE FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL 100
    LRLAAFAHDA SPAARAQLFS ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA 150
    APALGPALHQ RPPVHQGHPS PRCAWSPSLC SPRAGDSGAP APLTGLLPPP 200
    PPPHRQDGAP KAPLPPPPAF WRPWP 225
    Length:225
    Mass (Da):24,899
    Last modified:May 18, 2010 - v2
    Checksum:iBDD4EB0D020E2EE9
    GO
    Isoform 2 (identifier: Q9BYE0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         74-74: P → PPAAAA

    Show »
    Length:230
    Mass (Da):25,280
    Checksum:i11DE937ACD4F5FCD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti86 – 861E → K in BAB39525. (PubMed:11260262)Curated
    Sequence conflicti106 – 1061F → I in BAB39525. (PubMed:11260262)Curated
    Sequence conflicti113 – 1131A → T in BAB39525. (PubMed:11260262)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251R → W in SCDO4. 1 Publication
    VAR_064921
    Natural varianti58 – 581I → V in SCDO4. 1 Publication
    VAR_064922
    Natural varianti186 – 1861D → Y in SCDO4. 1 Publication
    VAR_064923

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei74 – 741P → PPAAAA in isoform 2. CuratedVSP_047334

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB049064 mRNA. Translation: BAB39525.1.
    AC129492 Genomic DNA. No translation available.
    BC039887 mRNA. No translation available.
    CCDSiCCDS42258.1. [Q9BYE0-1]
    CCDS54085.1. [Q9BYE0-2]
    RefSeqiNP_001159439.1. NM_001165967.1. [Q9BYE0-2]
    NP_115969.2. NM_032580.3. [Q9BYE0-1]
    UniGeneiHs.434828.

    Genome annotation databases

    EnsembliENST00000317814; ENSP00000314774; ENSG00000179111. [Q9BYE0-1]
    ENST00000541682; ENSP00000446205; ENSG00000179111. [Q9BYE0-2]
    GeneIDi84667.
    KEGGihsa:84667.
    UCSCiuc002gkc.3. human. [Q9BYE0-1]

    Polymorphism databases

    DMDMi296434525.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB049064 mRNA. Translation: BAB39525.1 .
    AC129492 Genomic DNA. No translation available.
    BC039887 mRNA. No translation available.
    CCDSi CCDS42258.1. [Q9BYE0-1 ]
    CCDS54085.1. [Q9BYE0-2 ]
    RefSeqi NP_001159439.1. NM_001165967.1. [Q9BYE0-2 ]
    NP_115969.2. NM_032580.3. [Q9BYE0-1 ]
    UniGenei Hs.434828.

    3D structure databases

    ProteinModelPortali Q9BYE0.
    SMRi Q9BYE0. Positions 14-73.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124187. 1 interaction.
    STRINGi 9606.ENSP00000314774.

    PTM databases

    PhosphoSitei Q9BYE0.

    Polymorphism databases

    DMDMi 296434525.

    Proteomic databases

    PaxDbi Q9BYE0.
    PRIDEi Q9BYE0.

    Protocols and materials databases

    DNASUi 84667.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317814 ; ENSP00000314774 ; ENSG00000179111 . [Q9BYE0-1 ]
    ENST00000541682 ; ENSP00000446205 ; ENSG00000179111 . [Q9BYE0-2 ]
    GeneIDi 84667.
    KEGGi hsa:84667.
    UCSCi uc002gkc.3. human. [Q9BYE0-1 ]

    Organism-specific databases

    CTDi 84667.
    GeneCardsi GC17M008060.
    GeneReviewsi HES7.
    H-InvDB HIX0202522.
    HGNCi HGNC:15977. HES7.
    MIMi 608059. gene.
    613686. phenotype.
    neXtProti NX_Q9BYE0.
    Orphaneti 2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBi PA29254.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293472.
    HOGENOMi HOG000236346.
    HOVERGENi HBG096052.
    InParanoidi Q9BYE0.
    KOi K09087.
    OMAi AFWRPWP.
    PhylomeDBi Q9BYE0.
    TreeFami TF351373.

    Miscellaneous databases

    GenomeRNAii 84667.
    NextBioi 74661.
    PROi Q9BYE0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BYE0.
    Bgeei Q9BYE0.
    CleanExi HS_HES7.
    Genevestigatori Q9BYE0.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR003650. Orange.
    [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.
    PS51054. ORANGE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm."
      Bessho Y., Miyoshi G., Sakata R., Kageyama R.
      Genes Cells 6:175-185(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis."
      Sparrow D.B., Guillen-Navarro E., Fatkin D., Dunwoodie S.L.
      Hum. Mol. Genet. 17:3761-3766(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCDO4 TRP-25.
    5. "Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis."
      Sparrow D.B., Sillence D., Wouters M.A., Turnpenny P.D., Dunwoodie S.L.
      Eur. J. Hum. Genet. 18:674-679(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCDO4 VAL-58 AND TYR-186.

    Entry informationi

    Entry nameiHES7_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYE0
    Secondary accession number(s): F8VPC9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 101 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 17
      Human chromosome 17: 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