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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)
End	37,526,358 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	94,496,376 bp
RNA expression pattern
	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
	; ; ; ;
	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
	1859
	13548
	ENSG00000157540
	ENSMUSG00000022897
	Q13627
	Q61214
NM_001396; NM_101395; NM_130436; NM_130437; NM_130438;
	NM_001347721; NM_001347722; NM_001347723
	NM_001113389; NM_007890; NM_001347731
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
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Function

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157540 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022897 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Guimera J, Pritchard M, Nadal M, Estivill X (Sep 1997). "Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2". Cytogenet Cell Genet. 77 (3–4): 182–4. doi:10.1159/000134571. PMID 9284911.
^ ^a ^b Bol SM, Moerland PD, Limou S, van Remmerden Y, Coulonges C, van Manen D, Herbeck JT, Fellay J, Sieberer M, Sietzema JG, van 't Slot R, Martinson J, Zagury JF, Schuitemaker H, van 't Wout AB (2011). "Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages". PLOS ONE. 6 (2): e17190. Bibcode:2011PLoSO...617190B. doi:10.1371/journal.pone.0017190. PMC 3045405. PMID 21364930.
^ ^a ^b ^c "Entrez Gene: DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A".
^ Noll C, Planque C, Ripoll C, Guedj F, Diez A, Ducros V, Belin N, Duchon A, Paul JL, Badel A, de Freminville B, Grattau Y, Bléhaut H, Herault Y, Janel N, Delabar JM (2009). "DYRK1A, a novel determinant of the methionine-homocysteine cycle in different mouse models overexpressing this Down-syndrome-associated kinase". PLOS ONE. 4 (10): e7540. Bibcode:2009PLoSO...4.7540N. doi:10.1371/journal.pone.0007540. PMC 2760102. PMID 19844572.
^ O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J (December 2012). "Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders". Science. 338 (6114): 1619–22. Bibcode:2012Sci...338.1619O. doi:10.1126/science.1227764. PMC 3528801. PMID 23160955.
^ Skurat AV, Dietrich AD (January 2004). "Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases". J. Biol. Chem. 279 (4): 2490–8. doi:10.1074/jbc.M301769200. PMID 14593110.
^ "There She Goes creator explains family cameo in special episode". Radio Times. 21 June 2023. Retrieved 6 July 2023.

External links

Overview of all the structural information available in the PDB for UniProt: Q13627 (Dual specificity tyrosine-phosphorylation-regulated kinase 1A) at the PDBe-KB.