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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDK5RAP3
CDK5 regulatory subunit associated protein 3
Chromosome 17 · 17q21.32
NCBI Gene: 80279Ensembl: ENSG00000108465.16HGNC: HGNC:18673UniProt: Q96JB5
128PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of signal transduction by p53 class mediatornucleolusprotein ufmylationmicrotubuleneurodegenerative diseasegeneralised epilepsyobesityhair color
✦AI Summary

CDK5RAP3 (CDK5 regulatory subunit associated protein 3) is a multifunctional protein with emerging roles in cellular homeostasis, viral defense, and tumor suppression. Primary function: CDK5RAP3 acts as a key co-factor in the UFMylation (ubiquitin-fold modifier) system, regulating protein stability and cellular quality control 1. It also functions as a cargo receptor in selective autophagy, containing LC3-interacting regions (LIRs) for binding to autophagy machinery 2. Mechanism: CDK5RAP3 maintains stability of key proteins including transcription factors like MEIS2 and regulates ribosome dissociation through RPL26 UFMylation 3. It negatively regulates endoplasmic reticulum-associated phagy (ER-phagy) through the UFMylation system 4 and participates in reticulophagy-mediated antiviral defense against viral infections 5. Disease relevance: Elevated CDK5RAP3 expression correlates with poor prognosis in neuroblastoma, where it promotes tumor cell growth 4. Conversely, CDK5RAP3 acts as a tumor suppressor in gastric cancer, negatively regulating cancer stem cell self-renewal and EMT through ERK/NF-κB pathway inhibition and macrophage polarization modulation 6 7. Clinical significance: CDK5RAP3 loss causes severe encephalo-dysplasia in neurons, highlighting its essential developmental role 1. Its differential expression patterns suggest distinct roles across cancer types, potentially enabling tissue-specific therapeutic targeting.

Sources cited
1
CDK5RAP3 is a super-enhancer-driven gene elevated in neuroblastoma associated with poor prognosis, promotes NB cell growth via interfering with UFMylation system and triggering ER-phagy
PMID: 38636893
2
Neuronal CDK5RAP3 deficiency causes encephalo-dysplasia via upregulation of N-glycosylases and glycogen deposition; CDK5RAP3 is a key co-factor in the UFMylation system
PMID: 40188151
3
CDK5RAP3 acts as tumor suppressor in gastric cancer, negatively regulates gastric CSC self-renewal and invasion, expression regulated by ERK1/2 signaling
PMID: 32606358
4
CDK5RAP3 suppresses gastric cancer by inhibiting tumor-associated macrophage infiltration and M2 polarization through CCL2/CCR2 axis and NF-κB inhibition
PMID: 35999359
5
CDK5RAP3 contains functional LC3-interacting regions (LIRs) for binding to LC3 in selective autophagy cargo recruitment
PMID: 40320752
6
CDK5RAP3 is involved in reticulophagy (xERophagy) machinery participating in antiviral defense against viral infections
PMID: 39394962
7
CDK5RAP3 regulates ribosomal UFMylation of RPL26 and ribosome dissociation, critical for hepatocyte differentiation and protection against hepatic steatosis
PMID: 40347470
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
generalised epilepsyOpen Targets
0.32Weak
obesityOpen Targets
0.28Weak
hair colorOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.24Weak
prostate cancerOpen Targets
0.15Weak
medical procedureOpen Targets
0.14Weak
type 1 diabetes mellitusOpen Targets
0.14Weak
Pulmonary hypoplasiaOpen Targets
0.12Weak
rheumatoid arthritisOpen Targets
0.12Weak
gastric cancerOpen Targets
0.11Weak
intelligenceOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
cervical cancerOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FKBP6Protein interaction83%CDK5Protein interaction82%CDK5R1Protein interaction82%UBA5Protein interaction82%TMED3Protein interaction72%UFC1Protein interaction56%
Tissue Expression6 tissues
Liver
100%
Ovary
99%
Lung
56%
Bone Marrow
29%
Brain
16%
Heart
7%
Gene Interaction Network
Click a node to explore
CDK5RAP3FKBP6CDK5CDK5R1UBA5TMED3UFC1
PROTEIN STRUCTURE
Preparing viewer…
PDB8OJ5 · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.61–0.96]
RankingsWhere CDK5RAP3 stands among ~20K protein-coding genes
  • #3,645of 20,598
    Most Researched128 · top quartile
  • #9,129of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedCDK5RAP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reticulophagy and viral infection.
PMID: 39394962
Autophagy · 2025
1.00
2
CDK5RAP3 is a novel super-enhancer-driven gene activated by master TFs and regulates ER-Phagy in neuroblastoma.
PMID: 38636893
Cancer Lett · 2024
0.90
3
AlphaFold2 SLiM screen for LC3-LIR interactions in autophagy.
PMID: 40320752
Autophagy · 2025
0.80
4
Activation of STING by targeting a pocket in the transmembrane domain.
PMID: 35388221
Nature · 2022
0.70
5
Neuronal CDK5RAP3 deficiency leads to encephalo-dysplasia via upregulation of N-glycosylases and glycogen deposition.
PMID: 40188151
Cell Death Discov · 2025
0.60