Disease-gene associations mined from literature

Literature associating DYRK1A and Down syndrome

DYRK1A [ENSP00000381932]

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. 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). Exhibits a substrate preference for proline at position P+1 and arginine at position P- 3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).

Synonyms:  DYRK1A,  DYRK1Ap,  hDYRK1A,  DYRK1A_VAR1,  E7EMI5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM