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

    Gene ID: 1859, updated on 2-Nov-2024

    Summary

    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; AllianceGenome:HGNC:3091
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 9.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DYRK1A in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37365573..37526358)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35747888..35908739)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38737875..38898660)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905018 Neighboring gene uncharacterized LOC124905019 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38737611-38738536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13302 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38739461-38740385 Neighboring gene VISTA enhancer hs2333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38823452-38824003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829141-38829654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829655-38830166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13307 Neighboring gene uncharacterized LOC105372797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38856065-38856652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18453 Neighboring gene KCNJ6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38919349-38919849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38918848-38919348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18455 Neighboring gene uncharacterized LOC105372798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13308 Neighboring gene Sharpr-MPRA regulatory region 302 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38960011-38960798 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:38964609-38965446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38965447-38966286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39020347-39020847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39039721-39040443 Neighboring gene potassium inwardly rectifying channel subfamily J member 6 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39040444-39041167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39047357-39048256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39054697-39055209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13309 Neighboring gene uncharacterized LOC101928368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39127657-39128504

    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?

    Phenotypes

    Associated conditions

    Description Tests
    DYRK1A-related intellectual disability syndrome
    MedGen: C5568143 OMIM: 614104 GeneReviews: DYRK1A Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    EBI GWAS Catalog
    Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone H3T45 kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein serine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein serine/threonine/tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables tau protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables tau protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables tau-protein kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of DNA methylation-dependent heterochromatin formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-serine autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-threonine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in peptidyl-tyrosine autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with actin filament IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with microtubule IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    colocalizes_with neurofilament IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear speck TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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_001334650.1
    NP_001334651.1
    NP_001334652.1
    NP_001387.2
    NP_567824.1
    NP_569120.1
    NP_569122.1

    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_009366.2 RefSeqGene

      Range
      6202..165787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001428, AP001437, KF457264, KF511415
      Consensus CDS
      CCDS13653.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000494572.1, ENST00000647188.2
      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_001347722.2NP_001334651.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001428, AP001437, KF457264, KF511415
      Consensus CDS
      CCDS13653.1
      UniProtKB/Swiss-Prot
      Q13627
      Related
      ENSP00000496748.1, ENST00000647425.1
      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_001347723.2NP_001334652.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001413, AP001421, AP001437, KF457264, KF511415
      Consensus CDS
      CCDS86987.1
      UniProtKB/TrEMBL
      A0A2R8Y6I6
      Related
      ENSP00000495571.1, ENST00000647504.1
      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_001396.5NP_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, KF511415
      Consensus CDS
      CCDS42925.1
      UniProtKB/Swiss-Prot
      O60769, Q13627, Q92582, Q92810, Q9UNM5
      Related
      ENSP00000381932.2, ENST00000398960.7
      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/TrEMBL
      A0A2R8Y6L5
      Related
      ENSP00000342690.3, ENST00000338785.8
      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
      ENSP00000495908.1, ENST00000646548.1
      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/TrEMBL
      A0A2R8YDF3
      Related
      ENSP00000381929.2, ENST00000398956.2
      Conserved Domains (1) summary
      cd14226
      Location:148484
      PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      37365573..37526358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      35747888..35908739
      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.