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Q9NQ87

- HEYL_HUMAN

UniProt

Q9NQ87 - HEYL_HUMAN

Protein

Hairy/enhancer-of-split related with YRPW motif-like protein

Gene

HEYL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (01 May 2007)
      Previous versions | rss
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    Functioni

    Downstream effector of Notch signaling which may be required for cardiovascular development By similarity. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' By similarity. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.By similarity1 Publication

    GO - Molecular functioni

    1. AF-1 domain binding Source: UniProtKB
    2. microsatellite binding Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. protein binding transcription factor activity Source: UniProtKB
    5. protein heterodimerization activity Source: UniProtKB
    6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    7. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
    8. RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity Source: UniProtKB
    9. RNA polymerase II transcription corepressor activity Source: Ensembl
    10. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    11. transcription corepressor activity Source: UniProtKB
    12. transcription factor binding Source: UniProtKB

    GO - Biological processi

    1. atrioventricular valve morphogenesis Source: BHF-UCL
    2. cardiac epithelial to mesenchymal transition Source: BHF-UCL
    3. cardiac ventricle morphogenesis Source: BHF-UCL
    4. cellular response to BMP stimulus Source: Ensembl
    5. endocardial cushion morphogenesis Source: BHF-UCL
    6. epithelial to mesenchymal transition involved in endocardial cushion formation Source: UniProtKB
    7. glomerulus development Source: Ensembl
    8. mesenchymal cell development Source: BHF-UCL
    9. negative regulation of androgen receptor activity Source: UniProtKB
    10. negative regulation of androgen receptor signaling pathway Source: UniProtKB
    11. negative regulation of transcription, DNA-templated Source: UniProtKB
    12. Notch signaling pathway Source: UniProtKB
    13. outflow tract morphogenesis Source: BHF-UCL
    14. positive regulation of neuron differentiation Source: UniProtKB
    15. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    16. proximal tubule development Source: Ensembl
    17. pulmonary valve morphogenesis Source: BHF-UCL
    18. skeletal muscle cell differentiation Source: Ensembl
    19. transcription from RNA polymerase II promoter Source: GOC
    20. ventricular septum morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Notch signaling pathway, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
    REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
    REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hairy/enhancer-of-split related with YRPW motif-like protein
    Short name:
    hHeyL
    Alternative name(s):
    Class B basic helix-loop-helix protein 33
    Short name:
    bHLHb33
    Hairy-related transcription factor 3
    Short name:
    HRT-3
    Short name:
    hHRT3
    Gene namesi
    Name:HEYL
    Synonyms:BHLHB33, HRT3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4882. HEYL.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleoplasm Source: Reactome
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29260.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 328328Hairy/enhancer-of-split related with YRPW motif-like proteinPRO_0000286429Add
    BLAST

    Proteomic databases

    PaxDbiQ9NQ87.
    PRIDEiQ9NQ87.

    PTM databases

    PhosphoSiteiQ9NQ87.

    Expressioni

    Inductioni

    By activation of the Notch signaling pathway.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQ87.
    BgeeiQ9NQ87.
    CleanExiHS_HEYL.
    GenevestigatoriQ9NQ87.

    Organism-specific databases

    HPAiHPA001438.

    Interactioni

    Subunit structurei

    Self-associates. Interacts with GATA4, GATA6, HES1, HEY1 and HEY2. Interacts with HDAC1, NCOR1 and SIN3A.By similarity

    Protein-protein interaction databases

    BioGridi117714. 15 interactions.
    IntActiQ9NQ87. 13 interactions.
    MINTiMINT-1190764.
    STRINGi9606.ENSP00000361943.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ87.
    SMRiQ9NQ87. Positions 42-99, 105-159.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini43 – 9856bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini116 – 15338OrangePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni42 – 11170Transcriptional repression and interaction with NCOR1 and SIN3ABy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi162 – 309148Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the HEY family.Curated
    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 1 Orange domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG310123.
    HOGENOMiHOG000286035.
    HOVERGENiHBG003275.
    InParanoidiQ9NQ87.
    KOiK09091.
    OMAiHSWVSEI.
    OrthoDBiEOG76MK98.
    PhylomeDBiQ9NQ87.
    TreeFamiTF323617.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR003650. Orange.
    IPR018352. Orange_subgr.
    [Graphical view]
    PfamiPF07527. Hairy_orange. 1 hit.
    PF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    SM00511. ORANGE. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    PS51054. ORANGE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NQ87-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKRPKEPSGS DGESDGPIDV GQEGQLSQMA RPLSTPSSSQ MQARKKHRGI    50
    IEKRRRDRIN SSLSELRRLV PTAFEKQGSS KLEKAEVLQM TVDHLKMLHA 100
    TGGTGFFDAR ALAVDFRSIG FRECLTEVIR YLGVLEGPSS RADPVRIRLL 150
    SHLNSYAAEM EPSPTPTGPL AFPAWPWSFF HSCPGLPALS NQLAILGRVP 200
    SPVLPGVSSP AYPIPALRTA PLRRATGIIL PARRNVLPSR GASSTRRARP 250
    LERPATPVPV APSSRAARSS HIAPLLQSSS PTPPGPTGSA AYVAVPTPNS 300
    SSPGPAGRPA GAMLYHSWVS EITEIGAF 328
    Length:328
    Mass (Da):35,087
    Last modified:May 1, 2007 - v2
    Checksum:iC11A1EAB18611F43
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471H → R.2 Publications
    Corresponds to variant rs784625 [ dbSNP | Ensembl ].
    VAR_032112

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ272215 mRNA. Translation: CAB75716.1.
    AF311885 mRNA. Translation: AAG31158.1.
    AL035404 Genomic DNA. Translation: CAI19572.1.
    BC006087 mRNA. Translation: AAH06087.1.
    CCDSiCCDS439.1.
    RefSeqiNP_055386.1. NM_014571.3.
    UniGeneiHs.472566.

    Genome annotation databases

    EnsembliENST00000372852; ENSP00000361943; ENSG00000163909.
    GeneIDi26508.
    KEGGihsa:26508.
    UCSCiuc001cdp.3. human.

    Polymorphism databases

    DMDMi146286205.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ272215 mRNA. Translation: CAB75716.1 .
    AF311885 mRNA. Translation: AAG31158.1 .
    AL035404 Genomic DNA. Translation: CAI19572.1 .
    BC006087 mRNA. Translation: AAH06087.1 .
    CCDSi CCDS439.1.
    RefSeqi NP_055386.1. NM_014571.3.
    UniGenei Hs.472566.

    3D structure databases

    ProteinModelPortali Q9NQ87.
    SMRi Q9NQ87. Positions 42-99, 105-159.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117714. 15 interactions.
    IntActi Q9NQ87. 13 interactions.
    MINTi MINT-1190764.
    STRINGi 9606.ENSP00000361943.

    PTM databases

    PhosphoSitei Q9NQ87.

    Polymorphism databases

    DMDMi 146286205.

    Proteomic databases

    PaxDbi Q9NQ87.
    PRIDEi Q9NQ87.

    Protocols and materials databases

    DNASUi 26508.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372852 ; ENSP00000361943 ; ENSG00000163909 .
    GeneIDi 26508.
    KEGGi hsa:26508.
    UCSCi uc001cdp.3. human.

    Organism-specific databases

    CTDi 26508.
    GeneCardsi GC01M040119.
    HGNCi HGNC:4882. HEYL.
    HPAi HPA001438.
    MIMi 609034. gene.
    neXtProti NX_Q9NQ87.
    PharmGKBi PA29260.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310123.
    HOGENOMi HOG000286035.
    HOVERGENi HBG003275.
    InParanoidi Q9NQ87.
    KOi K09091.
    OMAi HSWVSEI.
    OrthoDBi EOG76MK98.
    PhylomeDBi Q9NQ87.
    TreeFami TF323617.

    Enzyme and pathway databases

    Reactomei REACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
    REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
    REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.

    Miscellaneous databases

    ChiTaRSi HEYL. human.
    GeneWikii HEYL.
    GenomeRNAii 26508.
    NextBioi 48798.
    PROi Q9NQ87.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQ87.
    Bgeei Q9NQ87.
    CleanExi HS_HEYL.
    Genevestigatori Q9NQ87.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR003650. Orange.
    IPR018352. Orange_subgr.
    [Graphical view ]
    Pfami PF07527. Hairy_orange. 1 hit.
    PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    SM00511. ORANGE. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    PS51054. ORANGE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family."
      Steidl C., Leimeister C., Klamt B., Maier M., Nanda I., Dixon M., Clarke R., Schmid M., Gessler M.
      Genomics 66:195-203(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-47.
    2. "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling."
      Nakagawa O., McFadden D.G., Nakagawa M., Yanagisawa H., Hu T., Srivastava D., Olson E.N.
      Proc. Natl. Acad. Sci. U.S.A. 97:13655-13660(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-47.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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].
      Tissue: Muscle.
    5. "Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes."
      Maier M.M., Gessler M.
      Biochem. Biophys. Res. Commun. 275:652-660(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    6. "Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism."
      Kathiriya I.S., King I.N., Murakami M., Nakagawa M., Astle J.M., Gardner K.A., Gerard R.D., Olson E.N., Srivastava D., Nakagawa O.
      J. Biol. Chem. 279:54937-54943(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiHEYL_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ87
    Secondary accession number(s): Q5TG99
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 2007
    Last sequence update: May 1, 2007
    Last modified: October 1, 2014
    This is version 111 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 1
      Human chromosome 1: 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