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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFV3
NADH:ubiquinone oxidoreductase subunit V3
Chromosome 21 · 21q22.3
NCBI Gene: 4731Ensembl: ENSG00000160194.19HGNC: HGNC:7719UniProt: P56181
60PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingrespiratory chain complex Imitochondrionmitochondrial inner membranetype 2 diabetes mellitusdiabetes mellituspolycystic ovary syndromegestational diabetes
✦AI Summary

NDUFV3 encodes an accessory subunit of mitochondrial respiratory complex I (NADH:ubiquinone oxidoreductase) that participates in electron transfer from NADH to ubiquinone 1. The gene produces two distinct functional isoforms through alternative splicing: a canonical 10 kDa isoform and a novel 50 kDa isoform, both of which can assemble into mature complex I 23. The longer 50 kDa isoform shows tissue-specific expression patterns, being more abundant in brain tissue compared to heart, liver, kidney, and skeletal muscle 3. This tissue-specific distribution has functional significance, as the brain-specific long isoform affects complex I's susceptibility to redox-dependent flavin mononucleotide (FMN) loss during ischemia/reperfusion conditions, making brain complex I more vulnerable than cardiac complex I 4. NDUFV3 is regulated by splicing factor PTBP1, and its exon skipping contributes to cellular senescence and mitochondrial dysfunction 5. The gene has been identified as a potential therapeutic target for sepsis-related acute respiratory distress syndrome 6 and is involved in β-cell mitochondrial metabolism through miR-29 regulation 7. Located on chromosome 21.3, NDUFV3 may contribute to Down syndrome phenotypes 1.

Sources cited
1
NDUFV3 encodes a 10-kDa subunit of mitochondrial complex I and is located on chromosome 21q22.3
PMID: 9344673
2
NDUFV3 exists in two functional isoforms (10 kDa and 50 kDa) generated through alternative splicing
PMID: 27987311
3
The 50 kDa isoform shows tissue-specific expression with higher abundance in brain tissue
PMID: 27940020
4
Brain-specific long NDUFV3 isoform affects complex I vulnerability to FMN loss during ischemia/reperfusion
PMID: 35189550
5
NDUFV3 exon skipping is regulated by PTBP1 and contributes to cellular senescence
PMID: 39872664
6
NDUFV3 identified as potential drug target for sepsis-related ARDS
PMID: 40116326
7
NDUFV3 is involved in β-cell mitochondrial metabolism through miR-29 regulation
PMID: 38801063
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen Targets
0.40Weak
prediabetes syndromeOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.39Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
COVID-19Open Targets
0.36Weak
prostate cancerOpen Targets
0.36Weak
abnormal glucose toleranceOpen Targets
0.36Weak
metabolic diseaseOpen Targets
0.35Weak
Autosomal dominant polycystic kidney diseaseOpen Targets
0.34Weak
colorectal cancerOpen Targets
0.33Weak
breast cancerOpen Targets
0.33Weak
chronic kidney diseaseOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.32Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets3
ME-344Phase I/II
Mitochondrial complex I (NADH dehydrogenase) inhibitor
breast cancer
METFORMINApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
diabetes mellitus
METFORMIN HYDROCHLORIDEApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
type 2 diabetes mellitus
Related Genes
NDUFB6Protein interaction100%NDUFV1Protein interaction100%COX7A1Protein interaction100%ND1Protein interaction100%ND2Protein interaction100%ND3Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
59%
Brain
37%
Ovary
35%
Lung
34%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
NDUFV3NDUFB6NDUFV1COX7A1ND1ND2ND3
PROTEIN STRUCTURE
Preparing viewer…
PDB5XTB · 3.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.14 [0.90–1.46]
RankingsWhere NDUFV3 stands among ~20K protein-coding genes
  • #7,690of 20,598
    Most Researched60
  • #648of 1,025
    FDA-Approved Drug Targets2
  • #14,915of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedNDUFV3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cellular senescence induced by down-regulation of
PMID: 39872664
Life Med · 2024
1.00
2
Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).
PMID: 9344673
Genomics · 1997
0.90
3
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.
PMID: 10950928
Genomics · 2000
0.80
4
Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart.
PMID: 35189550
Redox Biol · 2022
0.70
5
Subunit NDUFV3 is present in two distinct isoforms in mammalian complex I.
PMID: 27940020
Biochim Biophys Acta Bioenerg · 2017
0.60