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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]
CDK5R1 (Cyclin Dependent Kinase 5 Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with CDK5R1 include Alzheimer Disease and Non-Syndromic Intellectual Disability. Among its related pathways are Allograft rejection and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is CDK5R2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IEA | -- |
GO:0003779 | actin binding | IEA | -- |
GO:0004672 | protein kinase activity | TAS | 7592934 |
GO:0005509 | calcium ion binding | ISS,IEA | -- |
GO:0005515 | protein binding | IPI | 8090221 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | TAS | 7592934 |
GO:0000226 | microtubule cytoskeleton organization | TAS | 17491008 |
GO:0001764 | neuron migration | IEA,ISS | -- |
GO:0007158 | neuron cell-cell adhesion | ISS,IEA | -- |
GO:0007213 | G protein-coupled acetylcholine receptor signaling pathway | IEA,ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
AT7519 | Multi-CDK inhibitor | 844442-38-2 |
Kenpaullone | 142273-20-9 | |
ML167 | Clk4 inhibitor,highly selective | 1285702-20-6 |
Nu 6027 | ATR/CDK inhibitor, potent and selective | 220036-08-8 |
PHA-848125 | CDK inhibitor,potent and ATP-competitive | 802539-81-7 |
Purvalanol B | CDK1/CDK2/CDK4 inhibitor | 212844-54-7 |
R547 | CDK1/2/4 inhibitor,ATP-competitive | 741713-40-6 |
Ro 3306 | An ATP-competitive, potent CDK1 inhibitor | 872573-93-8 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CDK5R1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CDK5R1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CDK5R1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Cdk5r1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cdk5r1 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | CDK5R1 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CDK5R1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cdk5r1 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | cdk5r1-A-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cdk5r1b 33 32 |
|
OneToMany | |
cdk5r1a 33 |
|
OneToMany | |||
CDK5R1 (1 of 3) 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Cdk5alpha 33 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | T23F11.3 34 |
|
|
|
cdka-1 33 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000018686 | -- | 32,487,002(+) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000115964 | -- | 32,489,966(+) | A/T | 3_prime_UTR_variant | |
rs1000577801 | -- | 32,483,256(+) | T/A | upstream_transcript_variant | |
rs1001557776 | -- | 32,485,990(+) | C/G | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
rs1001899426 | -- | 32,491,718(+) | A/G | downstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5524n54 | CNV | gain | 21841781 |
dgv5525n54 | CNV | gain+loss | 21841781 |
dgv5526n54 | CNV | loss | 21841781 |
esv21464 | CNV | loss | 19812545 |
nsv1070399 | CNV | deletion | 25765185 |
nsv1121934 | CNV | deletion | 24896259 |
nsv519839 | CNV | loss | 19592680 |
nsv574697 | CNV | loss | 21841781 |
nsv574698 | CNV | gain | 21841781 |
nsv574706 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease |
|
|
non-syndromic intellectual disability |
|
|
crest syndrome |
|
|