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 Metabolism of proteins 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 that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation. Required for correct regulation of hematopoiesis and lymphocyte differentiation (PubMed:28115216, PubMed:26220525).