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    DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 [ Homo sapiens (human) ]

    Gene ID: 8798, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DYRK4provided by HGNC
    Official Full Name
    dual specificity tyrosine phosphorylation regulated kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:3095
    See related
    Ensembl:ENSG00000010219 MIM:609181; AllianceGenome:HGNC:3095
    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 an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
    Expression
    Broad expression in testis (RPKM 18.7), thyroid (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DYRK4 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4562208..4613875)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4568995..4620692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4671374..4723041)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FERRY endosomal RAB5 effector complex subunit 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4618390-4619024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647270-4647879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647880-4648488 Neighboring gene RAD51 associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 10040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5826 Neighboring gene coiled-coil domain containing 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5827 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:4739222-4740085 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742144-4742644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742645-4743145 Neighboring gene RAB5A, member RAS oncogene family pseudogene Neighboring gene A-kinase anchoring protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4758050-4758705 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9

    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. A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers. Liu CC, et al. Clin Cancer Res, 2021 Feb 1. PMID 33172895, Free PMC Article
    2. The expression of the testis-specific Dyrk4 kinase is highly restricted to step 8 spermatids but is not required for male fertility in mice. Sacher F, et al. Mol Cell Endocrinol, 2007 Mar 15. PMID 17292540
    3. Splice variants of the dual specificity tyrosine phosphorylation-regulated kinase 4 (DYRK4) differ in their subcellular localization and catalytic activity. Papadopoulos C, et al. J Biol Chem, 2011 Feb 18. PMID 21127067, Free PMC Article
    4. DYRK gene structure and erythroid-restricted features of DYRK3 gene expression. Zhang D, et al. Genomics, 2005 Jan. PMID 15607427
    5. Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases. Becker W, et al. J Biol Chem, 1998 Oct 2. PMID 9748265

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers.
      Title: A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers.
    2. DYRK4 isoforms resulting from alternative splicing differ in subcellular localization and catalytic activity
      Title: Splice variants of the dual specificity tyrosine phosphorylation-regulated kinase 4 (DYRK4) differ in their subcellular localization and catalytic activity.
    3. Dyrk4 is a testis-specific kinase with a very restricted expression to stage VIII postmeiotic spermatids.
      Title: The expression of the testis-specific Dyrk4 kinase is highly restricted to step 8 spermatids but is not required for male fertility in mice.
    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

    EBI GWAS Catalog

    Description
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS 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

    Potential readthrough

    Included gene: NDUFA9

    Homology

    Clone Names

    • FLJ18618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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/tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dual specificity tyrosine-phosphorylation-regulated kinase 4
    Names
    dual specificity tyrosine-(Y)-phosphorylation regulated kinase 4
    NP_001269214.1
    NP_001269215.1
    NP_001358230.1
    NP_001381708.1
    NP_001381709.1
    NP_001393948.1
    NP_003836.1

    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.

    mRNA and Protein(s)

    1. NM_001282285.3 → NP_001269214.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005832
      UniProtKB/TrEMBL
      D3JEN3
      Conserved Domains (1) summary
      cl21453
      Location:1 → 114
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001282286.2 → NP_001269215.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 3

      See identical proteins and their annotated locations for NP_001269215.1

      Status: REVIEWED

      Source sequence(s)
      AC005832
      UniProtKB/TrEMBL
      B4E1A4, D3JEN3
      Related
      ENST00000545571.5
      Conserved Domains (1) summary
      cl21453
      Location:1 → 114
      PKc_like; Protein Kinases, catalytic domain

    3. NM_001371301.2 → NP_001358230.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005832
      Conserved Domains (1) summary
      cd14225
      Location:175 → 515
      PKc_DYRK4; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 4

    4. NM_001394779.1 → NP_001381708.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005832
      Consensus CDS
      CCDS91641.1
      UniProtKB/TrEMBL
      A0A0A0MTH5
      Related
      ENSP00000439697.2, ENST00000543431.6
      Conserved Domains (1) summary
      cd14225
      Location:175 → 515
      PKc_DYRK4; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 4

    5. NM_001394780.1 → NP_001381709.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005832
      Conserved Domains (1) summary
      cd14225
      Location:169 → 509
      PKc_DYRK4; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 4

    6. NM_001407019.1 → NP_001393948.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005832
      UniProtKB/Swiss-Prot
      A8K8F7, Q8NEF2, Q92631, Q9NR20

    7. NM_003845.3 → NP_003836.1  dual specificity tyrosine-phosphorylation-regulated kinase 4 isoform 1

      See identical proteins and their annotated locations for NP_003836.1

      Status: REVIEWED

      Source sequence(s)
      AC005832
      Consensus CDS
      CCDS8530.1
      UniProtKB/Swiss-Prot
      A8K8F7, Q8NEF2, Q92631, Q9NR20
      Related
      ENSP00000441755.1, ENST00000540757.6
      Conserved Domains (1) summary
      cd14225
      Location:60 → 400
      PKc_DYRK4; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 4

    RNA

    1. NR_104115.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses alternate splice sites in three exons and contains a 3' terminal exon that extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005832, DB082653, GU139746
      Related
      ENST00000536157.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      4562208..4613875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      4568995..4620692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR20.2 GenPept UniProtKB/Swiss-Prot:Q9NR20

    Gene LinkOut

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