BCAR1: Breast Cancer Anti-Estrogen Resistance 1
A scaffold protein involved in cell migration, adhesion, and cancer progression
Gene Information Card
| Symbol | BCAR1 |
|---|---|
| Full Name | Breast Cancer Anti-Estrogen Resistance 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 9564 ncbi.nlm.nih.gov/gene/9564 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | P56979 |
| OMIM ID | 604402 |
| HGNC ID | HGNC:972 |
| Aliases | CAS, CASS1, p130Cas |
Description
BCAR1 (Breast Cancer Anti-Estrogen Resistance 1) encodes a scaffold protein, p130Cas, that localizes to focal adhesions and regulates intracellular signaling pathways involved in cell migration, adhesion, proliferation, and survival. It is frequently overexpressed or mutated in various cancers, contributing to anti-estrogen resistance in breast cancer and promoting metastatic progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer (anti-estrogen resistance) | Overexpression of BCAR1 enhances signaling through the PI3K/AKT and MAPK pathways, bypassing estrogen receptor dependence | PMID: 10652318; COSMIC |
| Ovarian cancer | BCAR1 amplification and overexpression promote cell migration and invasion via Src-mediated phosphorylation | PMID: 19137010; COSMIC |
| Colorectal cancer | BCAR1 upregulation correlates with poor prognosis and increased metastatic potential through FAK signaling | PMID: 21573173; COSMIC |
| Lung cancer | BCAR1 expression is associated with tumor progression and resistance to tyrosine kinase inhibitors | PMID: 24947989; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Ovary | 10.1 | Medium |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression; associated with anti-estrogen resistance |
| A549 (lung cancer) | 9.8 | Moderate expression |
| HCT116 (colorectal cancer) | 14.2 | High expression |
| OVCAR3 (ovarian cancer) | 11.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | 0.2% (COSMIC) | Potential gain-of-function; increased cell migration |
| c.789_790insC (p.Arg264Profs*13) | Frameshift | 0.1% (COSMIC) | Loss-of-function; reduced protein stability |
| c.1567C>T (p.Arg523Trp) | Missense | 0.3% (COSMIC) | Unknown; located in SH3 domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Arg264Profs*13) lead to truncated protein and loss of scaffold function.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu412Lys) may enhance phosphorylation and downstream signaling.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in BCAR1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FAK signaling (Reactome: R-HSA-446728)
• Integrin signaling (Reactome: R-HSA-354192)
• PI3K/AKT signaling (Reactome: R-HSA-1257604)
• MAPK signaling (Reactome: R-HSA-5673001)
Protein Summary
BCAR1 encodes p130Cas, a 130 kDa scaffold protein containing an SH3 domain, a proline-rich region, and multiple tyrosine phosphorylation sites. It localizes to focal adhesions and interacts with FAK, Src, and Crk to regulate cytoskeletal dynamics, cell migration, and survival. Phosphorylation by Src family kinases creates docking sites for downstream effectors, linking integrin and growth factor signaling to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCAR1 Knockout HEK293 Cell Line | EDJ-KQ1304 | Human | 9564 | Details Get a Quote |
| BCAR1 Knockout A-549 Cell Line | EDJ-KQ20721 | Human | 9564 | Details Get a Quote |
| BCAR1 Knockout HCT 116 Cell Line | EDJ-KQ20722 | Human | 9564 | Details Get a Quote |
| BCAR1 Knockout HeLa Cell Line | EDJ-KQ20723 | Human | 9564 | Details Get a Quote |
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