BABAM1

BRCA1-A complex subunit MERIT40 is a protein that in humans is encoded by the BABAM1 gene.^[5][6]

BABAM1
Identifiers
Aliases	BABAM1, C19orf62, MERIT40, NBA1, HSPC142, BRISC and BRCA1 A complex member 1
External IDs	OMIM: 612766; MGI: 1915501; HomoloGene: 8574; GeneCards: BABAM1; OMA:BABAM1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.11 Start 17,267,376 bp[1] End 17,281,249 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.3|8 Start 71,849,505 bp[2] End 71,857,263 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex right frontal lobe anterior cingulate cortex granulocyte cerebellar hemisphere right hemisphere of cerebellum apex of heart muscle of thigh gastrocnemius muscle Brodmann area 9 Top expressed in neural layer of retina right kidney muscle of thigh temporal muscle dentate gyrus of hippocampal formation granule cell triceps brachii muscle ventricular zone sternocleidomastoid muscle yolk sac ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm BRCA1-A complex nucleus BRISC complex nucleoplasm cytosol nuclear body Biological process response to ionizing radiation cell cycle positive regulation of DNA repair protein K63-linked deubiquitination double-strand break repair via nonhomologous end joining cellular response to DNA damage stimulus cell division double-strand break repair DNA repair protein deubiquitination mitotic G2 DNA damage checkpoint signaling chromatin organization hematopoietic stem cell proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29086 68251 Ensembl ENSG00000105393 ENSMUSG00000031820 UniProt Q9NWV8 Q3UI43 RefSeq (mRNA) NM_014173 NM_001033549 NM_001288756 NM_001288757 NM_026636 RefSeq (protein) NP_001028721 NP_001275685 NP_001275686 NP_054892 NP_080912 Location (UCSC) Chr 19: 17.27 – 17.28 Mb Chr 8: 71.85 – 71.86 Mb PubMed search [3] [4]
Wikidata
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Interactions

BABAM1 has been shown to interact with BRE.^[7][8]

Repair of DNA damage

MERIT40, the protein product of the BABAM1 gene, is a core component of the deubiquitin complex BRCA1-A.^[9] Other core components of the BRCA1-A complex are the BRCC36 protein (BRCC3 gene), BRE protein (BRE (gene)), and RAP80 protein (UIMC1 gene).^[9] 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).^[9] 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.