Aliases for DYRK1A Gene
External Ids for DYRK1A Gene
Previous HGNC Symbols for DYRK1A Gene
Previous GeneCards Identifiers for DYRK1A Gene
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]
GeneCards Summary for DYRK1A Gene
DYRK1A (Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A) is a Protein Coding gene. Diseases associated with DYRK1A include mental retardation, autosomal dominant 7 and down syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein serine/threonine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is DYRK1B.
UniProtKB/Swiss-Prot for DYRK1A Gene
May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates such as CRY2, FOXO1, SRSF6 and SIRT1. Exhibits a sugstrate preference for proline at position P+1 and arginine at position P-3.
Dual-specificity tyrosine phosphorylation-regulated kinases (DYRKs)are conserved serine/threonine kinases. DYRKs have been implicated in cell survival, proliferation and differentiation, and in the pathology of Down Syndrome andAlzheimer's disease.