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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NDUFC1
NADH:ubiquinone oxidoreductase subunit C1
Chromosome 4 · 4q31.1
NCBI Gene: 4717Ensembl: ENSG00000109390.14HGNC: HGNC:7705UniProt: O43677
20PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
respiratory chain complex Imitochondrial inner membranemitochondrionNADH dehydrogenase (ubiquinone) activitytype 2 diabetes mellitusdiabetes mellitusneurodegenerative diseaseParkinson disease
✦AI Summary

NDUFC1 (NADH:ubiquinone oxidoreductase subunit C1) is an accessory subunit of mitochondrial respiratory Complex I that facilitates electron transfer from NADH to ubiquinone in the electron transport chain 1. As a non-catalytic component, NDUFC1 supports Complex I function in oxidative phosphorylation (OXPHOS) and ATP synthesis rather than directly catalyzing redox reactions. NDUFC1 expression is activated during cellular differentiation and metabolic transitions. Upon OCT4 depletion in embryonic stem cells, NDUFC1 is among key proteins upregulated to enable OXPHOS machinery activation, shifting cells from glycolysis-dependent metabolism toward oxidative phosphorylation 1. Conversely, NDUFC1 expression decreases in contexts of impaired energy metabolism: it is downregulated in adrenocortical carcinoma relative to adenoma 2, in chr4 tendon injuries 3, and in mammary glands of dairy cows fed low-quality forage 4. Dysregulation of NDUFC1 carries clinical significance in multiple diseases. In adrenocortical carcinoma, miR-483-5p suppresses NDUFC1, reducing oxygen consumption and promoting metabolic shift toward glycolysis 2. In acute ischemic stroke, NDUFC1 was identified as a metabolism-related hub gene with diagnostic accuracy (AUC >0.8) and correlation with immune cell infiltration 5. These findings establish NDUFC1 as a biomarker reflecting mitochondrial function status across pathological conditions.

Sources cited
1
NDUFC1 is activated during OCT4-mediated differentiation of embryonic stem cells to enable OXPHOS machinery activation and oxidative phosphorylation
PMID: 22768158
2
NDUFC1 protein expression is lower in adrenocortical carcinoma than adenoma, and miR-483-5p regulates NDUFC1 expression affecting oxygen consumption and glycolysis
PMID: 36169175
3
NDUFC1 is significantly downregulated in lesional tendons in chronic tendon injuries, indicating impaired energy metabolism
PMID: 41610872
4
NDUFC1 expression is reduced in mammary glands of dairy cows fed low-quality forage, associated with decreased energy metabolism and reduced milk production
PMID: 29843597
5
NDUFC1 was identified as a metabolism-related hub gene in acute ischemic stroke with good diagnostic accuracy (AUC >0.8) and correlation with immune cell infiltration
PMID: 38850201
6
NDUFC1 is predominantly expressed in the preHTC subpopulation in osteoarthritis and involved in disulfidptosis-related gene signatures
PMID: 39779817
7
NDUFC1 is hypomethylated in early pregnancy peripheral blood in gestational diabetes mellitus cases compared to control pregnancies
PMID: 25676578
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
Parkinson diseaseOpen Targets
0.53Moderate
multiple sclerosisOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.45Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
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
prostate cancerOpen Targets
0.36Weak
COVID-19Open Targets
0.36Weak
abnormal glucose toleranceOpen Targets
0.36Weak
metabolic diseaseOpen Targets
0.35Weak
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
NDUFA1Protein interaction100%NDUFA2Protein interaction100%NDUFA3Protein interaction100%NDUFA7Protein interaction100%NDUFA8Protein interaction100%NDUFA10Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
39%
Ovary
28%
Brain
25%
Lung
20%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
NDUFC1NDUFA1NDUFA2NDUFA3NDUFA7NDUFA8NDUFA10
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT · 3.44 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.48–1.56]
RankingsWhere NDUFC1 stands among ~20K protein-coding genes
  • #14,205of 20,598
    Most Researched20
  • #698of 1,025
    FDA-Approved Drug Targets2
  • #15,468of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedNDUFC1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Identification of a novel disulfidptosis-related gene signature in osteoarthritis using bioinformatics analysis and experimental validation.
PMID: 39779817
Sci Rep · 2025
1.00
2
Altered expression of the
PMID: 36169175
Int J Oncol · 2022
0.86
3
Human embryonic stem cells and embryonal carcinoma cells have overlapping and distinct metabolic signatures.
PMID: 22768158
PLoS One · 2012
0.71
4
Revealing the potential role of hub metabolism-related genes and their correlation with immune cells in acute ischemic stroke.
PMID: 38850201
IET Syst Biol · 2024
0.57
5
Early Pregnancy Maternal Blood DNA Methylation in Repeat Pregnancies and Change in Gestational Diabetes Mellitus Status—A Pilot Study.
PMID: 25676578
Reprod Sci · 2015
0.43