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 Ovarian Cancer and Breast Cancer. Among its related pathways are DNA Double Strand Break Response and Metabolism of proteins. 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.