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Aliases for MASTL Gene

Aliases for MASTL Gene

  • Microtubule Associated Serine/Threonine Kinase-Like 2 3
  • THC2 3 4 6
  • GWL 3 4 6
  • Microtubule-Associated Serine/Threonine-Protein Kinase-Like 3 4
  • Greatwall Kinase Homolog 2 3
  • MAST-L 3 4
  • HGWL 3 4
  • GW 3 4
  • Serine/Threonine-Protein Kinase Greatwall 3
  • Greatwall Protein Kinase 3
  • EC 2.7.11.1 4
  • GREATWALL 3
  • FLJ14813 6

External Ids for MASTL Gene

Summaries for MASTL Gene

Entrez Gene Summary 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 mastl-related thrombocytopenia 2. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein serine/threonine kinase activity and protein phosphatase 2A binding. An important paralog of this gene is STK38L.

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.

Gene Wiki entry for MASTL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MASTL Gene

Genomics for MASTL Gene

Genomic Location for MASTL Gene

Start:
27,154,824 bp from pter
End:
27,186,924 bp from pter
Size:
32,101 bases
Orientation:
Plus strand

Genomic View for MASTL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MASTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MASTL Gene

Regulatory Elements for MASTL Gene

Transcription factor binding sites by QIAGEN in the MASTL gene promoter:

Proteins for MASTL Gene

  • Protein details for MASTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GX5-GWL_HUMAN
    Recommended name:
    Serine/threonine-protein kinase greatwall
    Protein Accession:
    Q96GX5
    Secondary Accessions:
    • Q5T8D5
    • Q5T8D7
    • Q8NCD6
    • Q96SJ5

    Protein attributes for MASTL Gene

    Size:
    879 amino acids
    Molecular mass:
    97319 Da
    Quaternary structure:
    No Data Available
    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)

    Alternative splice isoforms for MASTL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MASTL Gene

Proteomics data for MASTL Gene at MOPED

Post-translational modifications for MASTL Gene

  • Phosphorylation at Thr-741 by CDK1 during M phase activates its kinase activity (By similarity). Maximum phosphorylation occurs in prometaphase.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys39, Lys179, Lys199, and Lys269

Other Protein References for MASTL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MASTL Gene

Domains for MASTL Gene

Protein Domains for MASTL Gene

UniProtKB/Swiss-Prot:

GWL_HUMAN
Domain:
  • Contains 1 AGC-kinase C-terminal domain.:
    • Q96GX5
  • Contains 1 protein kinase domain.:
    • Q96GX5
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.:
    • Q96GX5
genes like me logo Genes that share domains with MASTL: view

Function for MASTL Gene

Molecular function for MASTL Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MASTL Gene

Gene Ontology (GO) - Molecular Function for MASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 20538976
GO:0004713 protein tyrosine kinase activity --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IDA 20818157
genes like me logo Genes that share ontologies with MASTL: view
genes like me logo Genes that share phenotypes with MASTL: view

Animal Models for MASTL Gene

MGI Knock Outs for MASTL:

miRNA for MASTL Gene

miRTarBase miRNAs that target MASTL

No data available for Transcription Factor Targeting and HOMER Transcription for MASTL Gene

Localization for MASTL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MASTL Gene

Cytoplasm, cytoskeleton, microtubule organizing center, 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MASTL Gene COMPARTMENTS Subcellular localization image for MASTL gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for MASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20538976
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20538976
GO:0032154 cleavage furrow IDA 20538976
genes like me logo Genes that share ontologies with MASTL: view

Pathways for MASTL Gene

genes like me logo Genes that share pathways with MASTL: view

Pathways by source for MASTL Gene

1 Cell Signaling Technology pathway for MASTL Gene

Interacting Proteins for MASTL Gene

Gene Ontology (GO) - Biological Process for MASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IMP 20538976
GO:0000278 mitotic cell cycle TAS --
GO:0006468 protein phosphorylation IEA --
GO:0006974 cellular response to DNA damage stimulus ISS --
GO:0007067 mitotic nuclear division IMP 20538976
genes like me logo Genes that share ontologies with MASTL: view

Compounds for MASTL Gene

(2) HMDB Compounds for MASTL Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
genes like me logo Genes that share compounds with MASTL: view

Transcripts for MASTL Gene

Unigene Clusters for MASTL Gene

Microtubule associated serine/threonine kinase-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MASTL Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:
SP6: - -

Relevant External Links for MASTL Gene

GeneLoc Exon Structure for
MASTL
ECgene alternative splicing isoforms for
MASTL

Expression for MASTL Gene

mRNA expression in normal human tissues for MASTL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MASTL Gene

SOURCE GeneReport for Unigene cluster for MASTL Gene Hs.276905

genes like me logo Genes that share expressions with MASTL: view

Orthologs for MASTL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MASTL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MASTL 36
  • 99.7 (n)
  • 99.32 (a)
MASTL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MASTL 36
  • 85.65 (n)
  • 84.05 (a)
MASTL 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MASTL 36
  • 86.51 (n)
  • 83.35 (a)
MASTL 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mastl 36
  • 82.48 (n)
  • 76.33 (a)
Mastl 16
Mastl 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MASTL 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASTL 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mastl 36
  • 82.5 (n)
  • 76.42 (a)
chicken
(Gallus gallus)
Aves MASTL 36
  • 66.75 (n)
  • 61.88 (a)
MASTL 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MASTL 37
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mastl 36
  • 61.64 (n)
  • 57.18 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
mastl 36
  • 56.27 (n)
  • 53.88 (a)
mastl 37
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gwl 37
  • 35 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.31906 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1376 37
  • 35 (a)
OneToOne
Species with no ortholog for MASTL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MASTL Gene

ENSEMBL:
Gene Tree for MASTL (if available)
TreeFam:
Gene Tree for MASTL (if available)

Paralogs for MASTL Gene

Selected SIMAP similar genes for MASTL Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MASTL: view

Variants for MASTL Gene

Sequence variations from dbSNP and Humsavar for MASTL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1338 -- 27,186,764(-) AAATA(A/G)ATGAA utr-variant-3-prime
rs788217 -- 27,176,817(+) AACTT(C/T)TTGAG intron-variant
rs788218 -- 27,181,963(+) ccagc(G/T)acttg intron-variant, downstream-variant-500B
rs788219 -- 27,184,306(+) cattt(A/G)agcag intron-variant
rs788220 -- 27,158,276(+) GCACT(C/T)TGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MASTL Gene

Variant ID Type Subtype PubMed ID
esv2664616 CNV Deletion 23128226
esv2422253 CNV Deletion 17116639
nsv25396 CNV Loss 16902084

Relevant External Links for MASTL Gene

HapMap Linkage Disequilibrium report
MASTL
Human Gene Mutation Database (HGMD)
MASTL

Disorders for MASTL Gene

(1) OMIM Diseases for MASTL Gene (608221)

UniProtKB/Swiss-Prot

GWL_HUMAN
  • Thrombocytopenia 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. {ECO:0000269 PubMed:12890928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MASTL Gene

Relevant External Links for MASTL

Genetic Association Database (GAD)
MASTL
Human Genome Epidemiology (HuGE) Navigator
MASTL
genes like me logo Genes that share disorders with MASTL: view

Publications for MASTL Gene

  1. Loss of human Greatwall results in G2 arrest and multiple mitotic defects due to deregulation of the cyclin B-Cdc2/PP2A balance. (PMID: 20538976) Burgess A. … Castro A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4
  2. MASTL is the human orthologue of Greatwall kinase that facilitates mitotic entry, anaphase and cytokinesis. (PMID: 20818157) Voets E. … Wolthuis R.M.F. (Cell Cycle 2010) 3 4
  3. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. (PMID: 12890928) Gandhi M.J. … Drachman J.G. (Hum. Hered. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for MASTL Gene

  • Addgene plasmids for MASTL

Sources for MASTL Gene

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