DYRK1A
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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][10]
Interactions
In popular culture
Rosie, the learning-disabled protagonist of BBC sitcom There She Goes, has DYRK1A syndrome, as revealed in the show's final episode.[12]