Aliases for BABAM1 Gene
External Ids for BABAM1 Gene
Previous HGNC Symbols for BABAM1 Gene
Previous GeneCards Identifiers for BABAM1 Gene
GeneCards Summary for BABAM1 Gene
BABAM1 (BRISC And BRCA1 A Complex Member 1) is a Protein Coding gene. Diseases associated with BABAM1 include Cherubism. Among its related pathways are DNA Damage and DNA Double Strand Break Response. An important paralog of this gene is ENSG00000269307.
UniProtKB/Swiss-Prot for BABAM1 Gene
Component of the BRCA1-A complex, a complex that specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the Lys-63-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).