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    MASTL microtubule associated serine/threonine kinase like [ Homo sapiens (human) ]

    Gene ID: 84930, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MASTLprovided by HGNC
    Official Full Name
    microtubule associated serine/threonine kinase likeprovided by HGNC
    Primary source
    HGNC:HGNC:19042
    See related
    Ensembl:ENSG00000120539 MIM:608221; AllianceGenome:HGNC:19042
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GW; GWL; THC2; MAST-L; GREATWALL
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MASTL in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27154479..27187953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27184483..27217949)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27444281..27476882)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain containing 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2243 Neighboring gene RNA, U6 small nuclear 490, pseudogene Neighboring gene YME1 like 1 ATPase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3180 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:27444170-27444368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3181 Neighboring gene RNA, U2 small nuclear 24, pseudogene Neighboring gene acyl-CoA binding domain containing 5 Neighboring gene RNA, U7 small nuclear 12 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Savoia A, et al. Am J Hum Genet, 1999 Nov. PMID 10521306, Free PMC Article
    2. Characterization of the mechanisms controlling Greatwall activity. Vigneron S, et al. Mol Cell Biol, 2011 Jun. PMID 21444715, Free PMC Article
    3. Thrombocytopenias due to gray platelet syndrome or THC2 mutations. Di Paola J, et al. Semin Thromb Hemost, 2011 Sep. PMID 22102272
    4. Mastl kinase, a promising therapeutic target, promotes cancer recurrence. Wang L, et al. Oncotarget, 2014 Nov 30. PMID 25373736, Free PMC Article
    5. Role of Greatwall kinase in release of mouse oocytes from diplotene arrest. Zhao X, et al. Dev Growth Differ, 2014 Dec. PMID 25472593

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SILAC kinase screen identifies potential MASTL substrates.
      Title: SILAC kinase screen identifies potential MASTL substrates.
    2. MASTL regulates EGFR signaling to impact pancreatic cancer progression.
      Title: MASTL regulates EGFR signaling to impact pancreatic cancer progression.
    3. Mass-spectrometry-based proteomic correlates of grade and stage reveal pathways and kinases associated with aggressive human cancers.
      Title: Mass-spectrometry-based proteomic correlates of grade and stage reveal pathways and kinases associated with aggressive human cancers.
    4. Knockdown of Microtubule Associated Serine/threonine Kinase Like Expression Inhibits Gastric Cancer Cell Growth and Induces Apoptosis by Activation of ERK1/2 and Inactivation of NF-kappaB Signaling.
      Title: Knockdown of Microtubule Associated Serine/threonine Kinase Like Expression Inhibits Gastric Cancer Cell Growth and Induces Apoptosis by Activation of ERK1/2 and Inactivation of NF-κB Signaling.
    5. MASTL: A novel therapeutic target for Cancer Malignancy.
      Title: MASTL: A novel therapeutic target for Cancer Malignancy.
    6. MASTL promotes cell contractility and motility through kinase-independent signaling.
      Title: MASTL promotes cell contractility and motility through kinase-independent signaling.
    7. AKT Regulates Mitotic Progression of Mammalian Cells by Phosphorylating MASTL, Leading to Protein Phosphatase 2A Inactivation.
      Title: AKT Regulates Mitotic Progression of Mammalian Cells by Phosphorylating MASTL, Leading to Protein Phosphatase 2A Inactivation.
    8. MASTL depletion impaired thyroid tumor cell proliferation and increased the percentage of cells presenting nuclear anomalies, which are indicative of mitotic catastrophe.
      Title: Mitosis perturbation by MASTL depletion impairs the viability of thyroid tumor cells.
    9. The proliferative function of MASTL in these tumor cells requires its kinase activity and the presence of PP2A-B55 complexes.
      Title: Therapeutic relevance of the PP2A-B55 inhibitory kinase MASTL/Greatwall in breast cancer.
    10. Data show that MASTL expression increases in colon cancer (CC) across all cancer stages. Also, increased levels of MASTL associated with high-risk disease and poor prognosis. Further, its silencing induced cell cycle arrest and apoptosis in vitro and inhibited xenograft-tumor growth. Functional analysis revealed that MASTL expression facilitates CC progression and chemoresistance by promoting the beta-catenin/Wnt signa...
      Title: MASTL induces Colon Cancer progression and Chemoresistance by promoting Wnt/β-catenin signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14813

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase 2A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female meiosis II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase greatwall
    Names
    greatwall kinase homolog
    greatwall protein kinase
    NP_001165774.1
    NP_001165775.1
    NP_001307685.1
    NP_001307686.1
    NP_001358958.1
    NP_001358959.1
    NP_116233.2
    XP_005252688.1
    XP_005252689.1
    XP_006717582.1
    XP_006717583.1
    XP_011518053.1
    XP_016872341.1
    XP_016872342.1
    XP_016872344.1
    XP_024304011.1
    XP_024304012.1
    XP_047281872.1
    XP_047281873.1
    XP_047281874.1
    XP_047281875.1
    XP_047281876.1
    XP_054223009.1
    XP_054223010.1
    XP_054223011.1
    XP_054223012.1
    XP_054223013.1
    XP_054223014.1
    XP_054223015.1
    XP_054223016.1
    XP_054223017.1
    XP_054223018.1
    XP_054223019.1
    XP_054223020.1
    XP_054223021.1
    XP_054223022.1
    XP_054223023.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016987.1 RefSeqGene

      Range
      5529..38130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172303.3 → NP_001165774.1  serine/threonine-protein kinase greatwall isoform 1

      See identical proteins and their annotated locations for NP_001165774.1

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Consensus CDS
      CCDS53502.1
      UniProtKB/Swiss-Prot
      Q5T8D5, Q5T8D7, Q8NCD6, Q96GX5, Q96SJ5
      Related
      ENSP00000365107.5, ENST00000375940.9
      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 870
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001172304.3 → NP_001165775.1  serine/threonine-protein kinase greatwall isoform 3

      See identical proteins and their annotated locations for NP_001165775.1

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Consensus CDS
      CCDS53503.1
      UniProtKB/Swiss-Prot
      Q96GX5
      Related
      ENSP00000343446.5, ENST00000342386.10
      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:696 → 831
      PKc_like; Protein Kinases, catalytic domain

    3. NM_001320756.2 → NP_001307685.1  serine/threonine-protein kinase greatwall isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:696 → 874
      PKc_like; Protein Kinases, catalytic domain

    4. NM_001320757.2 → NP_001307686.1  serine/threonine-protein kinase greatwall isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 875
      PKc_like; Protein Kinases, catalytic domain

    5. NM_001372029.1 → NP_001358958.1  serine/threonine-protein kinase greatwall isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Conserved Domains (1) summary
      cl21453
      Location:548 → 714
      PKc_like; Protein Kinases, catalytic domain

    6. NM_001372030.1 → NP_001358959.1  serine/threonine-protein kinase greatwall isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Conserved Domains (1) summary
      cl21453
      Location:548 → 709
      PKc_like; Protein Kinases, catalytic domain

    7. NM_032844.5 → NP_116233.2  serine/threonine-protein kinase greatwall isoform 2

      See identical proteins and their annotated locations for NP_116233.2

      Status: REVIEWED

      Source sequence(s)
      AL160291
      Consensus CDS
      CCDS7153.1
      UniProtKB/Swiss-Prot
      Q96GX5
      Related
      ENSP00000365113.4, ENST00000375946.8
      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:696 → 869
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. NR_135469.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL160291

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      27154479..27187953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016853.3 → XP_016872342.1  serine/threonine-protein kinase greatwall isoform X5

    2. XM_047425916.1 → XP_047281872.1  serine/threonine-protein kinase greatwall isoform X6

    3. XM_047425919.1 → XP_047281875.1  serine/threonine-protein kinase greatwall isoform X13

    4. XM_047425917.1 → XP_047281873.1  serine/threonine-protein kinase greatwall isoform X7

    5. XM_047425920.1 → XP_047281876.1  serine/threonine-protein kinase greatwall isoform X14

    6. XM_006717519.5 → XP_006717582.1  serine/threonine-protein kinase greatwall isoform X1

      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 841
      PKc_like; Protein Kinases, catalytic domain

    7. XM_024448243.2 → XP_024304011.1  serine/threonine-protein kinase greatwall isoform X2

      Conserved Domains (2) summary
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 836
      PKc_like; Protein Kinases, catalytic domain

    8. XM_005252631.5 → XP_005252688.1  serine/threonine-protein kinase greatwall isoform X4

      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 832
      PKc_like; Protein Kinases, catalytic domain

    9. XM_005252632.5 → XP_005252689.1  serine/threonine-protein kinase greatwall isoform X8

      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 798
      PKc_like; Protein Kinases, catalytic domain

    10. XM_017016852.3 → XP_016872341.1  serine/threonine-protein kinase greatwall isoform X3

    11. XM_024448244.2 → XP_024304012.1  serine/threonine-protein kinase greatwall isoform X9

      Conserved Domains (2) summary
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:696 → 797
      PKc_like; Protein Kinases, catalytic domain

    12. XM_047425918.1 → XP_047281874.1  serine/threonine-protein kinase greatwall isoform X11

    13. XM_017016855.3 → XP_016872344.1  serine/threonine-protein kinase greatwall isoform X12

    14. XM_006717520.5 → XP_006717583.1  serine/threonine-protein kinase greatwall isoform X10

      Conserved Domains (3) summary
      COG0515
      Location:34 → 399
      SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
      cd05610
      Location:30 → 223
      STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
      cl21453
      Location:709 → 799
      PKc_like; Protein Kinases, catalytic domain

    15. XM_011519751.3 → XP_011518053.1  serine/threonine-protein kinase greatwall isoform X15

      UniProtKB/TrEMBL
      A0A087WUU7
      Conserved Domains (1) summary
      cl21453
      Location:372 → 538
      PKc_like; Protein Kinases, catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      27184483..27217949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367046.1 → XP_054223021.1  serine/threonine-protein kinase greatwall isoform X13

    2. XM_054367039.1 → XP_054223014.1  serine/threonine-protein kinase greatwall isoform X6

    3. XM_054367038.1 → XP_054223013.1  serine/threonine-protein kinase greatwall isoform X5

    4. XM_054367040.1 → XP_054223015.1  serine/threonine-protein kinase greatwall isoform X7

    5. XM_054367047.1 → XP_054223022.1  serine/threonine-protein kinase greatwall isoform X14

    6. XM_054367034.1 → XP_054223009.1  serine/threonine-protein kinase greatwall isoform X1

    7. XM_054367035.1 → XP_054223010.1  serine/threonine-protein kinase greatwall isoform X2

    8. XM_054367037.1 → XP_054223012.1  serine/threonine-protein kinase greatwall isoform X4

    9. XM_054367041.1 → XP_054223016.1  serine/threonine-protein kinase greatwall isoform X8

    10. XM_054367036.1 → XP_054223011.1  serine/threonine-protein kinase greatwall isoform X3

    11. XM_054367042.1 → XP_054223017.1  serine/threonine-protein kinase greatwall isoform X9

    12. XM_054367044.1 → XP_054223019.1  serine/threonine-protein kinase greatwall isoform X11

    13. XM_054367045.1 → XP_054223020.1  serine/threonine-protein kinase greatwall isoform X12

    14. XM_054367043.1 → XP_054223018.1  serine/threonine-protein kinase greatwall isoform X10

    15. XM_054367048.1 → XP_054223023.1  serine/threonine-protein kinase greatwall isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GX5.1 GenPept UniProtKB/Swiss-Prot:Q96GX5

    Gene LinkOut

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    Chemical Information
    Molecular Biology Databases
    Research Materials
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