Aliases for ABRAXAS1 Gene
External Ids for ABRAXAS1 Gene
Previous HGNC Symbols for ABRAXAS1 Gene
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for ABRAXAS1 Gene
ABRAXAS1 (Abraxas 1, BRCA1 A Complex Subunit) is a Protein Coding gene. Diseases associated with ABRAXAS1 include Inherited Cancer-Predisposing Syndrome and Tumor Predisposition Syndrome. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. An important paralog of this gene is ABRAXAS2.
UniProtKB/Swiss-Prot Summary for ABRAXAS1 Gene
Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX.