DYRK1A

Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the DYRK1A gene.^[5] Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region.^[6] These variants encode for at least five different isoforms.^[7]

DYRK1A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VX3, 2WO6, 3ANQ, 3ANR, 4AZE, 4MQ1, 4MQ2, 4NCT, 4YLJ, 4YLK, 4YLL, 4YU2, 5AIK, 5A4Q, 5A4E, 5A3X, 5A4T, 5A54, 5A4L
Identifiers
Aliases	DYRK1A, DYRK, DYRK1, HP86, MNB, MNBH, MRD7, dual specificity tyrosine phosphorylation regulated kinase 1A
External IDs	OMIM: 600855; MGI: 1330299; HomoloGene: 55576; GeneCards: DYRK1A; OMA:DYRK1A - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.13 Start 37,365,573 bp[1] End 37,526,358 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 C4|16 55.3 cM Start 94,370,869 bp[2] End 94,496,376 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid biceps brachii Brodmann area 23 Skeletal muscle tissue of biceps brachii bronchial epithelial cell tibialis anterior muscle middle temporal gyrus germinal epithelium visceral pleura trabecular bone Top expressed in zygote cardiac muscle tissue of left ventricle muscle of thigh Gonadal ridge secondary oocyte tail of embryo genital tubercle extensor digitorum longus muscle triceps surae gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding non-membrane spanning protein tyrosine kinase activity kinase activity protein self-association protein serine/threonine kinase activity protein binding protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity tau protein binding ATP binding identical protein binding tau-protein kinase activity Cellular component nuclear speck nucleoplasm nucleus cytoplasm cytoskeleton axon dendrite ribonucleoprotein complex Biological process positive regulation of protein deacetylation phosphorylation regulation of alternative mRNA splicing, via spliceosome nervous system development protein phosphorylation negative regulation of mRNA splicing, via spliceosome negative regulation of DNA damage response, signal transduction by p53 class mediator peptidyl-serine phosphorylation circadian rhythm protein autophosphorylation peptidyl-tyrosine phosphorylation peptidyl-threonine phosphorylation viral process negative regulation of microtubule polymerization positive regulation of RNA splicing amyloid-beta formation peptidyl-serine autophosphorylation peptidyl-tyrosine autophosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1859 13548 Ensembl ENSG00000157540 ENSMUSG00000022897 UniProt Q13627 Q61214 RefSeq (mRNA) NM_001396 NM_101395 NM_130436 NM_130437 NM_130438 NM_001347721 NM_001347722 NM_001347723 NM_001113389 NM_007890 NM_001347731 RefSeq (protein) NP_001334650 NP_001334651 NP_001334652 NP_001387 NP_567824 NP_569120 NP_569122 NP_001106860 NP_001334660 NP_031916 NP_001389720 NP_001389721 NP_001389722 Location (UCSC) Chr 21: 37.37 – 37.53 Mb Chr 16: 94.37 – 94.5 Mb PubMed search [3] [4]
Wikidata
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Function

See also: Dual-specificity kinase

DYRK1A is 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 the Drosophila mnb (minibrain) gene.^[7]

DYRK1A has also been shown to modulate plasma homocysteine levels in a mouse model of overexpression.^[8]

Clinical significance

DYRK1A 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.^[7] In addition, a polymorphism (SNP) in DYRK1A was found to be associated with HIV-1 replication in monocyte-derived macrophages, as well as with slower progression to AIDS in two independent cohorts of HIV-1-infected individuals.^[6] Mutations in DYRK1A are also associated with autism spectrum disorder.^[9]

Interactions

DYRK1A has been shown to interact with WDR68.^[10]

In popular culture

Rosie, the protagonist of BBC sitcom There She Goes, has the DYRK1A gene, as revealed in the show's final episode.^[11]

See also

• DYRK1B
• DYRK2
• DYRK3