DISEASES

Disease-gene associations mined from literature

Literature associating MASTL and thrombocytopenia

MASTL [ENSP00000365107]

Serine/threonine-protein kinase greatwall; Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser- 62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation. ECO:0000269|PubMed:19793917, ECO:0000269|PubMed:20538976,

Synonyms:  MASTL,  A0A087WUU7,  Q96GX5,  Q96GX5p,  hQ96GX5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM