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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDK5RAP1
CDK5RAP1 mitochondrial tRNA methylthiotransferase
Chromosome 20 · 20q11.21
NCBI Gene: 51654Ensembl: ENSG00000101391.22HGNC: HGNC:15880UniProt: A0A0S2Z592
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cyclin-dependent protein serine/threonine kinase activitymitochondrionmitochondrial matrixcytosoltype 2 diabetes mellitusdiabetes mellitusbasal cell carcinomaskin cancer
✦AI Summary

CDK5RAP1 (CDK5RAP1 mitochondrial tRNA methylthiotransferase) functions as a radical S-adenosylmethionine enzyme that catalyzes the 2-methylthio (ms²) modification of four mitochondrial tRNAs (Ser(UCN), Phe, Tyr, and Trp) at position 37 adjacent to the anticodon 1. This post-transcriptional modification is essential for maintaining mitochondrial protein synthesis fidelity and respiratory chain function 1. The enzyme converts N6-(dimethylallyl)adenosine to 2-methylthio-N6-(dimethylallyl)adenosine, ensuring accurate protein translation by mitochondrial ribosomes 1. CDK5RAP1 deficiency severely impairs mitochondrial protein synthesis, leading to respiratory defects and making cells susceptible to stress-induced mitochondrial dysfunction 1. In disease contexts, CDK5RAP1 deficiency induces apoptosis in cancer cells through ROS/JNK and NF-κB signaling pathways, suggesting potential therapeutic applications 23. The ms² modifications are sensitive to oxidative stress and reduced in mitochondrial disease patients, highlighting their pathological significance 1. Multiple splice variants exist with tissue-specific expression patterns, particularly in brain, placenta, and testis 4. CDK5RAP1 represents one of only eight radical SAM enzymes in humans and is critical for mitochondrial function and cellular energy metabolism 5.

Sources cited
1
CDK5RAP1 catalyzes 2-methylthio modification of mitochondrial tRNAs and is essential for mitochondrial protein synthesis
PMID: 25738458
2
CDK5RAP1 deficiency induces apoptosis in breast cancer cells via ROS/JNK signaling
PMID: 25607831
3
CDK5RAP1 deficiency induces apoptosis in melanoma cells through NF-κB signaling pathway
PMID: 29552116
4
Multiple splice variants of CDK5RAP1 exist with tissue-specific expression patterns
PMID: 15329498
5
CDK5RAP1 is one of eight radical S-adenosylmethionine enzymes present in humans
PMID: 27145839
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.29Weak
basal cell carcinomaOpen Targets
0.28Weak
skin cancerOpen Targets
0.28Weak
adolescent idiopathic scoliosisOpen Targets
0.27Weak
non-melanoma skin carcinomaOpen Targets
0.24Weak
cancerOpen Targets
0.08Suggestive
hair colorOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
melanomaOpen Targets
0.02Suggestive
myeloproliferative disorderOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
VitiligoOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
myopathyOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
mucous membrane pemphigoidOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOSC3Protein interaction100%EXOSC5Protein interaction99%CDK5Protein interaction91%CDK5R1Protein interaction75%PRPF40BProtein interaction70%TRIT1Protein interaction58%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
62%
Lung
56%
Ovary
55%
Heart
50%
Brain
38%
Gene Interaction Network
Click a node to explore
CDK5RAP1EXOSC3EXOSC5CDK5CDK5R1PRPF40BTRIT1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q53H36
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.62–1.08]
RankingsWhere CDK5RAP1 stands among ~20K protein-coding genes
  • #7,745of 20,598
    Most Researched59
  • #10,964of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCDK5RAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CDK5RAP1 deficiency induces cell cycle arrest and apoptosis in human breast cancer cell line by the ROS/JNK signaling pathway.
PMID: 25607831
Oncol Rep · 2015
1.00
2
Cloning, characterization and expression of CDK5RAP1_v3 and CDK5RAP1_v4, two novel splice variants of human CDK5RAP1.
PMID: 15329498
Genes Genet Syst · 2004
0.90
3
FAM136A as a Diagnostic Biomarker in Esophageal Cancer: Insights into Immune Infiltration, m6A Modification, Alternative Splicing, Cuproptosis, and the ceRNA Network.
PMID: 39185769
Adv Biol (Weinh) · 2024
0.80
4
Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population.
PMID: 22534366
Eur J Dermatol · 2012
0.70
5
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
PMID: 27145839
Annu Rev Biochem · 2016
0.60