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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: Annotation score: 5 out of 5-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

  • microsatellite binding Source: UniProtKB
  • transcription factor activity, protein binding Source: UniProtKB
  • transcription factor activity, RNA polymerase II core promoter sequence-specific Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

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

BioCyciZFISH:ENSG00000164683-MONOMER.
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.
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

HGNCiHGNC:4880. HEY1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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.

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.

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

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117025. 17 interactors.
IntActiQ9Y5J3. 7 interactors.
MINTiMINT-1179634.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB7X-ray1.90A/B111-167[»]
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
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4304. Eukaryota.
ENOG4111F0X. LUCA.
GeneTreeiENSGT00700000104130.
HOGENOMiHOG000286035.
HOVERGENiHBG003275.
InParanoidiQ9Y5J3.
KOiK09091.
OMAiIPWGTAF.
OrthoDBiEOG091G0HWC.
PhylomeDBiQ9Y5J3.
TreeFamiTF323617.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[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]

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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB7X-ray1.90A/B111-167[»]
ProteinModelPortaliQ9Y5J3.
SMRiQ9Y5J3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117025. 17 interactors.
IntActiQ9Y5J3. 7 interactors.
MINTiMINT-1179634.
STRINGi9606.ENSP00000338272.

PTM databases

iPTMnetiQ9Y5J3.
PhosphoSitePlusiQ9Y5J3.

Polymorphism and mutation databases

BioMutaiHEY1.
DMDMi13124298.

Proteomic databases

PaxDbiQ9Y5J3.
PeptideAtlasiQ9Y5J3.
PRIDEiQ9Y5J3.

Protocols and materials databases

DNASUi23462.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23462.
DisGeNETi23462.
GeneCardsiHEY1.
HGNCiHGNC:4880. HEY1.
HPAiHPA055599.
MIMi602953. gene.
neXtProtiNX_Q9Y5J3.
OpenTargetsiENSG00000164683.
PharmGKBiPA29258.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4304. Eukaryota.
ENOG4111F0X. LUCA.
GeneTreeiENSGT00700000104130.
HOGENOMiHOG000286035.
HOVERGENiHBG003275.
InParanoidiQ9Y5J3.
KOiK09091.
OMAiIPWGTAF.
OrthoDBiEOG091G0HWC.
PhylomeDBiQ9Y5J3.
TreeFamiTF323617.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164683-MONOMER.
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.
SIGNORiQ9Y5J3.

Miscellaneous databases

ChiTaRSiHEY1. human.
EvolutionaryTraceiQ9Y5J3.
GeneWikiiHEY1.
GenomeRNAii23462.
PROiQ9Y5J3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164683.
CleanExiHS_HEY1.
ExpressionAtlasiQ9Y5J3. baseline and differential.
GenevisibleiQ9Y5J3. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange_dom.
[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]
ProtoNetiSearch...

Entry informationi

Entry nameiHEY1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5J3
Secondary accession number(s): B2R883
, Q5TZS3, Q8NAM2, Q9NYP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 160 of the entry and version 1 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.