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]
Function:
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.
Subcellular Location:
Cytoplasm; cytoskeleton; centrosome. Nucleus. Cleavage furrow. During interphase is mainly nuclear, upon nuclear envelope breakdown localizes at the cytoplasm and during mitosis at the centrosomes. Upon mitotic exit moves to the cleavage furrow.
Post-translational modifications:
Phosphorylation at Thr-741 by CDK1 during M phase activates its kinase activity (By similarity). Maximum phosphorylation occurs in prometaphase.
DISEASE:
Defects in MASTL are the cause of thrombocytopenia type 2 (THC2) [MIM:37600]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.
Similarity:
Belongs to the protein kinase superfamily.
AGC Ser/Thr protein kinase family.
Contains 1 AGSLCkinase SLCterminal domain.
Contains 1 protein kinase domain.
SWISS:
Q96GX5
Gene ID:
84930
Database links:
Entrez Gene: 84930 Human
Entrez Gene: 540206 Cow
Entrez Gene: 67121 Mouse
Omim: 608221 Human
SwissProt: E1C2I2 Chicken
SwissProt: E1SFR5 Cow
SwissProt: E2RJI4 Dog
SwissProt: Q96GX5 Human
SwissProt: Q8C0P0 Mouse
Unigene: 276905 Human
Unigene: 253721 Mouse
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