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Q9NQ87

- HEYL_HUMAN

UniProt

Q9NQ87 - HEYL_HUMAN

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Protein

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

Gene
HEYL, BHLHB33, HRT3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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 GATA6.1 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
Complete GO annotation...

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 By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleoplasm Source: Reactome
  3. nucleus Source: UniProtKB
Complete GO annotation...

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 By similarity. Interacts with GATA4, GATA6, HES1, HEY1 and HEY2 By similarity. 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 9856bHLHAdd
BLAST
Domaini116 – 15338OrangeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni42 – 11170Transcriptional repression and interaction with NCOR1 and SIN3A By similarityAdd
BLAST

Compositional bias

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

Sequence similaritiesi

Belongs to the HEY family.
Contains 1 Orange domain.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 110 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

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