Dyrk (Downs Syndrome Critical Region) (DYRK1A) Antibody – Sheep Polyclonal

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]

Function: 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 such as CRY2, FOXO1 and SIRT1. Ref.3

Catalytic activity: ATP + a protein = ADP + a phosphoprotein.

Enzyme regulation: Inhibited by RANBP9. Ref.7

Subunit structure: Interacts RAD54L2/ARIP4. Interacts with CRY2

By similarity. Interacts with RANBP9. Interacts with WDR68. Ref.7 Ref.8

Subcellular location: Nucleus speckle.

Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. Ref.1 Ref.2 Ref.3 Ref.5

Developmental stage: Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndrome brain. Ref.3

Domain: The polyhistidine repeats act as targeting signals to nuclear speckles (Ref.11).

Post-translational modification: Autophosphorylated on tyrosine residues.

Involvement in disease: Mental retardation, autosomal dominant 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

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