• Gene id: 84930

Gene Summary

• Gene Symbol: MASTL   Gene   UCSC   Ensembl
• Aliases: GREATWALL, GW, GWL, MAST-L, THC2
• Gene name: microtubule associated serine/threonine kinase like
• Alternate names: serine/threonine-protein kinase greatwall, greatwall kinase homolog, greatwall protein kinase,
• Gene location: 10p12.1 (236394285: 236484929)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 608221

Protein Summary

• Protein general information: Q96GX5  
  • Name: Serine/threonine protein kinase greatwall (GW) (GWL) (hGWL) (EC 2.7.11.1) (Microtubule associated serine/threonine protein kinase like) (MAST L)
  • Length: 879  
  • Mass: 97319
• Sequence:

  MDPTAGSKKEPGGGAATEEGVNRIAVPKPPSIEEFSIVKPISRGAFGKVYLGQKGGKLYAVKVVKKADMINKNMT
  HQVQAERDALALSKSPFIVHLYYSLQSANNVYLVMEYLIGGDVKSLLHIYGYFDEEMAVKYISEVALALDYLHRH
  GIIHRDLKPDNMLISNEGHIKLTDFGLSKVTLNRDINMMDILTTPSMAKPRQDYSRTPGQVLSLISSLGFNTPIA
  EKNQDPANILSACLSETSQLSQGLVCPMSVDQKDTTPYSSKLLKSCLETVASNPGMPVKCLTSNLLQSRKRLATS
  SASSQSHTFISSVESECHSSPKWEKDCQESDEALGPTMMSWNAVEKLCAKSANAIETKGFNKKDLELALSPIHNS
  SALPTTGRSCVNLAKKCFSGEVSWEAVELDVNNINMDTDTSQLGFHQSNQWAVDSGGISEEHLGKRSLKRNFELV
  DSSPCKKIIQNKKTCVEYKHNEMTNCYTNQNTGLTVEVQDLKLSVHKSQQNDCANKENIVNSFTDKQQTPEKLPI
  PMIAKNLMCELDEDCEKNSKRDYLSSSFLCSDDDRASKNISMNSDSSFPGISIMESPLESQPLDSDRSIKESSFE
  ESNIEDPLIVTPDCQEKTSPKGVENPAVQESNQKMLGPPLEVLKTLASKRNAVAFRSFNSHINASNNSEPSRMNM
  TSLDAMDISCAYSGSYPMAITPTQKRRSCMPHQQTPNQIKSGTPYRTPKSVRRGVAPVDDGRILGTPDYLAPELL
  LGRAHGPAVDWWALGVCLFEFLTGIPPFNDETPQQVFQNILKRDIPWPEGEEKLSDNAQSAVEILLTIDDTKRAG
  MKELKRHPLFSDVDWENLQHQTMPFIPQPDDETDTSYFEARNTAQHLTVSGFSL

• Structural information:
  • Protein Domains: (35..83-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (836..87-)
    (/note="AGC-kinase-C-terminal")
  • Interpro: IPR000961  IPR011009  IPR037638  IPR000719  IPR008271  
  • Prosite: PS51285 PS50011 PS00108
  • CDD: cd05610
  • PDB: 5LOH
  • PDBsum: 5LOH
  • STRING: ENSP00000365107
• Other Databases: GeneCards:  MASTL  Malacards:  MASTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0051721	protein phosphatase 2A binding	ISS	molecular function
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	ISS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:1904668	positive regulation of ubiquitin protein ligase activity	IEA	biological process
GO:0007147	female meiosis II	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0016301	kinase activity	IDA	molecular function
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0051726	regulation of cell cycle	IMP	biological process

Diseases

Associated diseases	References
Thrombocytopenia	KEGG:H00978
Thrombocytopenia	KEGG:H00978
Thrombocytopenia	PMID:12890928
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray