DYRK1A

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DYRK1A
Protein DYRK1A PDB 2VX3.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDYRK1A, DYRK, DYRK1, HP86, MNB, MNBH, MRD7, dual specificity tyrosine phosphorylation regulated kinase 1A
External IDsOMIM: 600855 MGI: 1330299 HomoloGene: 55576 GeneCards: DYRK1A
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for DYRK1A
Genomic location for DYRK1A
Band21q22.13Start37,365,573 bp[1]
End37,526,358 bp[1]
RNA expression pattern
PBB GE DYRK1A 211541 s at fs.png

PBB GE DYRK1A 209033 s at fs.png

PBB GE DYRK1A 211079 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001113389
NM_007890
NM_001347731

RefSeq (protein)

NP_001106860
NP_001334660
NP_031916

Location (UCSC)Chr 21: 37.37 – 37.53 MbChr 16: 94.57 – 94.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 at least five different isoforms.[7]

Function[edit]

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 Drosophila mnb (minibrain) gene and rat Dyrk gene.[7]

Dyrk1a has also been shown to modulate plasma homocysteine level in a mouse model of overexpression.[8]

Clinical significance[edit]

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[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157540 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022897 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b c "Entrez Gene: DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A".
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.

Further reading[edit]

External links[edit]

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