NDUFV1
NADH:Ubiquinone Oxidoreductase Core Subunit V1
Gene Information Card
| Symbol | NDUFV1 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit V1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 4723 ncbi.nlm.nih.gov/gene/4723 |
| Ensembl ID | ENSG00000167792 |
| UniProt ID | P49821 |
| OMIM ID | 161015 |
| HGNC ID | 7716 |
| Aliases | CI-51K, UQOR1, NDUFV1a |
Description
NDUFV1 encodes the 51 kDa core subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I), the first enzyme of the electron transport chain. This subunit contains the FMN-binding site and the NADH-binding pocket, essential for electron transfer from NADH to ubiquinone. Mutations in NDUFV1 cause complex I deficiency, leading to mitochondrial encephalopathies such as Leigh syndrome and leukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leigh syndrome | Loss of complex I activity due to impaired NADH oxidation and ATP production | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Reduced electron transfer and oxidative phosphorylation | ClinVar, OMIM |
| Leukoencephalopathy with brainstem and spinal cord involvement | Disrupted mitochondrial energy metabolism in glial cells | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal muscle | 15.2 | High |
| Brain | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Kidney | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.7 | Medium expression |
| SH-SY5Y | 13.1 | High expression |
| HepG2 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1267C>T (p.Arg423Trp) | Missense | Rare | Reduced FMN binding and complex I assembly |
| c.1156C>T (p.Arg386Cys) | Missense | Rare | Impaired NADH binding and catalytic activity |
| c.175G>A (p.Gly59Arg) | Missense | Rare | Disrupts FMN binding and electron transfer |
Mutation functional classification
Loss of Function (LOF)
Most NDUFV1 mutations are loss-of-function, reducing complex I assembly or catalytic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • FMN binding |
| • mitochondrial electron transport | • NADH to ubiquinone |
| • mitochondrial inner membrane | • oxidation-reduction process |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFV1 is a 464-amino acid protein (51 kDa) located in the mitochondrial inner membrane. It contains an N-terminal mitochondrial targeting sequence, a FMN-binding domain, and a NADH-binding domain. The protein is essential for the catalytic core of complex I, transferring electrons from NADH to FMN and then to iron-sulfur clusters. Defects in NDUFV1 impair mitochondrial respiration and ATP synthesis, leading to early-onset neurodegenerative disorders.
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