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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
  • Serine/Threonine-Protein Kinase Greatwall 3
  • 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. An important paralog of this gene is MAST4.

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

Enhancers for MASTL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F027152 1 ENCODE 57.5 +0.2 158 5.2 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MASTL ANKRD26 ENSG00000227932 LINC00202-1 LRRC37A6P YME1L1
GH10F027238 1.3 FANTOM5 ENCODE 49.8 +86.7 86673 5.3 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 MASTL ANKRD26 ABI1 ACBD5 YME1L1 RNU7-12P
GH10F027234 0.6 ENCODE 38.7 +79.6 79571 0.7 ELF3 PKNOX1 ZNF384 FEZF1 ZNF121 ZNF664 ZNF316 TCF7L2 ZNF362 HLF MASTL YME1L1 LINC00202-2 RNU7-12P ACBD5
GH10F027099 0.6 ENCODE 38.1 -54.4 -54365 2.2 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 YY1 MASTL ANKRD26 LINC00202-1 GC10M027087
GH10F027191 1.3 FANTOM5 Ensembl ENCODE 37.9 +37.6 37608 1.1 HIC1 JUND JUN BHLHE40 USF2 MAX FOS MASTL PTCHD3 RNU2-24P GC10P027160
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MASTL on UCSC Golden Path with GeneCards custom track

Promoters for MASTL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001421970 76 4201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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).

    Three dimensional structures from OCA and Proteopedia for MASTL Gene

    Alternative splice isoforms for MASTL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MASTL Gene

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

Antibody Products

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

No data available for DME Specific Peptides for MASTL Gene

Domains & Families 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:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA,IDA 20818157
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

Flow Cytometry Products

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 IEA,IDA 20538976
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 20538976
GO:0005815 microtubule organizing center IEA --
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

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:0006468 protein phosphorylation IEA --
GO:0006974 cellular response to DNA damage stimulus ISS --
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IMP 20538976
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MASTL Gene



Protein tissue co-expression partners for MASTL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MASTL Gene:

MASTL

SOURCE GeneReport for Unigene cluster for MASTL Gene:

Hs.276905
genes like me logo Genes that share expression patterns with MASTL: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MASTL 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia MASTL 34 35
  • 86.51 (n)
cow
(Bos Taurus)
Mammalia MASTL 34 35
  • 85.65 (n)
rat
(Rattus norvegicus)
Mammalia Mastl 34
  • 82.5 (n)
mouse
(Mus musculus)
Mammalia Mastl 34 16 35
  • 82.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MASTL 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MASTL 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MASTL 34 35
  • 66.75 (n)
lizard
(Anolis carolinensis)
Reptilia MASTL 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mastl 34
  • 61.64 (n)
zebrafish
(Danio rerio)
Actinopterygii mastl 34 35
  • 56.27 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta gwl 35
  • 35 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.31906 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1376 35
  • 35 (a)
OneToOne
Species where no ortholog for MASTL was found in the sources mined by GeneCards:
  • 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

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

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) [MIM:188000], Pathogenic 27,161,130(+) AATGA(C/G)GGTCA nc-transcript-variant, reference, missense
rs141066111 Likely benign 27,171,103(+) TTCTA(A/C)TACTG intron-variant
rs151176548 Likely benign 27,155,460(+) AGCCT(C/G)GAGGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs751360036 Likely benign 27,180,944(+) CTCTT(C/G/T)GATTA intron-variant
rs10741130 Benign 27,186,515(+) CTGAC(C/T)GTATC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv2422253 CNV deletion 17116639
esv2664616 CNV deletion 23128226
esv3622708 CNV gain 21293372
esv3622709 CNV gain 21293372
nsv1116452 OTHER inversion 24896259
nsv25396 CNV deletion 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

Human Gene Mutation Database (HGMD)
MASTL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, 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 64
  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 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MASTL Gene

Sources for MASTL Gene

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