CDK5R1

Description

The CDK5R1 (cyclin dependent kinase 5 regulatory subunit 1) is a protein-coding gene located on chromosome 17.

CDK5R1, or Cyclin-dependent kinase 5 activator 1, is a human gene that encodes an enzyme crucial for the proper development of the central nervous system. The protein product, p35, is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5). P35 is proteolytically cleaved by calpain, generating a p25 form. This cleavage results in the relocation of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by extending its activation and altering its cellular location. P25 accumulates in the brain neurons of Alzheimer's disease patients, contributing to the disease by increasing CDK5 kinase activity and leading to aberrantly phosphorylated forms of the microtubule-associated protein tau. In melanocytic cells, CDK5R1 gene expression is regulated by MITF. CDK5R1 interacts with various proteins, including Actinin, alpha 1, Amphiphysin, Beta-catenin, CAMK2A, CDK5RAP2, Cyclin-dependent kinase 5, and Protein SET.

CDK5R1, also known as p35, is a neuron-specific activator of CDK5. The p35/CDK5 complex is essential for neurite outgrowth and cortical lamination. It plays a role in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling pathway. CDK5R1 activates TPKII and is involved in regulating the circadian clock by modulating CLOCK protein function. The p35/CDK5 complex phosphorylates CLOCK at Thr-451 and Thr-461, regulating the transcriptional activity of the CLOCK-BMAL1 heterodimer. This regulation is associated with changes in CLOCK protein stability and subcellular localization.

CDK5R1 is also known as CDK5P35, CDK5R, NCK5A, p23, p25, p35, p35nck5a.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing