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 Autosomal Thrombocytopenia With Normal Platelets and Thrombocytopenia 2. Among its related pathways are Mitotic Prophase and DNA Damage. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAST2.
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.