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Aliases for MASTL Gene

Aliases for MASTL Gene

  • Microtubule Associated Serine/Threonine Kinase Like 2 3 5
  • Greatwall Kinase Homolog 2 3
  • MAST-L 3 4
  • THC2 3 4
  • GWL 3 4
  • GW 3 4
  • Microtubule-Associated Serine/Threonine-Protein Kinase-Like 4
  • Microtubule Associated Serine/Threonine Kinase-Like 2
  • Greatwall Protein Kinase 3
  • EC 2.7.11.1 4
  • GREATWALL 3
  • HGWL 4

External Ids for MASTL Gene

Previous GeneCards Identifiers for MASTL Gene

  • GC10P027448
  • GC10P027484

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 thrombocytopenia 2 and autosomal thrombocytopenia with normal platelets. Among its related pathways are Mitotic Prophase and Cell Cycle, Mitotic. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.

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

Regulatory Elements for MASTL Gene

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

Genomic Location for MASTL Gene

Chromosome:
10
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

Genes around MASTL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MASTL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MASTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MASTL Gene

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.
  • Ubiquitination at Lys 39, Lys 179, and Lys 269
  • Modification sites at PhosphoSitePlus

Other Protein References for MASTL Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MASTL (MASTL)

No data available for DME Specific Peptides for MASTL Gene

Domains & Families for MASTL Gene

Protein Domains for MASTL Gene

Suggested Antigen Peptide Sequences for MASTL Gene

Graphical View of Domain Structure for InterPro Entry

Q96GX5

UniProtKB/Swiss-Prot:

GWL_HUMAN :
  • Contains 1 AGC-kinase C-terminal domain.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
Domain:
  • Contains 1 AGC-kinase C-terminal domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
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:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MASTL: view
genes like me logo Genes that share phenotypes with MASTL: view

Human Phenotype Ontology for MASTL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MASTL Gene

MGI Knock Outs for MASTL:

Animal Model Products

  • Taconic Biosciences Mouse Models for MASTL

miRNA for MASTL Gene

miRTarBase miRNAs that target MASTL

No data available for Transcription Factor Targets 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
genes like me logo Genes that share ontologies with MASTL: view

Pathways & Interactions for MASTL Gene

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

Pathways by source 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:0006974 cellular response to DNA damage stimulus ISS --
GO:0007067 mitotic nuclear division IMP 20538976
GO:0018105 peptidyl-serine phosphorylation IBA --
GO:0035556 intracellular signal transduction IBA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with MASTL: view

No data available for SIGNOR curated interactions for MASTL Gene

Drugs & Compounds for MASTL Gene

(1) Drugs for MASTL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for MASTL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 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 in normal tissues and cell lines 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 expression patterns with MASTL: view

Protein tissue co-expression partners for MASTL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MASTL Gene

Orthologs for MASTL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MASTL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MASTL 35
  • 85.65 (n)
  • 84.05 (a)
MASTL 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MASTL 35
  • 86.51 (n)
  • 83.35 (a)
MASTL 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mastl 35
  • 82.48 (n)
  • 76.33 (a)
Mastl 16
Mastl 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MASTL 35
  • 99.7 (n)
  • 99.32 (a)
MASTL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mastl 35
  • 82.5 (n)
  • 76.42 (a)
oppossum
(Monodelphis domestica)
Mammalia MASTL 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASTL 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MASTL 35
  • 66.75 (n)
  • 61.88 (a)
MASTL 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MASTL 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mastl 35
  • 61.64 (n)
  • 57.18 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mastl 35
  • 56.27 (n)
  • 53.88 (a)
mastl 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gwl 36
  • 35 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.31906 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1376 36
  • 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

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

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

No data available for Paralogs for MASTL Gene

Variants for MASTL Gene

Sequence variations from dbSNP and Humsavar for MASTL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs28941470 Thrombocytopenia 2 (THC2) 27,161,130(+) AATGA(C/G)GGTCA nc-transcript-variant, reference, missense
rs3802526 - 27,170,817(-) TTTTG(C/G)TGAGG nc-transcript-variant, reference, missense
rs36121140 - 27,169,969(+) CCCAA(A/C)AATGA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs35571315 - 27,170,787(+) TTATT(A/G)TAACA nc-transcript-variant, reference, missense
rs35413630 - 27,170,775(+) TTGAA(G/T)ATCCA nc-transcript-variant, reference, missense

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

Variation tolerance for MASTL Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MASTL Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MASTL Gene

Disorders for MASTL Gene

MalaCards: The human disease database

(5) MalaCards diseases for MASTL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia 2
  • thrombocytopenia-2
autosomal thrombocytopenia with normal platelets
mastl-related thrombocytopenia 2
  • thrombocytopenia, autosomal dominant
thrombocytopenia
gray platelet syndrome
  • gps
- elite association - COSMIC cancer census association via MalaCards
Search MASTL in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MASTL

Genetic Association Database (GAD)
MASTL
Human Genome Epidemiology (HuGE) Navigator
MASTL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MASTL
genes like me logo Genes that share disorders with MASTL: view

No data available for Genatlas for MASTL Gene

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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. PP2A/B55 and Fcp1 regulate Greatwall and Ensa dephosphorylation during mitotic exit. (PMID: 24391510) HAcgarat N. … Hochegger H. (PLoS Genet. 2014) 3
  4. Mastl kinase, a promising therapeutic target, promotes cancer recurrence. (PMID: 25373736) Wang L. … Peng A. (Oncotarget 2014) 3
  5. Role of Greatwall kinase in release of mouse oocytes from diplotene arrest. (PMID: 25472593) Zhao X. … Yu B. (Dev. Growth Differ. 2014) 3

Products for MASTL Gene

Sources for MASTL Gene

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