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MAST4 microtubule associated serine/threonine kinase family member 4 [ Homo sapiens (human) ]

Gene ID: 375449, updated on 12-Oct-2019

Summary

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Official Symbol
MAST4provided by HGNC
Official Full Name
microtubule associated serine/threonine kinase family member 4provided by HGNC
Primary source
HGNC:HGNC:19037
See related
Ensembl:ENSG00000069020 MIM:618002
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
Summary
This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in esophagus (RPKM 3.2), fat (RPKM 2.7) and 23 other tissues See more
Orthologs
mouse all

Genomic context

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See MAST4 in Genome Data Viewer
Location:
5q12.3
Exon count:
42
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (66596354..67169595)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65892176..66465426)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379002 Neighboring gene long intergenic non-protein coding RNA 2229 Neighboring gene peptidylprolyl isomerase A pseudogene 78 Neighboring gene MAST4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2367 Neighboring gene CD180 molecule Neighboring gene uncharacterized LOC101928819

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
  • 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. [Identification of a novel human MAST4 gene, a new member of the microtubule associated serine-threonine kinase family]. Sun L, et al. Mol Biol (Mosk), 2006 Sep-Oct. PMID 17086981
  2. Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. Landoulsi Z, et al. Neurogenetics, 2018 Aug. PMID 29948376
  3. A genome-wide association study of carotid atherosclerosis in HIV-infected men. Shrestha S, et al. AIDS, 2010 Feb 20. PMID 20009918, Free PMC Article
  4. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. EPICURE Consortium., et al. Hum Mol Genet, 2012 Dec 15. PMID 22949513
  5. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. Martins-de-Souza D, et al. J Proteome Res, 2012 Apr 6. PMID 22360420

See all (12) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular studies incriminated different genes, mainly CACNA1H and MAST4. Since at least 2 susceptibility genes were likely shared by different populations, genetic factors involved in the majority of Tunisian Genetic generalized epilepsies families remain to be discovered.
    Title: Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
  2. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
    Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. high expression level of MAST4 in most normal human tissues, with an exception of in testis, small intestine, colon and peripheral blood leukocyte.
    Title: [Identification of a novel human MAST4 gene, a new member of the microtubule associated serine-threonine kinase family].
Submit: New GeneRIF Correction

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

NHGRI GWAS Catalog

Description
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
NHGRI GWA Catalog
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
NHGRI GWA Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16540, FLJ33039, KIAA0303, DKFZp686N1467, DKFZp686E18148

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
  
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
microtubule-associated serine/threonine-protein kinase 4
NP_001158136.1
NP_001277155.1
NP_001277156.1
NP_001277157.1
NP_001284580.1
NP_055998.1
NP_942123.1
XP_006714669.1
XP_006714673.1
XP_011541686.1
XP_011541687.1
XP_011541688.1
XP_016864938.1
XP_016864939.1
XP_016864940.1
XP_016864941.1
XP_016864942.1
XP_024301812.1

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_034036.1 RefSeqGene

    Range
    5046..578246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164664.2 → NP_001158136.1  microtubule-associated serine/threonine-protein kinase 4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AC008872, AC008920, AC016634, AC044799, AC092373
    Consensus CDS
    CCDS54861.1
    UniProtKB/TrEMBL
    J3QT34
    Related
    ENSP00000385727.1, ENST00000403625.6
    Conserved Domains (4) summary
    cd00992
    Location:1146 → 1224
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:569 → 848
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:258 → 531
    DUF1908; Domain of unknown function (DUF1908)
    cl26464
    Location:1811 → 2189
    Atrophin-1; Atrophin-1 family

  2. NM_001290226.2 → NP_001277155.1  microtubule-associated serine/threonine-protein kinase 4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter, differs in the 5' UTR, uses a downstream start codon, and has an alternate in-frame exon compared to variant 3. The encoded protein (isoform d) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AB002301, AC044799, AK299538
    UniProtKB/Swiss-Prot
    O15021
    UniProtKB/TrEMBL
    B4DS23
    Conserved Domains (4) summary
    smart00220
    Location:364 → 637
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:940 → 1018
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:363 → 642
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:49 → 325
    DUF1908; Domain of unknown function (DUF1908)

  3. NM_001290227.2 → NP_001277156.1  microtubule-associated serine/threonine-protein kinase 4 isoform e

    See identical proteins and their annotated locations for NP_001277156.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter, differs in the 5' UTR, uses a downstream start codon, and lacks an alternate in-frame exon compared to variant 3. The encoded protein (isoform e) has a shorter and distinct N-terminus compared to isoform c.
    Source sequence(s)
    AC044799, AK296707
    UniProtKB/TrEMBL
    B4DKT8
    Conserved Domains (4) summary
    smart00220
    Location:376 → 649
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:885 → 963
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:375 → 654
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:64 → 337
    DUF1908; Domain of unknown function (DUF1908)

  4. NM_001290228.2 → NP_001277157.1  microtubule-associated serine/threonine-protein kinase 4 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses a distinct 3' coding region and 3' UTR compared to variant 3. The encoded protein (isoform f) has a shorter and distinct C-terminus compared to isoform c.
    Source sequence(s)
    AC008872, AC092373, AY439222, BC033215, CB044105
    Consensus CDS
    CCDS78015.1
    UniProtKB/Swiss-Prot
    O15021
    UniProtKB/TrEMBL
    E7EX28, Q6T2V4
    Related
    ENSP00000384547.1, ENST00000406039.5

  5. NM_001297651.2 → NP_001284580.1  microtubule-associated serine/threonine-protein kinase 4 isoform g

    See identical proteins and their annotated locations for NP_001284580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate 5' exon, compared to variant 3. The encoded isoform (g) is shorter and has a distinct N-terminus, compared to isoform c.
    Source sequence(s)
    AC044799, AK057601, AK299706, AY830839, BF515864
    Consensus CDS
    CCDS75254.1
    UniProtKB/Swiss-Prot
    O15021
    UniProtKB/TrEMBL
    B4DSE5
    Related
    ENSP00000261569.7, ENST00000261569.11
    Conserved Domains (4) summary
    smart00220
    Location:376 → 649
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:952 → 1030
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:375 → 654
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:64 → 337
    DUF1908; Domain of unknown function (DUF1908)

  6. NM_015183.3 → NP_055998.1  microtubule-associated serine/threonine-protein kinase 4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR, uses a downstream start codon, and includes an alternate in-frame exon in the 5' coding region, compared to variant 3. The resulting isoform (a) has a shorter N-terminus and includes an additional segment near the N-terminus, compared to isoform c.
    Source sequence(s)
    AC016634, AC044799, AY830839
    Consensus CDS
    CCDS47225.1
    UniProtKB/Swiss-Prot
    O15021
    Related
    ENSP00000384313.1, ENST00000403666.5
    Conserved Domains (4) summary
    smart00220
    Location:381 → 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:957 → 1035
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:380 → 659
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:69 → 342
    DUF1908; Domain of unknown function (DUF1908)

  7. NM_198828.3 → NP_942123.1  microtubule-associated serine/threonine-protein kinase 4 isoform b

    See identical proteins and their annotated locations for NP_942123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a distinct 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (b) has a substantially shorter and distinct C-terminus, compared to isoform c.
    Source sequence(s)
    BC033215
    Consensus CDS
    CCDS47224.1
    UniProtKB/Swiss-Prot
    O15021
    Related
    ENSP00000385088.1, ENST00000406374.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    66596354..67169595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446044.1 → XP_024301812.1  microtubule-associated serine/threonine-protein kinase 4 isoform X1

    Conserved Domains (4) summary
    cd00992
    Location:1218 → 1296
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:641 → 920
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:330 → 603
    DUF1908; Domain of unknown function (DUF1908)
    cl26464
    Location:1883 → 2261
    Atrophin-1; Atrophin-1 family

  2. XM_017009452.1 → XP_016864941.1  microtubule-associated serine/threonine-protein kinase 4 isoform X10

  3. XM_017009450.1 → XP_016864939.1  microtubule-associated serine/threonine-protein kinase 4 isoform X5

  4. XM_017009451.1 → XP_016864940.1  microtubule-associated serine/threonine-protein kinase 4 isoform X9

  5. XM_011543385.3 → XP_011541687.1  microtubule-associated serine/threonine-protein kinase 4 isoform X6

    Conserved Domains (4) summary
    smart00220
    Location:361 → 634
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:937 → 1015
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:360 → 639
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:49 → 322
    DUF1908; Domain of unknown function (DUF1908)

  6. XM_017009449.1 → XP_016864938.1  microtubule-associated serine/threonine-protein kinase 4 isoform X2

    Related
    ENSP00000384099.1, ENST00000405643.5

  7. XM_006714606.3 → XP_006714669.1  microtubule-associated serine/threonine-protein kinase 4 isoform X3

    See identical proteins and their annotated locations for XP_006714669.1

    UniProtKB/Swiss-Prot
    O15021
    Conserved Domains (4) summary
    smart00220
    Location:376 → 649
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:952 → 1030
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:375 → 654
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:64 → 337
    DUF1908; Domain of unknown function (DUF1908)

  8. XM_006714610.2 → XP_006714673.1  microtubule-associated serine/threonine-protein kinase 4 isoform X8

    See identical proteins and their annotated locations for XP_006714673.1

    Conserved Domains (4) summary
    smart00220
    Location:376 → 649
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:885 → 963
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:375 → 654
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:64 → 337
    DUF1908; Domain of unknown function (DUF1908)

  9. XM_017009453.1 → XP_016864942.1  microtubule-associated serine/threonine-protein kinase 4 isoform X10

  10. XM_011543386.2 → XP_011541688.1  microtubule-associated serine/threonine-protein kinase 4 isoform X7

    Conserved Domains (4) summary
    smart00220
    Location:358 → 631
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:934 → 1012
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:357 → 636
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:46 → 319
    DUF1908; Domain of unknown function (DUF1908)

  11. XM_011543384.2 → XP_011541686.1  microtubule-associated serine/threonine-protein kinase 4 isoform X4

    Conserved Domains (4) summary
    smart00220
    Location:370 → 643
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd00992
    Location:946 → 1024
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd05609
    Location:369 → 648
    STKc_MAST; Catalytic domain of the Protein Serine/Threonine Kinase, Microtubule-associated serine/threonine kinase
    pfam08926
    Location:58 → 331
    DUF1908; Domain of unknown function (DUF1908)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15021.4 GenPept UniProtKB/Swiss-Prot:O15021

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