Human Gene MASTL (ENST00000375940.9) from GENCODE V44
Description: Homo sapiens microtubule associated serine/threonine kinase like (MASTL), transcript variant 6, non-coding RNA. (from RefSeq NR_135469) RefSeq Summary (NM_001172303): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000375940.9 Gencode Gene: ENSG00000120539.15 Transcript (Including UTRs) Position: hg38 chr10:27,155,352-27,187,953 Size: 32,602 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr10:27,155,427-27,186,536 Size: 31,110 Coding Exon Count: 12
ID:GWL_HUMAN DESCRIPTION: RecName: Full=Serine/threonine-protein kinase greatwall; Short=GW; Short=GWL; Short=hGWL; EC=2.7.11.1; AltName: Full=Microtubule-associated serine/threonine-protein kinase-like; Short=MAST-L; 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. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Nucleus. Cleavage furrow. Note=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. PTM: 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:188000]. 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. MISCELLANEOUS: Reduced levels of MASTL by RNAi causes mitotic abnormalities that consist of delay in G(2) phase and slow chromosome condensation. Cells that enter and progress through mitosis often fail to completely separate their sister chromatids in anaphase leading to the formation of 4N G(1) cells subsequent to failure of cytokinesis (PubMed:20818157 and PubMed:20538976). SIMILARITY: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. SIMILARITY: Contains 1 AGC-kinase C-terminal domain. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MASTL";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96GX5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
