DYRK1B


Description

The DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) is a protein-coding gene located on chromosome 19.

DYRK1B is an enzyme that in humans is encoded by the DYRK1B gene. It belongs to the DYRK family of protein kinases and contains a bipartite nuclear localization signal. DYRK1B is primarily found in muscle and testis, suggesting a role in regulating nuclear functions. Three isoforms of DYRK1B have been identified, differing in the presence of two alternatively spliced exons within the catalytic domain. DYRK1B interacts with PCBD1 and RANBP9. A missense mutation in the DYRK1B gene (R102C) has been linked to an autosomal dominant early onset Coronary Artery Disease, juvenile-onset truncal obesity, severe hypertension, and type II diabetes mellitus, observed in subjects from a nomadic group in Iran.

DYRK1B is a dual-specificity kinase with both serine/threonine and tyrosine kinase activities. It plays a crucial role in repairing double-strand breaks in ribosomal DNA (rDNA) and maintaining the copy number of rDNA. During DNA damage, DYRK1B mediates transcriptional silencing by phosphorylating and accumulating the histone methyltransferase EHMT2 at DNA double-strand breaks. It enhances the transcriptional activity of TCF1/HNF1A and FOXO1, inhibits epithelial cell migration, and promotes colon carcinoma cell survival in environments lacking growth factors. DYRK1B inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis, and promotes the expression of the gluconeogenic enzyme glucose-6-phosphatase catalytic subunit 1 (G6PC1).

DYRK1B is also known as AOMS3, MIRK.

Associated Diseases



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