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

Gene ID: 84930, updated on 18-Sep-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

NEW Try the new Transcript table

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_001172303.3NP_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:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709870
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001172304.3NP_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:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:696831
    PKc_like; Protein Kinases, catalytic domain
  3. NM_001320756.2NP_001307685.1  serine/threonine-protein kinase greatwall isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL160291
    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:696874
    PKc_like; Protein Kinases, catalytic domain
  4. NM_001320757.2NP_001307686.1  serine/threonine-protein kinase greatwall isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160291
    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709875
    PKc_like; Protein Kinases, catalytic domain
  5. NM_001372029.1NP_001358958.1  serine/threonine-protein kinase greatwall isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL160291
    Conserved Domains (1) summary
    cl21453
    Location:548714
    PKc_like; Protein Kinases, catalytic domain
  6. NM_001372030.1NP_001358959.1  serine/threonine-protein kinase greatwall isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL160291
    Conserved Domains (1) summary
    cl21453
    Location:548709
    PKc_like; Protein Kinases, catalytic domain
  7. NM_032844.5NP_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:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:696869
    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_017016853.3XP_016872342.1  serine/threonine-protein kinase greatwall isoform X5

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

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

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

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

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

    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709841
    PKc_like; Protein Kinases, catalytic domain
  7. XM_024448243.2XP_024304011.1  serine/threonine-protein kinase greatwall isoform X2

    Conserved Domains (2) summary
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709836
    PKc_like; Protein Kinases, catalytic domain
  8. XM_005252631.5XP_005252688.1  serine/threonine-protein kinase greatwall isoform X4

    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709832
    PKc_like; Protein Kinases, catalytic domain
  9. XM_005252632.5XP_005252689.1  serine/threonine-protein kinase greatwall isoform X8

    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709798
    PKc_like; Protein Kinases, catalytic domain
  10. XM_017016852.3XP_016872341.1  serine/threonine-protein kinase greatwall isoform X3

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

    Conserved Domains (2) summary
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:696797
    PKc_like; Protein Kinases, catalytic domain
  12. XM_047425918.1XP_047281874.1  serine/threonine-protein kinase greatwall isoform X11

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

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

    Conserved Domains (3) summary
    COG0515
    Location:34399
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cd05610
    Location:30223
    STKc_MASTL; Catalytic domain of the Serine/Threonine Kinase, Microtubule-associated serine/threonine-like kinase (also called greatwall kinase)
    cl21453
    Location:709799
    PKc_like; Protein Kinases, catalytic domain
  15. XM_011519751.3XP_011518053.1  serine/threonine-protein kinase greatwall isoform X15

    UniProtKB/TrEMBL
    A0A087WUU7
    Conserved Domains (1) summary
    cl21453
    Location:372538
    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_054367046.1XP_054223021.1  serine/threonine-protein kinase greatwall isoform X13

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    A0A087WUU7