MASTL Gene (Protein Coding)

Microtubule Associated Serine/Threonine Kinase Like

GC10P027112
GIFtS:
44
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] See more...

Aliases for MASTL Gene

Aliases for MASTL Gene

  • Microtubule Associated Serine/Threonine Kinase Like 2 3 5
  • Serine/Threonine-Protein Kinase Greatwall 3 4
  • 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 Autosomal Thrombocytopenia With Normal Platelets and Thrombocytopenia. Among its related pathways are Cell Cycle, Mitotic and Mitotic Prophase. Gene Ontology (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 Summary 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

Additional gene information for MASTL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MASTL Gene

Genomics for MASTL Gene

GeneHancer (GH) Regulatory Elements for MASTL Gene

Promoters and enhancers for MASTL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MASTL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MASTL gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for MASTL Gene

Genomic Locations for MASTL Gene
chr10:27,154,824-27,186,924
(GRCh38/hg38)
Size:
32,101 bases
Orientation:
Plus strand
chr10:27,443,753-27,475,853
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for MASTL Gene

Proteins for MASTL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MASTL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys39, Lys179, Lys199, and Lys269
  • Modification sites at PhosphoSitePlus

Other Protein References for MASTL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for MASTL

No data available for DME Specific Peptides for MASTL Gene

Domains & Families for MASTL Gene

Gene Families for MASTL Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MASTL Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MASTL Gene

GenScript: Design optimal peptide antigens:
  • Microtubule-associated serine/threonine-protein kinase-like (GWL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GX5

UniProtKB/Swiss-Prot:

GWL_HUMAN :
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MASTL Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.

Enzyme Numbers (IUBMB) for MASTL Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
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

Animal Models for MASTL Gene

MGI Knock Outs for MASTL:

Animal Model Products

  • Taconic Biosciences Mouse Models for MASTL

CRISPR Products

miRNA for MASTL Gene

miRTarBase miRNAs that target MASTL

Clone Products

  • Addgene plasmids for MASTL

No data available for Human Phenotype Ontology , 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. {ECO:0000269 PubMed:20818157}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MASTL gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 20538976
GO:0005654 nucleoplasm TAS,IDA --
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

PathCards logo

SuperPathways 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

SIGNOR curated interactions for MASTL Gene

Activates:
Is activated by:

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 IMP 20538976
GO:0006468 protein phosphorylation IEA --
GO:0006974 cellular response to DNA damage stimulus ISS --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with MASTL: view

Drugs & Compounds for MASTL Gene

Products:

  1. Drug

(1) Drugs for MASTL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with MASTL: view

Transcripts for MASTL Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MASTL Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(83) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MASTL

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MASTL Gene

mRNA expression in normal human tissues for MASTL Gene
mRNA expression by BioGPS for MASTL GenemRNA expression by GTEx 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, 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

Evidence on tissue expression from TISSUES for MASTL Gene

  • Pancreas(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MASTL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeleton
Regions:
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with MASTL: view

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 33 32
  • 99.7 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MASTL 33 32
  • 86.51 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MASTL 33 32
  • 85.65 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mastl 32
  • 82.5 (n)
mouse
(Mus musculus)
 Mammalia Mastl 17 33 32
  • 82.48 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MASTL 33
  • 67 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MASTL 33
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MASTL 33 32
  • 66.75 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MASTL 33
  • 59 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mastl 32
  • 61.64 (n)
zebrafish
(Danio rerio)
 Actinopterygii mastl 33 32
  • 56.27 (n)
 OneToOne
-- 32
fruit fly
(Drosophila melanogaster)
 Insecta gwl 33
  • 35 (a)
 OneToOne
rice
(Oryza sativa)
 Liliopsida Os.31906 32
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1376 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MASTL: view image

Paralogs for MASTL Gene

Paralogs for MASTL Gene

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

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

Variants for MASTL Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MASTL Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10741130 benign, likely-benign, not specified, Thrombocytopenia 27,186,515(+) T/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs10764686 benign, likely-benign, not specified, Thrombocytopenia 27,186,565(+) T/C/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs10764687 likely-benign, Thrombocytopenia 27,186,650(+) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs115175971 uncertain-significance, Thrombocytopenia 27,180,984(+) T/C coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs1338 likely-benign, Thrombocytopenia 27,186,764(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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)

Additional Variant Information for MASTL Gene

Human Gene Mutation Database (HGMD)
MASTL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MASTL

SNP Genotyping and Copy Number Assay Products

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

Disorders for MASTL Gene

MalaCards: The human disease database

(4) MalaCards diseases for MASTL Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- 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
  • Note=Defects in MASTL may play a role in the pathogenesis of thrombocytopenia, a disorder defined by reduced number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269 PubMed:12890928}.

Additional Disease Information for MASTL

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

No data available for Genatlas for MASTL Gene

Publications for MASTL Gene

  1. MASTL is the human orthologue of Greatwall kinase that facilitates mitotic entry, anaphase and cytokinesis. (PMID: 20818157) Voets E … Wolthuis RM (Cell cycle (Georgetown, Tex.) 2010) 3 4 56
  2. 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 (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 56
  3. In vivo inactivation of MASTL kinase results in thrombocytopenia. (PMID: 19460416) Johnson HJ … Drachman JG (Experimental hematology 2009) 4 23 56
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 43 56

ExternalLinks

View latest publications for MASTL gene in Mastermind

Products for MASTL Gene

  • Addgene plasmids for MASTL
  • Boster Bio Antibodies for MASTL
  • Boster Bio ELISA Kits for MASTL

Sources for MASTL Gene