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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NT5M
5',3'-nucleotidase, mitochondrial
Chromosome 17 · 17p11.2
NCBI Gene: 56953Ensembl: ENSG00000205309.14HGNC: HGNC:15769UniProt: Q2I378
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
dGMP catabolic processdUMP catabolic process3'-nucleotidase activity5'-nucleotidase activityjoint diseaseneurodegenerative diseaseneuroinflammatory disorderpancreatic adenocarcinoma
✦AI Summary

NT5M (5',3'-nucleotidase, mitochondrial) is a mitochondrial enzyme that dephosphorylates 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides, protecting mitochondrial DNA replication from excess dTTP accumulation 1. The enzyme preferentially processes deoxynucleoside-5'-phosphates and is encoded by a nuclear gene located on chromosome 17.2, within a region associated with Smith-Magenis syndrome 1. NT5M has marginal activity toward dIMP and dGMP, suggesting substrate specificity in nucleotide catabolism. Beyond nucleotide metabolism, emerging evidence implicates NT5M in immune regulation and disease pathogenesis. Decreased NT5M expression correlates with poor clinical outcomes in pancreatic adenocarcinoma, where downregulation associates with increased CXCL8 expression and PD-L1 upregulation, promoting immune evasion 2. Conversely, NT5M is identified as a genetic risk factor for intracranial aneurysms (OR: 1.91) and aneurysmal subarachnoid hemorrhage (OR: 2.13) in genome-wide association studies 3. NT5M expression is also suppressed by tenofovir treatment in HIV-target cells, with implications for inflammatory responses 4. While NT5M mutations are not commonly detected in mitochondrial DNA depletion syndrome, the gene remains relevant for genetic counseling 5. NT5M may serve as a potential viral protease substrate in Zika virus infection 6.

Sources cited
1
NT5M encodes mitochondrial deoxyribonucleotidase that dephosphorylates deoxynucleoside-5'-phosphates; located on chromosome 17p11.2 in Smith-Magenis syndrome region
PMID: 12234672
2
NT5M downregulation associates with increased CXCL8 and PD-L1 expression, promoting immune evasion in pancreatic adenocarcinoma; lower NT5M correlates with poor prognosis
PMID: 40683920
3
NT5M identified as genetic risk factor for intracranial aneurysms (OR: 1.91) and aneurysmal subarachnoid hemorrhage (OR: 2.13)
PMID: 39051921
4
Tenofovir inhibits NT5M gene expression in HIV-target cells including macrophages and dendritic cells
PMID: 24205323
5
NT5M mutations not detected in mitochondrial depletion syndrome patients; included in genetic screening panels for counseling
PMID: 12655576
6
NT5M identified as potential substrate for Zika virus protease cleavage
PMID: 30742841
Disease Associationsⓘ20
joint diseaseOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.23Weak
neuroinflammatory disorderOpen Targets
0.17Weak
pancreatic adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.02Suggestive
eating disorderOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
Smith-Magenis syndromeOpen Targets
0.01Suggestive
LeishmaniasisOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
psychosisOpen Targets
0.01Suggestive
genetic disorderOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
Other metabolic diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NMNAT1Protein interaction99%UPRTProtein interaction97%ADAProtein interaction96%ADKProtein interaction96%ADSLProtein interaction96%ADSS2Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
76%
Heart
43%
Ovary
30%
Lung
13%
Liver
11%
Gene Interaction Network
Click a node to explore
NT5MNMNAT1UPRTADAADKADSLADSS2
PROTEIN STRUCTURE
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PDB4MUM · 1.27 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.77–1.52]
RankingsWhere NT5M stands among ~20K protein-coding genes
  • #16,238of 20,598
    Most Researched13
  • #15,273of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedNT5M
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Identification of immune-inflammation targets for intracranial aneurysms: a multiomics and epigenome-wide study integrating summary-data-based Mendelian randomization, single-cell-type expression analysis, and DNA methylation regulation.
PMID: 39051921
Int J Surg · 2025
1.00
2
Bioinformatics analysis identifies NT5M modulates immune evasion through PD-L1 via CXCL8 in pancreatic adenocarcinoma.
PMID: 40683920
Sci Rep · 2025
0.89
3
Effect of tenofovir on nucleotidases and cytokines in HIV-1 target cells.
PMID: 24205323
PLoS One · 2013
0.78
4
Mutation analysis in 16 patients with mtDNA depletion.
PMID: 12655576
Hum Mutat · 2003
0.67
5
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
0.56