BABAM1

Description

The BABAM1 (BRISC and BRCA1 A complex member 1) is a protein-coding gene located on chromosome 19.

BRCA1-A complex subunit MERIT40 is a protein that in humans is encoded by the BABAM1 gene.

== Interactions == BABAM1 has been shown to interact with BRE.

== Repair of DNA damage == MERIT40, the protein product of the BABAM1 gene, is a core component of the deubiquitin complex BRCA1-A. Other core components of the BRCA1-A complex are the BRCC36 protein (BRCC3 gene), BRE protein (BRE (gene)), and RAP80 protein (UIMC1 gene). MERIT40 protein binds ubiquitin with high affinity. BRCA1, as distinct from BRCA1-A, is employed in the repair of chromosomal damage with an important role in the error-free homologous recombinational (HR) repair of DNA double-strand breaks. Sequestration of BRCA1 away from the DNA damage site suppresses homologous recombination and redirects the cell in the direction of repair by the process of non-homologous end joining (NHEJ). The role of BRCA1-A appears to be to bind BRCA1 with high affinity and withdraw it away from the site of DNA damage to the periphery where it remains sequestered, thus promoting NHEJ in preference to HR.

== References ==

== External links == Human BABAM1 genome location and BABAM1 gene details page in the UCSC Genome Browser.

BABAM1 is a component of the BRCA1-A complex, which recognizes ubiquitinated histones H2A and H2AX at DNA damage sites, specifically 'Lys-63'-linked modifications. This recognition targets the BRCA1-BARD1 heterodimer to sites of DNA damage, particularly double-strand breaks (DSBs). The BRCA1-A complex also exhibits deubiquitinase activity, specifically removing 'Lys-63'-linked ubiquitin from histones H2A and H2AX. BABAM1's presence is crucial for maintaining the integrity and proper localization of the BRCA1-A complex at DSBs. Additionally, BABAM1 is part of the BRISC complex, a multiprotein complex that removes 'Lys-63'-linked ubiquitin from various substrates. Within both complexes, BABAM1 likely plays a role in stabilizing BABAM2 and supporting the 'Lys-63'-linked deubiquitinase activity facilitated by the BRCC3/BRCC36 component. The BRISC complex is essential for normal mitotic spindle assembly and microtubule attachment to kinetochores through its deubiquitination of NUMA1. BABAM1 participates in interferon signaling by deubiquitinating the interferon receptor IFNAR1, which enhances its stability, cell surface expression, and activity. Furthermore, BABAM1 downregulates the response to bacterial lipopolysaccharide (LPS) by deubiquitinating IFNAR1.

BABAM1 is also known as C19orf62, HSPC142, MERIT40, NBA1.

Associated Diseases

WES Whole Exome Sequencing