HEY1 Gene - Hairy/E(spl)-Related with YRPW Motif 1
Transcriptional repressor in Notch signaling and development
Gene Information Card
| Symbol | HEY1 |
|---|---|
| Full Name | Hairy/E(spl)-Related with YRPW Motif 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 23462 ncbi.nlm.nih.gov/gene/23462 |
| Ensembl ID | ENSG00000164683 |
| UniProt ID | Q9Y5J3 |
| OMIM ID | 602953 |
| HGNC ID | 4880 |
| Aliases | HRT1, HESR1, CHF2, HERP2, bHLHb31, Hey1 |
Description
HEY1 encodes a basic helix-loop-helix (bHLH) transcriptional repressor that functions downstream of Notch signaling. It regulates cell fate determination, cardiovascular development, and neurogenesis by binding to N-box (CACNAG) or E-box (CANNTG) DNA sequences. HEY1 is widely expressed in developing somites, heart, and brain, and its dysregulation is implicated in congenital heart defects and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (e.g., tetralogy of Fallot) | Altered Notch-HEY1 signaling disrupts cardiac outflow tract development | PMID: 15735664; ClinVar |
| Breast cancer | HEY1 overexpression promotes epithelial-mesenchymal transition and metastasis | PMID: 25722433; COSMIC |
| Colorectal cancer | HEY1 upregulation correlates with poor prognosis and stemness | PMID: 27498916; COSMIC |
| Hepatocellular carcinoma | HEY1 enhances tumor growth via Notch pathway activation | PMID: 28289187; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Skeletal muscle | 3.2 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | Embryonic kidney; high expression |
| MCF7 | 9.5 | Breast cancer; moderate expression |
| HepG2 | 7.8 | Hepatocellular carcinoma; moderate expression |
| A549 | 5.1 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss-of-function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown significance; ClinVar |
| c.500_501insA | Frameshift | <0.1% | Predicted loss-of-function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the bHLH domain or YRPW motif are predicted to abolish DNA binding and repressor activity.
Gain of Function (GOF)
Not well documented; some missense variants may enhance stability or dimerization, but evidence is limited.
Dominant Negative (DN)
Mutations in the bHLH domain may produce proteins that dimerize with wild-type partners but fail to bind DNA, interfering with normal repressor function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG hsa04330)
• Regulation of gene expression in cardiac development (Reactome R-HSA-8943724)
Protein Summary
HEY1 is a 304-amino-acid nuclear protein containing a bHLH domain and a C-terminal YRPW motif. It forms homodimers or heterodimers with other bHLH factors (e.g., HEY2, HES1) and represses transcription by recruiting co-repressors such as TLE/Groucho. The protein is essential for somitogenesis, cardiovascular morphogenesis, and neuronal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEY1 Knockout HEK293 Cell Line | EDJ-KQ424 | Human | 23462 | Details Get a Quote |
| HEY1 Knockout A-549 Cell Line | EDJ-KQ18707 | Human | 23462 | Details Get a Quote |
| HEY1 Knockout HeLa Cell Line | EDJ-KQ18708 | Human | 23462 | Details Get a Quote |
| HEY1 Knockout HCT 116 Cell Line | EDJ-KQ72688 | Human | 23462 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
