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Q9NQ87 (HEYL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HEYL
Synonyms:BHLHB33, HRT3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length328 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.6

Subunit structure

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

Subcellular location

Nucleus By similarity.

Induction

By activation of the Notch signaling pathway. Ref.5

Sequence similarities

Belongs to the HEY family.

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 Orange domain.

Ontologies

Keywords
   Biological processNotch signaling pathway
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionDevelopmental protein
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processNotch signaling pathway

Inferred from direct assay Ref.5. Source: UniProtKB

atrioventricular valve morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac epithelial to mesenchymal transition

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac ventricle morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cellular response to BMP stimulus

Inferred from electronic annotation. Source: Ensembl

endocardial cushion morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

epithelial to mesenchymal transition involved in endocardial cushion formation

Inferred from sequence or structural similarity. Source: UniProtKB

glomerulus development

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell development

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of androgen receptor activity

Inferred from direct assay PubMed 21454491. Source: UniProtKB

negative regulation of androgen receptor signaling pathway

Inferred from direct assay PubMed 21454491. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.6PubMed 21454491. Source: UniProtKB

outflow tract morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of neuron differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21290414. Source: UniProtKB

proximal tubule development

Inferred from electronic annotation. Source: Ensembl

pulmonary valve morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: GOC

ventricular septum morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 21454491. Source: UniProtKB

   Molecular_functionAF-1 domain binding

Inferred from physical interaction PubMed 21454491. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II core promoter sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

RNA polymerase II transcription corepressor activity

Inferred from electronic annotation. Source: Ensembl

microsatellite binding

Inferred from direct assay PubMed 21290414. Source: UniProtKB

protein binding

Inferred from physical interaction Ref.6PubMed 21454491. Source: UniProtKB

protein binding transcription factor activity

Inferred from direct assay PubMed 21290414. Source: UniProtKB

protein heterodimerization activity

Inferred from direct assay PubMed 21454491. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from direct assay Ref.6. Source: UniProtKB

transcription corepressor activity

Inferred from direct assay PubMed 21454491. Source: UniProtKB

transcription factor binding

Non-traceable author statement PubMed 17611704. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 328328Hairy/enhancer-of-split related with YRPW motif-like protein
PRO_0000286429

Regions

Domain43 – 9856bHLH
Domain116 – 15338Orange
Region42 – 11170Transcriptional repression and interaction with NCOR1 and SIN3A By similarity
Compositional bias162 – 309148Pro-rich

Natural variations

Natural variant471H → R. Ref.1 Ref.2
Corresponds to variant rs784625 [ dbSNP | Ensembl ].
VAR_032112

Sequences

Sequence LengthMass (Da)Tools
Q9NQ87 [UniParc].

Last modified May 1, 2007. Version 2.
Checksum: C11A1EAB18611F43

FASTA32835,087
        10         20         30         40         50         60 
MKRPKEPSGS DGESDGPIDV GQEGQLSQMA RPLSTPSSSQ MQARKKHRGI IEKRRRDRIN 

        70         80         90        100        110        120 
SSLSELRRLV PTAFEKQGSS KLEKAEVLQM TVDHLKMLHA TGGTGFFDAR ALAVDFRSIG 

       130        140        150        160        170        180 
FRECLTEVIR YLGVLEGPSS RADPVRIRLL SHLNSYAAEM EPSPTPTGPL AFPAWPWSFF 

       190        200        210        220        230        240 
HSCPGLPALS NQLAILGRVP SPVLPGVSSP AYPIPALRTA PLRRATGIIL PARRNVLPSR 

       250        260        270        280        290        300 
GASSTRRARP LERPATPVPV APSSRAARSS HIAPLLQSSS PTPPGPTGSA AYVAVPTPNS 

       310        320 
SSPGPAGRPA GAMLYHSWVS EITEIGAF 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ272215 mRNA. Translation: CAB75716.1.
AF311885 mRNA. Translation: AAG31158.1.
AL035404 Genomic DNA. Translation: CAI19572.1.
BC006087 mRNA. Translation: AAH06087.1.
CCDSCCDS439.1.
RefSeqNP_055386.1. NM_014571.3.
UniGeneHs.472566.

3D structure databases

ProteinModelPortalQ9NQ87.
SMRQ9NQ87. Positions 42-99, 105-159.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117714. 15 interactions.
IntActQ9NQ87. 13 interactions.
MINTMINT-1190764.
STRING9606.ENSP00000361943.

PTM databases

PhosphoSiteQ9NQ87.

Polymorphism databases

DMDM146286205.

Proteomic databases

PaxDbQ9NQ87.
PRIDEQ9NQ87.

Protocols and materials databases

DNASU26508.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372852; ENSP00000361943; ENSG00000163909.
GeneID26508.
KEGGhsa:26508.
UCSCuc001cdp.3. human.

Organism-specific databases

CTD26508.
GeneCardsGC01M040119.
HGNCHGNC:4882. HEYL.
HPAHPA001438.
MIM609034. gene.
neXtProtNX_Q9NQ87.
PharmGKBPA29260.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310123.
HOGENOMHOG000286035.
HOVERGENHBG003275.
InParanoidQ9NQ87.
KOK09091.
OMAHSWVSEI.
OrthoDBEOG76MK98.
PhylomeDBQ9NQ87.
TreeFamTF323617.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9NQ87.
BgeeQ9NQ87.
CleanExHS_HEYL.
GenevestigatorQ9NQ87.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view]
PfamPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHEYL. human.
GeneWikiHEYL.
GenomeRNAi26508.
NextBio48798.
PROQ9NQ87.
SOURCESearch...

Entry information

Entry nameHEYL_HUMAN
AccessionPrimary (citable) accession number: Q9NQ87
Secondary accession number(s): Q5TG99
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: July 9, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM