GREB1: A Key Regulator in Hormone-Responsive Cancers
Gene Regulation by Estrogen in Breast and Endometrial Tissues
Gene Information Card
| Symbol | GREB1 |
|---|---|
| Full Name | Gene Regulated by Estrogen in Breast Cancer 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 9687 ncbi.nlm.nih.gov/gene/9687 |
| Ensembl ID | ENSG00000183778 |
| UniProt ID | Q9GZV9 |
| OMIM ID | 609247 |
| HGNC ID | 24885 |
| Aliases | GREB1A, GREB1B, KIAA0575 |
Description
GREB1 (Gene Regulated by Estrogen in Breast Cancer 1) is a protein-coding gene that plays a critical role in estrogen-stimulated cell proliferation, particularly in hormone-responsive tissues such as breast and endometrium. It is an early response gene in the estrogen signaling pathway and is implicated in the development and progression of breast and endometrial cancers. GREB1 expression is directly induced by estrogen receptor alpha (ERα) binding to estrogen response elements in its promoter region.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | GREB1 overexpression promotes estrogen-dependent proliferation; knockdown reduces tumor growth in ER+ models | PMID: 15601826, PMID: 20010872 |
| Endometrial Cancer | Elevated GREB1 expression correlates with estrogen receptor positivity and poor prognosis | PMID: 22037554 |
| Ovarian Cancer | GREB1 is upregulated in estrogen-responsive ovarian cancer cell lines and may contribute to hormone-driven growth | PMID: 20010872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Endometrium | 18.3 | High |
| Ovary | 6.2 | Low |
| Prostate | 2.1 | Not detected |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 15.4 | Estrogen-induced; high expression |
| T-47D (breast cancer) | 12.1 | Estrogen-responsive |
| Ishikawa (endometrial cancer) | 20.5 | High baseline expression |
| HeLa (cervical cancer) | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; rare in population |
| c.567G>A (p.Glu189Lys) | Missense | <0.01% | Unknown significance; reported in COSMIC |
| c.890_891insA | Frameshift | <0.05% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.890_891insA) are predicted to cause premature truncation and loss of GREB1 protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported in GREB1.
Dominant Negative (DN)
No dominant-negative mutations have been described for GREB1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Estrogen signaling pathway (KEGG: hsa04915)
• Pathways in cancer (KEGG: hsa05200)
• Endometrial cancer (KEGG: hsa05213)
Protein Summary
GREB1 encodes a 1949-amino acid protein with no known enzymatic domains but is localized to the nucleus and cytoplasm. It functions as a coactivator of estrogen receptor-mediated transcription, promoting cell cycle progression and proliferation. The protein is essential for estrogen-induced growth in breast and endometrial cancer cells. Its expression is tightly regulated by ERα and is considered a biomarker for hormone-responsive tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GREB1 Knockout HEK293 Cell Line | EDJ-KQ6041 | Human | 9687 | Details Get a Quote |
| GREB1L Knockout HEK293 Cell Line | EDJ-KQ9424 | Human | 80000 | Details Get a Quote |
| GREB1 Knockout A-549 Cell Line | EDJ-KQ31044 | Human | 9687 | Details Get a Quote |
| GREB1 Knockout HCT 116 Cell Line | EDJ-KQ31046 | Human | 9687 | Details Get a Quote |
| GREB1L Knockout A-549 Cell Line | EDJ-KQ36078 | Human | 80000 | Details Get a Quote |
| GREB1L Knockout HCT 116 Cell Line | EDJ-KQ36079 | Human | 80000 | Details Get a Quote |
| GREB1L Knockout HeLa Cell Line | EDJ-KQ36080 | Human | 80000 | Details Get a Quote |
| GREB1 Knockout HeLa Cell Line | EDJ-KQ55225 | Human | 9687 | Details Get a Quote |
