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

Gene ID: 1859, updated on 11-Apr-2024

Summary

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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
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Genomic context

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See DYRK1A in Genome Data Viewer
Location:
21q22.13
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37365573..37526358)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35747888..35908739)
105.20220307 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

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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. Function and inhibition of DYRK1A: Emerging roles of treating multiple human diseases. Yang Y, et al. Biochem Pharmacol, 2023 Jun. PMID 36990324
  2. The Conserved Transcriptional Activation Activity Identified in Dual-Specificity Tyrosine-(Y)-Phosphorylation-Regulated Kinase 1. Ouyang X, et al. Biomolecules, 2023 Feb 2. PMID 36830653, Free PMC Article
  3. The Omnipresence of DYRK1A in Human Diseases. Deboever E, et al. Int J Mol Sci, 2022 Aug 19. PMID 36012629, Free PMC Article
  4. Relieving DYRK1A repression of MKL1 confers an adult-like phenotype to human infantile megakaryocytes. Elagib KE, et al. J Clin Invest, 2022 Oct 3. PMID 35925681, Free PMC Article
  5. The chromosome 21 kinase DYRK1A: emerging roles in cancer biology and potential as a therapeutic target. Rammohan M, et al. Oncogene, 2022 Apr. PMID 35220406, Free PMC Article

See all (261) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA-221-3p inhibits the inflammatory response of keratinocytes by regulating the DYRK1A/STAT3 signaling pathway to promote wound healing in diabetes.
    Title: MicroRNA-221-3p inhibits the inflammatory response of keratinocytes by regulating the DYRK1A/STAT3 signaling pathway to promote wound healing in diabetes.
  2. Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders.
    Title: Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders.
  3. DYRK1A gene linked to heart defects in Down syndrome.
    Title: DYRK1A gene linked to heart defects in Down syndrome.
  4. Loss of the DYRK1A Protein Kinase Results in the Reduction in Ribosomal Protein Gene Expression, Ribosome Mass and Reduced Translation.
    Title: Loss of the DYRK1A Protein Kinase Results in the Reduction in Ribosomal Protein Gene Expression, Ribosome Mass and Reduced Translation.
  5. DYRK1A is a multifunctional host factor that regulates coronavirus replication in a kinase-independent manner.
    Title: DYRK1A is a multifunctional host factor that regulates coronavirus replication in a kinase-independent manner.
  6. Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.
    Title: Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.
  7. Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
    Title: Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
  8. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
    Title: Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
  9. Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
    Title: Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
  10. A genome-wide screen reveals that Dyrk1A kinase promotes nucleotide excision repair by preventing aberrant overexpression of cyclin D1 and p21.
    Title: A genome-wide screen reveals that Dyrk1A kinase promotes nucleotide excision repair by preventing aberrant overexpression of cyclin D1 and p21.
Submit: New GeneRIF Correction See all GeneRIFs (164)

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

Associated conditions

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 histone H3T45 kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
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
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
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 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
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
  
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

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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)

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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_009366.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001347721.2 → NP_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:139 → 475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  2. NM_001347722.2 → NP_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:139 → 475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  3. NM_001347723.2 → NP_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:110 → 446
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  4. NM_001396.5 → NP_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:148 → 484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  5. NM_101395.2 → NP_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:159 → 479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14226
    Location:148 → 484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  6. NM_130436.2 → NP_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:139 → 475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

  7. NM_130438.2 → NP_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:148 → 484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13627.2 GenPept UniProtKB/Swiss-Prot:Q13627

Gene LinkOut

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