重组人DYRK1A蛋白(ab114522)

May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates.

Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney.

Defects in DYRK1A are the cause of mental retardation autosomal dominant type 7 (MRD7) [MIM:614104]. A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
Contains 1 protein kinase domain.

Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndrome brain.

The polyhistidine repeats act as targeting signals to nuclear speckles (PubMed:19266028).

Autophosphorylated on tyrosine residues.

Nucleus speckle.