ABRAXAS1 Gene
Abraxas 1, BRCA1 A Complex Subunit
Gene Information Card
| Symbol | ABRAXAS1 |
|---|---|
| Full Name | Abraxas 1, BRCA1 A Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.23 |
| NCBI Gene ID | 84172 ncbi.nlm.nih.gov/gene/84172 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | Q6UWZ7 |
| OMIM ID | 611143 |
| HGNC ID | 25828 |
| Aliases | ABRA1, CCDC98, FAM175A, FLJ13614 |
Description
ABRAXAS1 (Abraxas 1, BRCA1 A Complex Subunit) encodes a protein that is a core component of the BRCA1-A complex, which is involved in the repair of DNA double-strand breaks via homologous recombination. The protein recruits BRCA1 to sites of DNA damage and is essential for genomic stability. Mutations in ABRAXAS1 are associated with hereditary breast cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of ABRAXAS1 impairs BRCA1 recruitment to DNA damage foci, leading to defective homologous recombination repair and genomic instability. | PMID: 17344846, PMID: 19609305 |
| Ovarian Cancer | Similar mechanism as breast cancer; ABRAXAS1 deficiency sensitizes cells to PARP inhibitors. | PMID: 19609305, PMID: 22960599 |
| Fanconi Anemia-like phenotype | Disruption of the BRCA1-A complex causes hypersensitivity to DNA crosslinking agents. | PMID: 19609305 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone Marrow | 10.8 | Medium |
| Lymph Node | 9.5 | Medium |
| Breast | 6.3 | Low |
| Ovary | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 12.4 | Moderate expression |
| HeLa (Cervical cancer) | 9.8 | Moderate expression |
| HEK293 (Embryonic kidney) | 8.2 | Moderate expression |
| K562 (Leukemia) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1082G>A (p.Arg361His) | Missense | Rare | Impaired BRCA1 binding; reduced DNA repair |
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Truncated protein; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein production; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg429*) lead to truncated protein and loss of BRCA1-A complex function, impairing DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported in ABRAXAS1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg361His) may disrupt complex assembly without complete loss of wild-type allele, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • double-strand break repair via homologous recombination |
| • BRCA1-A complex | • protein binding |
| • nucleus |
Pathways
• Homologous recombination repair (HRR)
• BRCA1-mediated DNA damage response
• Fanconi anemia pathway
Protein Summary
ABRAXAS1 is a 409-amino acid protein that contains a coiled-coil domain and a phospho-recognition domain. It directly binds to the phosphorylated form of the adaptor protein RAP80, linking the BRCA1-A complex to ubiquitin chains at DNA damage sites. This interaction is critical for the recruitment of BRCA1 to double-strand breaks and subsequent repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABRAXAS1 Knockout HEK293 Cell Line | EDJ-KQ9994 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout A-549 Cell Line | EDJ-KQ36947 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HCT 116 Cell Line | EDJ-KQ36948 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HeLa Cell Line | EDJ-KQ36949 | Human | 84142 | Details Get a Quote |
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