CLK1
Description
The CLK1 (CDC like kinase 1) is a protein-coding gene located on chromosome 2.
CLK1 is a human gene that encodes a dual specificity protein kinase belonging to the CDC2-like (or LAMMER) family. This kinase resides in the cell nucleus and is responsible for phosphorylating serine/arginine-rich (SR) proteins involved in pre-mRNA processing. This phosphorylation leads to the release of SR proteins into the nucleoplasm. The choice of splice sites during pre-mRNA processing can be influenced by the concentration of transacting factors, including SR proteins, suggesting an indirect role for CLK1 in governing splice site selection. CLK1 has been shown to interact with ASF/SF2.
CLK1 is a dual specificity kinase that phosphorylates serine/threonine and tyrosine residues. It plays a key role in RNA splicing by phosphorylating serine- and arginine-rich (SR) proteins within the spliceosomal complex. This phosphorylation regulates the activity of SR proteins, allowing them to control the selection of splice sites during pre-mRNA processing. CLK1 has been shown to phosphorylate specific SR proteins, including SRSF1, SRSF3, and PTPN1. Additionally, CLK1 regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells.
CLK1 is also known as CLK, CLK/STY, STY.
Associated Diseases
- cancer
- aceruloplasminemia
- episodic ataxia type 1
- retinitis pigmentosa and erythrocytic microcytosis
- pseudohypoparathyroidism type 2
- immunodeficiency 18
- familial pseudohyperkalemia
- saccharopinuria
- dystonia 5
- severe combined immunodeficiency due to CTPS1 deficiency
- 22q11.2 deletion syndrome
- purine nucleoside phosphorylase deficiency
- immunodeficiency 105
- immunodeficiency 72 with autoinflammation
- vitamin B12-unresponsive methylmalonic acidemia type mut0
