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Protein

Hairy/enhancer-of-split related with YRPW motif protein 1

Gene

HEY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867). Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737).By similarity3 Publications

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-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
SIGNORiQ9Y5J3

Names & Taxonomyi

Protein namesi
Recommended name:
Hairy/enhancer-of-split related with YRPW motif protein 1
Alternative name(s):
Cardiovascular helix-loop-helix factor 2
Short name:
CHF-2
Class B basic helix-loop-helix protein 31
Short name:
bHLHb31
HES-related repressor protein 1
Hairy and enhancer of split-related protein 1
Short name:
HESR-1
Hairy-related transcription factor 1
Short name:
HRT-1
Short name:
hHRT1
Gene namesi
Name:HEY1
Synonyms:BHLHB31, CHF2, HERP2, HESR1, HRT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164683.16
HGNCiHGNC:4880 HEY1
MIMi602953 gene
neXtProtiNX_Q9Y5J3

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

DisGeNETi23462
OpenTargetsiENSG00000164683
PharmGKBiPA29258

Polymorphism and mutation databases

BioMutaiHEY1
DMDMi13124298

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272171 – 304Hairy/enhancer-of-split related with YRPW motif protein 1Add BLAST304

Proteomic databases

PaxDbiQ9Y5J3
PeptideAtlasiQ9Y5J3
PRIDEiQ9Y5J3
ProteomicsDBi86418
86419 [Q9Y5J3-2]

PTM databases

iPTMnetiQ9Y5J3
PhosphoSitePlusiQ9Y5J3

Expressioni

Tissue specificityi

Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.

Gene expression databases

BgeeiENSG00000164683
CleanExiHS_HEY1
ExpressionAtlasiQ9Y5J3 baseline and differential
GenevisibleiQ9Y5J3 HS

Organism-specific databases

HPAiHPA055599
HPA063472

Interactioni

Subunit structurei

Self-associates. Interacts with HES1 and HEYL. Interacts with HDAC1, NCOR1 and SIN3A. Interacts with GATA4 and GATA6. Interacts with CCDC89/BOIP.By similarity

GO - Molecular functioni

  • protein dimerization activity Source: InterPro
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117025, 112 interactors
ELMiQ9Y5J3
IntActiQ9Y5J3, 13 interactors
MINTiQ9Y5J3
STRINGi9606.ENSP00000338272

Structurei

Secondary structure

1304
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi115 – 120Combined sources6
Helixi122 – 140Combined sources19
Helixi149 – 164Combined sources16

3D structure databases

ProteinModelPortaliQ9Y5J3
SMRiQ9Y5J3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y5J3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 104bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini122 – 158OrangePROSITE-ProRule annotationAdd BLAST37

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni48 – 117Transcriptional repression and interaction with NCOR1 and SIN3ABy similarityAdd BLAST70

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi294 – 297YRPW motif4

Sequence similaritiesi

Belongs to the HEY family.Curated

Phylogenomic databases

eggNOGiKOG4304 Eukaryota
ENOG4111F0X LUCA
GeneTreeiENSGT00700000104130
HOGENOMiHOG000286035
HOVERGENiHBG003275
InParanoidiQ9Y5J3
KOiK09091
OMAiHPHVAHP
OrthoDBiEOG091G0HWC
PhylomeDBiQ9Y5J3
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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5J3-1) [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

        10         20         30         40         50
MKRAHPEYSS SDSELDETIE VEKESADENG NLSSALGSMS PTTSSQILAR
60 70 80 90 100
KRRRGIIEKR RRDRINNSLS ELRRLVPSAF EKQGSAKLEK AEILQMTVDH
110 120 130 140 150
LKMLHTAGGK GYFDAHALAM DYRSLGFREC LAEVARYLSI IEGLDASDPL
160 170 180 190 200
RVRLVSHLNN YASQREAASG AHAGLGHIPW GTVFGHHPHI AHPLLLPQNG
210 220 230 240 250
HGNAGTTASP TEPHHQGRLG SAHPEAPALR APPSGSLGPV LPVVTSASKL
260 270 280 290 300
SPPLLSSVAS LSAFPFSFGS FHLLSPNALS PSAPTQAANL GKPYRPWGTE

IGAF
Length:304
Mass (Da):32,613
Last modified:November 1, 1999 - v1
Checksum:iF130991A99E9CA54
GO
Isoform 2 (identifier: Q9Y5J3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: K → KQVME

Show »
Length:308
Mass (Da):33,100
Checksum:i99A47C7EE29AC7B8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237L → F in AAF37297 (Ref. 5) Curated1
Sequence conflicti237L → P in BAC03890 (PubMed:14702039).Curated1
Sequence conflicti252P → L in AAF37297 (Ref. 5) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04099782K → KQVME in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151522 mRNA Translation: AAD38967.1
AF176422 mRNA Translation: AAD51749.1
AJ272214 mRNA Translation: CAB75715.1
AF232239 mRNA Translation: AAF37297.1
AF311883 mRNA Translation: AAG31156.1
BT020065 mRNA Translation: AAV38868.1
AK092437 mRNA Translation: BAC03890.1
AK313271 mRNA Translation: BAG36080.1
AC016240 Genomic DNA No translation available.
CH471068 Genomic DNA Translation: EAW87066.1
BC001873 mRNA Translation: AAH01873.1
CCDSiCCDS43749.1 [Q9Y5J3-2]
CCDS6225.1 [Q9Y5J3-1]
RefSeqiNP_001035798.1, NM_001040708.1 [Q9Y5J3-2]
NP_001269780.1, NM_001282851.1
NP_036390.3, NM_012258.3 [Q9Y5J3-1]
UniGeneiHs.234434

Genome annotation databases

EnsembliENST00000337919; ENSP00000338272; ENSG00000164683 [Q9Y5J3-2]
ENST00000354724; ENSP00000346761; ENSG00000164683 [Q9Y5J3-1]
GeneIDi23462
KEGGihsa:23462
UCSCiuc003ybl.4 human [Q9Y5J3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiHEY1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5J3
Secondary accession number(s): B2R883
, Q5TZS3, Q8NAM2, Q9NYP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 175 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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