CDK5R1 (NM_003885) - cyclin dependent kinase 5 regulatory subunit 1

Cyclin-Dependent Kinase 5 Activator 1

Mutations Visualisation

Protein summary

This is preferred isoform of CDK5R1 protein.
CDK5R1: cyclin-dependent kinase 5 activator 1
Description:

The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: BC030792.1, SRR1660805.215685.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145774, SAMEA2148874 [ECO:0000348]

Strand
+
Chromosome
17
Protein
307 residues
All mutations
24
PTM sites
3
CDS
30,814,638 - 30,815,562
Transcription
30,814,104 - 30,818,271
37.79% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 8851
Uniprot
Ensembl