MYSM1
Description
The MYSM1 (Myb like, SWIRM and MPN domains 1) is a protein-coding gene located on chromosome 1.
MYSM1 is a metalloprotease with deubiquitinase activity that plays a crucial role in regulating hematopoietic stem cell function, blood cell production, and immune response. It participates in the normal programming of B-cell responses to antigen after maturation. In the cytoplasm, MYSM1 is involved in repressing innate immunity and autoimmunity by removing 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes. It also attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2. Moreover, MYSM1 suppresses the CGAS-STING1 signaling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains. In the nucleus, MYSM1 acts as a hematopoietic transcription regulator, derepressing genes essential for normal stem cell differentiation, including EBF1 and PAX5 in B-cells, ID2 in NK-cell progenitors, and FLT3 in dendritic cell precursors. Additionally, MYSM1 deubiquitinates monoubiquitinated histone H2A, leading to the dissociation of histone H1 from the nucleosome.
MYSM1 is also known as 2A-DUB, 2ADUB, BMFS4.
Associated Diseases
- Bone marrow failure syndrome 4
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
