NDUFV3
NADH:ubiquinone oxidoreductase core subunit V3
Gene Information Card
| Symbol | NDUFV3 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase core subunit V3 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 4731 ncbi.nlm.nih.gov/gene/4731 |
| Ensembl ID | ENSG00000160219 |
| UniProt ID | P56181 |
| OMIM ID | 603844 |
| HGNC ID | 7719 |
| Aliases | CI-39k, CI39k, NDUFV3-1, NDUFV3-2 |
Description
NDUFV3 encodes a 39 kDa core subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I), the first enzyme of the electron transport chain. This subunit is essential for complex I assembly and activity, coupling electron transfer from NADH to ubiquinone with proton translocation across the inner mitochondrial membrane. Alternative splicing generates two isoforms: NDUFV3-1 (long) and NDUFV3-2 (short).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) | Loss-of-function mutations impair complex I assembly/activity, reducing ATP production | ClinVar, OMIM |
| Leigh syndrome | Complex I dysfunction leads to neurodegeneration; NDUFV3 variants reported in rare cases | ClinVar, OMIM |
| Parkinson disease (susceptibility) | Mitochondrial dysfunction and oxidative stress; NDUFV3 variants may modulate risk | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.1 | High |
| Liver | 15.3 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 11.4 | Medium |
| Lung | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 12.5 | Medium expression |
| SH-SY5Y | 10.1 | Medium expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.364C>T (p.Arg122*) | Nonsense | Rare | Loss of function; associated with complex I deficiency |
| c.487A>G (p.Met163Val) | Missense | 0.01% (gnomAD) | Likely benign; uncertain significance |
| c.602G>A (p.Arg201His) | Missense | 0.005% (gnomAD) | Uncertain significance; reported in Leigh syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or prevent proper assembly of complex I, leading to reduced enzymatic activity and mitochondrial dysfunction.
Gain of Function (GOF)
No known gain-of-function mutations reported for NDUFV3.
Dominant Negative (DN)
No evidence of dominant-negative effects; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity (GO:0008137) | • mitochondrial respiratory chain complex I (GO:0005747) |
| • oxidation-reduction process (GO:0055115) | • mitochondrial inner membrane (GO:0005743) |
| • electron transfer activity (GO:0009055) |
Pathways
• Oxidative phosphorylation (KEGG:00190)
• Respiratory electron transport (Reactome:R-HSA-611105)
• Complex I biogenesis (Reactome:R-HSA-6799198)
Protein Summary
NDUFV3 is a 39 kDa core subunit of mitochondrial complex I, located in the inner mitochondrial membrane. It contains an iron-sulfur cluster binding domain and is required for the assembly and catalytic activity of the holoenzyme. The protein interacts with other complex I subunits to facilitate electron transfer from NADH to ubiquinone. Alternative splicing produces two isoforms, with the long isoform (NDUFV3-1) being the predominant form in most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFV3 Knockout HEK293 Cell Line | EDJ-KQ5324 | Human | 4731 | Details Get a Quote |
| NDUFV3 Knockout A-549 Cell Line | EDJ-KQ28408 | Human | 4731 | Details Get a Quote |
| NDUFV3 Knockout HCT 116 Cell Line | EDJ-KQ28409 | Human | 4731 | Details Get a Quote |
| NDUFV3 Knockout HeLa Cell Line | EDJ-KQ28410 | Human | 4731 | Details Get a Quote |
