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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NT5C
5', 3'-nucleotidase, cytosolic
Chromosome 17 · 17q25.1
NCBI Gene: 30833Ensembl: ENSG00000125458.8HGNC: HGNC:17144UniProt: Q8TCD5
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
dephosphorylationidentical protein bindingnucleotidase activityextracellular exosometype 2 diabetes mellitusneoplasmcolorectal carcinomametabolic syndrome
✦AI Summary

NT5C (5',3'-nucleotidase, cytosolic) is a cytosolic enzyme that dephosphorylates deoxyribonucleoside monophosphates, showing preference for dUMP and dTMP substrates 1. The enzyme catalyzes the conversion of nucleoside monophosphates to nucleosides and inorganic phosphates, playing a critical role in nucleotide pool homeostasis and pyrimidine metabolism 2. NT5C localizes to the cytosol and nucleus, with potential mitochondrial association 1. Regarding disease relevance, NT5C has emerged as a significant pharmacogenomic target. Loss-of-function studies demonstrated that NT5C knockdown impacts sensitivity to 5-fluorouracil (5-FU), a chemotherapy agent used for colorectal cancer 3. Genetic analyses identified NT5C as a protein with strong genetic support for involvement in non-alcoholic fatty liver disease (NAFLD) 4. Additionally, NT5C expression changes were observed in glaucoma-related trabecular meshwork dysfunction 5 and in neurodevelopmental outcomes associated with prenatal air pollution exposure 6. Clinically, NT5C's metabolic functions have therapeutic implications. Suppression of NT5C enzymes increases AMP availability, enhancing AMPK phosphorylation and improving metabolic flexibility in skeletal muscle, potentially benefiting type 2 diabetes management 2. The enzyme also metabolizes nucleoside analog drugs including fludarabine 7, suggesting its importance in drug disposition and efficacy.

Sources cited
1
NT5C is a cytosolic deoxyribonucleotidase with preference for dephosphorylating deoxynucleoside-5'-phosphates, located on chromosome 17, with conserved nucleotidase motifs
PMID: 12234672
2
NT5C enzymes dephosphorylate nucleoside monophosphates to produce nucleosides and regulate intracellular AMP/ATP ratios and AMPK activation in skeletal muscle
PMID: 21873433
3
NT5C knockdown produces significant changes in cellular sensitivity to 5-fluorouracil chemotherapy, supporting its role as a pharmacogenomic candidate
PMID: 21449674
4
NT5C identified with strong genetic support for involvement in non-alcoholic fatty liver disease through loss-of-function genetic analysis
PMID: 38325120
5
NT5C expression changes identified in trabecular meshwork cells under mechanical stress associated with glaucoma pathology
PMID: 39286096
6
NT5C methylation associated with fetal brain development and neurodevelopmental outcomes
PMID: 36855151
7
NT5C catalyzes dephosphorylation of nucleoside analog drugs including fludarabine with tissue-specific localization in kidney cortex and colonic mucosa
PMID: 41187513
8
NT5C expression inversely regulates fluorothymidine uptake by dephosphorylating its monophosphate form
PMID: 28551637
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.07Suggestive
papillomaOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
pneumococcal pneumoniaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
pneumoniaOpen Targets
0.01Suggestive
pulmonary fibrosisOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NMNAT1Protein interaction99%UPRTProtein interaction97%ADAProtein interaction97%ADSS2Protein interaction97%ATICProtein interaction97%DCTDProtein interaction97%
Tissue Expression6 tissues
Ovary
100%
Lung
85%
Liver
68%
Bone Marrow
43%
Heart
41%
Brain
39%
Gene Interaction Network
Click a node to explore
NT5CNMNAT1UPRTADAADSS2ATICDCTD
PROTEIN STRUCTURE
Preparing viewer…
PDB4L57 · 1.08 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.47–1.19]
RankingsWhere NT5C stands among ~20K protein-coding genes
  • #11,760of 20,598
    Most Researched31
  • #12,452of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedNT5C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Prioritising genetic findings for drug target identification and validation.
PMID: 38325120
Atherosclerosis · 2024
1.00
2
Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs.
PMID: 12234672
Gene · 2002
0.90
3
Fludarabine metabolism by cytosolic 5'-nucleotidase III and its tissue-specific localization mapping using mass spectrometry imaging.
PMID: 41187513
Drug Metab Dispos · 2025
0.80
4
Systems pharmacology assessment of the 5-fluorouracil pathway.
PMID: 21449674
Pharmacogenomics · 2011
0.70
5
DNA methylation as a potential mediator of the association between indoor air pollution and neurodevelopmental delay in a South African birth cohort.
PMID: 36855151
Clin Epigenetics · 2023
0.60