Aliases for MYSM1 Gene
External Ids for MYSM1 Gene
Previous GeneCards Identifiers for MYSM1 Gene
GeneCards Summary for MYSM1 Gene
MYSM1 (Myb Like, SWIRM And MPN Domains 1) is a Protein Coding gene. Diseases associated with MYSM1 include Bone Marrow Failure Syndrome 4 and Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome. Among its related pathways are Metalloprotease DUBs and Deubiquitination. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is SMARCC1.
UniProtKB/Swiss-Prot Summary for MYSM1 Gene
Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal programming of B-cell responses to antigen after the maturation process (By similarity). Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity (PubMed:33086059). Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes (By similarity). Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component (By similarity). Suppresses the CGAS-STING1 signaling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains (PubMed:33086059). In the nucleus, acts as a hematopoietic transcription regulator derepressing a range of genes essential for normal stem cell differentiation including EBF1 and PAX5 in B-cells, ID2 in NK-cell progenitor or FLT3 in dendritic cell precursors (PubMed:24062447). Deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, leading to dissociation of histone H1 from the nucleosome (PubMed:17707232).