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

Gene ID: 84930, updated on 1-Jun-2020

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
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

Genomic context

See MASTL in Genome Data Viewer
Location:
10p12.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (27154479..27187953)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27443753..27475848)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 238 member C Neighboring gene ankyrin repeat domain 26 Neighboring gene RNA, U6 small nuclear 490, pseudogene Neighboring gene YME1 like 1 ATPase 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
  • 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

Homology

Clone Names

  • FLJ14813

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase 2A binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
female meiosis II IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cleavage furrow IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_016872345.1
XP_024304011.1
XP_024304012.1

NCBI Reference Sequences (RefSeq)

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
    Q96GX5
    Related
    ENSP00000365107.4, ENST00000375940.8
    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: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
  6. NM_001372030.1NP_001358959.1  serine/threonine-protein kinase greatwall isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL160291
  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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006717519.4XP_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
  2. XM_024448243.1XP_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
  3. XM_005252631.4XP_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
  4. XM_024448244.1XP_024304012.1  serine/threonine-protein kinase greatwall isoform X7

    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
  5. XM_017016853.2XP_016872342.1  serine/threonine-protein kinase greatwall isoform X5

  6. XM_005252632.4XP_005252689.1  serine/threonine-protein kinase greatwall isoform X6

    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
  7. XM_017016852.2XP_016872341.1  serine/threonine-protein kinase greatwall isoform X3

  8. XM_017016856.2XP_016872345.1  serine/threonine-protein kinase greatwall isoform X10

  9. XM_017016855.2XP_016872344.1  serine/threonine-protein kinase greatwall isoform X9

  10. XM_006717520.4XP_006717583.1  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:709799
    PKc_like; Protein Kinases, catalytic domain
  11. XM_011519751.2XP_011518053.1  serine/threonine-protein kinase greatwall isoform X11

    Conserved Domains (1) summary
    cl21453
    Location:372538
    PKc_like; Protein Kinases, catalytic domain
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