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Protein

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

Gene

HEYL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
SIGNORiQ9NQ87

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163909.7
HGNCiHGNC:4882 HEYL
MIMi609034 gene
neXtProtiNX_Q9NQ87

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26508
OpenTargetsiENSG00000163909
PharmGKBiPA29260

Polymorphism and mutation databases

BioMutaiHEYL
DMDMi146286205

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002864291 – 328Hairy/enhancer-of-split related with YRPW motif-like proteinAdd BLAST328

Proteomic databases

PaxDbiQ9NQ87
PeptideAtlasiQ9NQ87
PRIDEiQ9NQ87
ProteomicsDBi82105

PTM databases

iPTMnetiQ9NQ87
PhosphoSitePlusiQ9NQ87

Expressioni

Inductioni

By activation of the Notch signaling pathway.1 Publication

Gene expression databases

BgeeiENSG00000163909
CleanExiHS_HEYL
GenevisibleiQ9NQ87 HS

Organism-specific databases

HPAiHPA001438
HPA076960

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • AF-1 domain binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: Ensembl
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117714, 20 interactors
IntActiQ9NQ87, 19 interactors
MINTiQ9NQ87
STRINGi9606.ENSP00000361943

Structurei

3D structure databases

ProteinModelPortaliQ9NQ87
SMRiQ9NQ87
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 98bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini116 – 153OrangePROSITE-ProRule annotationAdd BLAST38

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni42 – 111Transcriptional repression and interaction with NCOR1 and SIN3ABy similarityAdd BLAST70

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi162 – 309Pro-richAdd BLAST148

Sequence similaritiesi

Belongs to the HEY family.Curated

Phylogenomic databases

eggNOGiKOG4304 Eukaryota
ENOG4111F0X LUCA
GeneTreeiENSGT00700000104130
HOGENOMiHOG000286035
HOVERGENiHBG003275
InParanoidiQ9NQ87
KOiK09091
OMAiHSWVSEI
OrthoDBiEOG091G0GBN
PhylomeDBiQ9NQ87
TreeFamiTF323617

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003650 Orange_dom
PfamiView protein in Pfam
PF07527 Hairy_orange, 1 hit
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00511 ORANGE, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS51054 ORANGE, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NQ87-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKRPKEPSGS DGESDGPIDV GQEGQLSQMA RPLSTPSSSQ MQARKKHRGI
60 70 80 90 100
IEKRRRDRIN SSLSELRRLV PTAFEKQGSS KLEKAEVLQM TVDHLKMLHA
110 120 130 140 150
TGGTGFFDAR ALAVDFRSIG FRECLTEVIR YLGVLEGPSS RADPVRIRLL
160 170 180 190 200
SHLNSYAAEM EPSPTPTGPL AFPAWPWSFF HSCPGLPALS NQLAILGRVP
210 220 230 240 250
SPVLPGVSSP AYPIPALRTA PLRRATGIIL PARRNVLPSR GASSTRRARP
260 270 280 290 300
LERPATPVPV APSSRAARSS HIAPLLQSSS PTPPGPTGSA AYVAVPTPNS
310 320
SSPGPAGRPA GAMLYHSWVS EITEIGAF
Length:328
Mass (Da):35,087
Last modified:May 1, 2007 - v2
Checksum:iC11A1EAB18611F43
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03211247H → R2 PublicationsCorresponds to variant dbSNP:rs784625Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ272215 mRNA Translation: CAB75716.1
AF311885 mRNA Translation: AAG31158.1
AL035404 Genomic DNA No translation available.
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHEYL_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ87
Secondary accession number(s): Q5TG99
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: July 18, 2018
This is version 145 of the entry and version 2 of the sequence. See 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

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