ESRRA (Estrogen Related Receptor Alpha)
Nuclear receptor involved in energy metabolism, mitochondrial biogenesis, and cancer biology
Gene Information Card
| Symbol | ESRRA |
|---|---|
| Full Name | Estrogen Related Receptor Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 2099 ncbi.nlm.nih.gov/gene/2099 |
| Ensembl ID | ENSG00000173153 |
| UniProt ID | P11474 |
| OMIM ID | 601998 |
| HGNC ID | 3471 |
| Aliases | ERR1, ERRalpha, NR3B1, ESRL1 |
Description
ESRRA encodes estrogen-related receptor alpha (ERRα), an orphan nuclear receptor that regulates genes involved in energy metabolism, mitochondrial biogenesis, and oxidative phosphorylation. ERRα functions as a transcription factor, binding to estrogen response elements (EREs) and interacting with coactivators such as PGC-1α. It plays critical roles in adaptive thermogenesis, muscle metabolism, and cancer cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ERRα overexpression promotes metabolic reprogramming and proliferation in ER-negative breast cancer | PMID: 19435878 |
| Prostate Cancer | ERRα drives androgen-independent growth via metabolic gene activation | PMID: 20628056 |
| Colorectal Cancer | ERRα upregulation correlates with poor prognosis and Warburg effect | PMID: 25944712 |
| Metabolic Syndrome | ERRα variants associated with altered lipid metabolism and insulin resistance | PMID: 17982160 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.3 | High |
| Liver | 12.1 | Medium |
| Kidney | 10.8 | Medium |
| Breast | 6.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | ERRα highly expressed |
| LNCaP (prostate cancer) | 12.8 | Moderate expression |
| HepG2 (liver cancer) | 9.5 | Moderate expression |
| HeLa (cervical cancer) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | <0.01% | Unknown functional effect |
| c.425G>A (p.Arg142Gln) | Missense | <0.01% | Reduced transcriptional activity |
| c.1042G>A (p.Glu348Lys) | Missense | <0.01% | Altered coactivator binding |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg142Gln) reduce transactivation capacity.
Gain of Function (GOF)
Not well documented; overexpression in cancer may mimic gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear Receptor Transcription Pathway
• PGC-1α Signaling Pathway
• Mitochondrial Biogenesis
• Oxidative Phosphorylation
• Metabolic Reprogramming in Cancer
Protein Summary
ERRα is a 423-amino acid nuclear receptor with a conserved DNA-binding domain (DBD) and ligand-binding domain (LBD). It functions as a constitutively active transcription factor, regulating genes involved in energy homeostasis, mitochondrial function, and cell proliferation. ERRα interacts with PGC-1α and other coactivators to modulate metabolic gene expression. Its activity is implicated in cancer metabolism, particularly in breast and prostate cancers, where it supports tumor growth under metabolic stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESRRA Knockout HEK293 Cell Line | EDJ-KQ4554 | Human | 2101 | Details Get a Quote |
| ESRRA Knockout A-549 Cell Line | EDJ-KQ27194 | Human | 2101 | Details Get a Quote |
| ESRRA Knockout HCT 116 Cell Line | EDJ-KQ27195 | Human | 2101 | Details Get a Quote |
| ESRRA Knockout HeLa Cell Line | EDJ-KQ27196 | Human | 2101 | Details Get a Quote |
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