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    DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A [ Homo sapiens (human) ]

    Gene ID: 1859, updated on 8-Oct-2017
    Official Symbol
    DYRK1Aprovided by HGNC
    Official Full Name
    dual specificity tyrosine phosphorylation regulated kinase 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:3091
    See related
    Ensembl:ENSG00000157540 MIM:600855; Vega:OTTHUMG00000086657
    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
    MNB; DYRK; HP86; MNBH; MRD7; DYRK1
    Summary
    This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    21q22.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (37365790..37515376)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38739859..38887679)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9 (non-protein coding) Neighboring gene DSCR3 arrestin fold containing Neighboring gene uncharacterized LOC105372797 Neighboring gene uncharacterized LOC105372798 Neighboring gene potassium voltage-gated channel subfamily J member 6 Neighboring gene uncharacterized LOC107985507

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • G0 and Early G1, organism-specific biosystem (from REACTOME)
      G0 and Early G1, organism-specific biosystemIn G0 and early G1 in quiescent cells, p130 (RBL2) bound to E2F4 or E2F5 and either DP1 or DP2, associates with the MuvB complex, forming an evolutionarily conserved DREAM complex, that represses tra...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystem (from WikiPathways)
      T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystemThe activation and translocation of transcription factors NFAT, AP-1 and NF-kappa-B via the co-stimulatory signaling cascade triggered by MHC peptide, B7 proteins and PD-L1. The activation of NFAT in...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    non-membrane spanning protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
     
    protein self-association ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein serine/threonine/tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tau protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-threonine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of alternative mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    intracellular ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    dual specificity tyrosine-phosphorylation-regulated kinase 1A
    Names
    MNB/DYRK protein kinase
    dual specificity YAK1-related kinase
    dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
    mnb protein kinase homolog hp86
    protein kinase minibrain homolog
    serine/threonine kinase MNB
    serine/threonine-specific protein kinase
    NP_001387.2
    NP_567824.1
    NP_569120.1
    NP_569122.1
    XP_005260990.1
    XP_006724039.1
    XP_006724040.1
    XP_006724041.1
    XP_006724042.1
    XP_011527784.1
    XP_011527785.1
    XP_011527786.1
    XP_011527787.1
    XP_016883773.1
    XP_016883774.1
    XP_016883775.1

    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_009366.1 RefSeqGene

      Range
      57744..152821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001347721.1NP_001334650.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001428, AP001437, KF457264
      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    2. NM_001347722.1NP_001334651.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001428, AP001437, KF457264
      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    3. NM_001347723.1NP_001334652.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001437, KF457264
      Conserved Domains (1) summary
      cd14226
      Location:110446
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    4. NM_001396.4NP_001387.2  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1

      See identical proteins and their annotated locations for NP_001387.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP001413, AP001421, AP001428, AP001437, KF457264
      Consensus CDS
      CCDS42925.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000381932.2, OTTHUMP00000109094, ENST00000398960.6, OTTHUMT00000194804
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    5. NM_101395.2NP_567824.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3

      See identical proteins and their annotated locations for NP_567824.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is alternatively spliced in the 5' UTR and in the 3' coding region, as compared to variant 1. It encodes a 179 aa shorter isoform which lacks the poly-His domain and has a different C-terminus, compared to isoform 1.
      Source sequence(s)
      AF108830, AP001421
      Consensus CDS
      CCDS42926.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000342690.3, OTTHUMP00000109090, ENST00000338785.7, OTTHUMT00000194799
      Conserved Domains (2) summary
      smart00220
      Location:159479
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    6. NM_130436.2NP_569120.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

      See identical proteins and their annotated locations for NP_569120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is alternatively spliced in the 5' UTR and in an internal region of the coding sequence, as compared to variant 1. It encodes a 9 aa shorter isoform which has identical N- and C-termini to those of isoform 1.
      Source sequence(s)
      AP001421, AP001428, D86550
      Consensus CDS
      CCDS13653.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000340373.3, OTTHUMP00000109091, ENST00000339659.8, OTTHUMT00000194801
      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    7. NM_130438.2NP_569122.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5

      See identical proteins and their annotated locations for NP_569122.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a 3' coding exon, as compared to variant 1. It encodes a 234 aa shorter isoform which lacks the poly-His domain and has a different C-terminus, compared to isoform 1.
      Source sequence(s)
      AF108830, AP001421
      Consensus CDS
      CCDS13654.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000381929.2, OTTHUMP00000174799, ENST00000398956.2, OTTHUMT00000268824
      Conserved Domains (2) summary
      smart00220
      Location:159479
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      37365790..37515376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723977.3XP_006724040.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2

      See identical proteins and their annotated locations for XP_006724040.1

      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    2. XM_017028285.1XP_016883774.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4

      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    3. XM_006723978.3XP_006724041.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2

      See identical proteins and their annotated locations for XP_006724041.1

      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    4. XM_011529485.2XP_011527787.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X6

      Conserved Domains (1) summary
      cd14226
      Location:110446
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    5. XM_006723979.3XP_006724042.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4

      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    6. XM_011529483.2XP_011527785.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2

      See identical proteins and their annotated locations for XP_011527785.1

      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    7. XM_006723976.3XP_006724039.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2

      See identical proteins and their annotated locations for XP_006724039.1

      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    8. XM_017028284.1XP_016883773.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4

      UniProtKB/Swiss-Prot
      Q13627
      Conserved Domains (1) summary
      cd14226
      Location:139475
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    9. XM_017028286.1XP_016883775.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X5

      Conserved Domains (2) summary
      smart00220
      Location:130450
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:119455
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    10. XM_011529482.2XP_011527784.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1

      Conserved Domains (2) summary
      smart00220
      Location:166486
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:155491
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    11. XM_011529484.2XP_011527786.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X3

      Conserved Domains (2) summary
      smart00220
      Location:157477
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:146482
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
    12. XM_005260933.4XP_005260990.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X7

      See identical proteins and their annotated locations for XP_005260990.1

      Conserved Domains (2) summary
      smart00220
      Location:3251
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14226
      Location:1256
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      38301002..38448854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_130437.2: Suppressed sequence

      Description
      NM_130437.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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