Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Imp...[+]

Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Important for stability of PR-DUB components and stimulating its ubiquitinase activity. As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3. The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in cell growth and survivability. MBD5 and MBD6 containing complexes associate with distinct chromatin regions enriched in genes involved in different pathways. Heterochromatin recruitment is not mediated by DNA methylation. The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in development, cell communication, signaling, cell proliferation and cell viability.; Methyl-CpG-binding domain protein 5 [-]

             autosomal dominant intellectual developmental disorder 1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD