Aliases for MASTL Gene
External Ids for MASTL Gene
Previous GeneCards Identifiers for MASTL Gene
This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]
GeneCards Summary for MASTL Gene
MASTL (Microtubule Associated Serine/Threonine Kinase Like) is a Protein Coding gene. Diseases associated with MASTL include thrombocytopenia 2 and autosomal thrombocytopenia with normal platelets. Among its related pathways are Mitotic Prophase and Cell Cycle, Mitotic. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.
UniProtKB/Swiss-Prot for MASTL Gene
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.