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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CDK5R1
cyclin dependent kinase 5 regulatory subunit 1
Chromosome 17 · 17q11.2
NCBI Gene: 8851Ensembl: ENSG00000176749.10HGNC: HGNC:1775UniProt: Q15078
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein serine/threonine kinase activator activitypeptidyl-serine phosphorylationpeptidyl-threonine phosphorylationprotein kinase bindingAlzheimer diseaseneurodegenerative diseaseschizophrenianeoplasm
✦AI Summary

CDK5R1 encodes p35, a neuron-specific activator of cyclin-dependent kinase 5 (CDK5) essential for central nervous system development. p35/CDK5 complexes regulate neurite outgrowth, cortical lamination, and dendritic spine morphogenesis through EFNA1-EPHA4 signaling 1. The complex also modulates circadian clock function by phosphorylating CLOCK protein and regulating CLOCK-BMAL1 transcriptional activity. CDK5R1 expression is tightly controlled at transcriptional and post-transcriptional levels, with microRNAs miR-103 and miR-107 directly targeting the CDK5R1 3'-UTR to regulate p35 levels and neuronal migration 2. In disease contexts, CDK5R1 dysregulation associates with Alzheimer's disease pathology; epistatic interactions between CDK5R1 and GSK-3beta polymorphisms influence AD susceptibility through tau phosphorylation regulation 3. CDK5R1 downregulation characterizes AD pathogenesis with identified disease subtypes 4, while tau-related neurodegeneration involves altered CDK5R1 expression and lipid dyshomeostasis 5. Conversely, CDK5R1 upregulation promotes oncogenesis; elevated expression correlates with poor prognosis and chemotherapy resistance in colorectal, breast, and hepatocellular cancers 67, with the miR-152-CDK5R1 axis driving Ewing's sarcoma proliferation through CDK5-mediated retinoblastoma phosphorylation 8.

Sources cited
1
CDK5R1 encodes neuron-specific CDK5 activator involved in neuronal migration during CNS development
PMID: 16425041
2
miR-103 and miR-107 directly regulate CDK5R1 expression through 3'-UTR targeting and affect neuronal migration
PMID: 21625387
3
CDK5R1 and GSK-3beta polymorphisms show epistatic interaction influencing AD risk through tau phosphorylation
PMID: 19154537
4
CDK5R1 is downregulated in Alzheimer's disease with identified disease subtypes based on CDK5R1 expression
PMID: 36561735
5
CDK5R1 expression alters with lipid dyshomeostasis and tau pathology in FTLD and Alzheimer's disease
PMID: 40204713
6
CDK5R1 is upregulated in 12 common cancers and acts as oncogene associated with poor prognosis and drug resistance
PMID: 36162454
7
Elevated CDK5R1 independently predicts poor overall survival and disease progression in hepatocellular carcinoma
PMID: 33346796
8
miR-152-CDK5R1 axis drives Ewing's sarcoma proliferation through CDK5-mediated retinoblastoma phosphorylation
PMID: 37899376
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.61Moderate
neurodegenerative diseaseOpen Targets
0.40Weak
schizophreniaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
lung cancerOpen Targets
0.10Weak
prostate cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
severe malarial anemiaOpen Targets
0.08Suggestive
Pituitary Gland AdenomaOpen Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.06Suggestive
Chudley-McCullough syndromeOpen Targets
0.06Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
Polymicrogyria due to TUBB2B mutationOpen Targets
0.06Suggestive
unilateral hemispheric polymicrogyriaOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
lissencephaly 4Open Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
Inguinal herniaOpen Targets
0.05Suggestive
lissencephaly due to TUBA1A mutationOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXO3Protein interaction100%CDK2Protein interaction99%JUNProtein interaction99%TP53Protein interaction97%MAPTProtein interaction97%CDC25AProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
18%
Ovary
2%
Heart
2%
Liver
2%
Lung
1%
Gene Interaction Network
Click a node to explore
CDK5R1FOXO3CDK2JUNTP53MAPTCDC25A
PROTEIN STRUCTURE
Preparing viewer…
PDB3O0G · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.23]
RankingsWhere CDK5R1 stands among ~20K protein-coding genes
  • #3,682of 20,598
    Most Researched127 · top quartile
  • #658of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedCDK5R1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau.
PMID: 40204713
Nat Commun · 2025
1.00
2
Elevated CDK5R1 expression associated with poor prognosis, proliferation, and drug resistance in colorectal and breast malignancies: CDK5R1 as an oncogene in cancers.
PMID: 36162454
Chem Biol Interact · 2022
0.90
3
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
PMID: 16425041
Neurogenetics · 2006
0.80
4
The role of miR-103 and miR-107 in regulation of CDK5R1 expression and in cellular migration.
PMID: 21625387
PLoS One · 2011
0.70
5
Elevated CDK5R1 predicts worse prognosis in hepatocellular carcinoma based on TCGA data.
PMID: 33346796
Biosci Rep · 2021
0.60