HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HEY1
hes related family bHLH transcription factor with YRPW motif 1
Chromosome 8 · 8q21.13
NCBI Gene: 23462Ensembl: ENSG00000164683.19HGNC: HGNC:4880UniProt: B4DEI9
89PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificcis-regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificnegative regulation of smooth muscle cell differentiationmesenchymal chondrosarcomadedifferentiated chondrosarcomaprimary central chondrosarcomaneurodegenerative disease
✦AI Summary

HEY1 is a basic helix-loop-helix transcriptional repressor that functions as a key downstream effector of Notch signaling. It binds preferentially to canonical E-box sequences (5'-CACGTG-3') 1 and represses transcription by inhibiting cardiac activators GATA4/GATA6 and neuronal factors ASCL1/NEUROD4 2. In developmental contexts, HEY1 is essential for cardiovascular development, specifically regulating endocardial epithelial-to-mesenchymal transition required for cardiac valve and septum formation 3. The protein also maintains neuronal precursor cell fate and promotes angiogenesis regulation through reversible SUMOylation, where TRIM28-mediated SUMOylation facilitates HEY1 homodimer formation and DNA-binding capability to suppress angiogenic genes, while deSUMOylation permits heterodimerization with HES1, reducing transcriptional activity 4. In pathological contexts, HEY1 contributes to cancer stem cell maintenance through NOTCH1-HEY1 signaling activation in breast cancer 5 and participates in glioblastoma radioresistance via the circATIC/miR-520d-5p/Notch2-Hey1 axis 6. Additionally, HEY1-NCOA2 fusion genes characterize mesenchymal chondrosarcoma, correlating with elevated COL2A1 and Bcl2 expression 7. These findings establish HEY1 as a critical transcriptional regulator with diverse roles spanning developmental processes and oncogenic pathways.

Sources cited
1
HEY1 binds preferentially to canonical E-box sequence 5'-CACGTG-3'
PMID: 11095750
2
HEY1 represses transcription by cardiac activators GATA4/GATA6 and neuronal factors ASCL1/NEUROD4
PMID: 15485867
3
HEY1 is essential for cardiovascular development and endocardial epithelial-to-mesenchymal transition in heart valve formation
PMID: 38357822
4
TRIM28-mediated SUMOylation of HEY1 facilitates homodimer formation and DNA-binding to suppress angiogenic genes; deSUMOylation permits HES1 heterodimerization reducing activity
PMID: 38166414
5
NOTCH1-HEY1 signaling pathway promotes breast cancer stem cell maintenance and chemoresistance
PMID: 38437016
6
HEY1 participates in glioblastoma radioresistance through circATIC/miR-520d-5p/Notch2-Hey1 signaling axis
PMID: 39501373
7
HEY1-NCOA2 fusion gene characterizes mesenchymal chondrosarcoma with elevated COL2A1 and Bcl2 expression
PMID: 40301759
Disease Associationsⓘ20
mesenchymal chondrosarcomaOpen Targets
0.38Weak
dedifferentiated chondrosarcomaOpen Targets
0.37Weak
primary central chondrosarcomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
osteosarcomaOpen Targets
0.30Weak
head and neck squamous cell carcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.29Weak
esophageal squamous cell carcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
breast carcinomaOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
lymphoid neoplasmOpen Targets
0.28Weak
brain glioblastomaOpen Targets
0.28Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.28Weak
esophageal carcinomaOpen Targets
0.28Weak
lung carcinomaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STAT1Protein interaction100%SKP1Protein interaction99%CUL1Protein interaction99%CUL2Protein interaction98%CUL3Protein interaction97%DLL1Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Heart
90%
Lung
55%
Bone Marrow
12%
Liver
11%
Ovary
8%
Gene Interaction Network
Click a node to explore
HEY1STAT1SKP1CUL1CUL2CUL3DLL1
PROTEIN STRUCTURE
Preparing viewer…
PDB2DB7 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.69Intermediate
Observed/Expected LoF0.36 [0.21–0.62]
RankingsWhere HEY1 stands among ~20K protein-coding genes
  • #5,361of 20,598
    Most Researched89
  • #4,383of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedHEY1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of Angiogenesis.
PMID: 38166414
Circ Res · 2024
1.00
2
Microbiota enterotoxigenic Bacteroides fragilis-secreted BFT-1 promotes breast cancer cell stemness and chemoresistance through its functional receptor NOD1.
PMID: 38437016
Protein Cell · 2024
0.90
3
Breast cancer remodels lymphatics in sentinel lymph nodes.
PMID: 41249124
Nat Commun · 2025
0.80
4
Directed Differentiation of Human Induced Pluripotent Stem Cells to Heart Valve Cells.
PMID: 38357822
Circulation · 2024
0.70
5
Malignant Cartilage-Forming Tumors.
PMID: 34742483
Surg Pathol Clin · 2021
0.60