Aliases for FAM175A Gene
External Ids for FAM175A Gene
Previous HGNC Symbols for FAM175A Gene
Previous GeneCards Identifiers for FAM175A 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 FAM175A Gene
FAM175A (Family With Sequence Similarity 175 Member A) is a Protein Coding gene. Diseases associated with FAM175A include Breast Cancer and Familial Breast Cancer. Among its related pathways are DNA Double Strand Break Response and Cell Cycle Checkpoints. GO annotations related to this gene include polyubiquitin binding. An important paralog of this gene is FAM175B.
UniProtKB/Swiss-Prot for FAM175A 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.