NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5
Gene Information Card
| Symbol | NDUFAF5 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 79133 ncbi.nlm.nih.gov/gene/79133 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q5TEU4 |
| OMIM ID | 612137 |
| HGNC ID | 28699 |
| Aliases | C20orf7, dJ842M6.1 |
Description
NDUFAF5 encodes a mitochondrial protein essential for the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It functions as an arginine methyltransferase that methylates the NDUFS7 subunit during complex I assembly. Mutations in NDUFAF5 cause mitochondrial complex I deficiency, a severe multisystem disorder often presenting with Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 20 | Loss-of-function mutations impair complex I assembly, leading to defective oxidative phosphorylation | OMIM #618239; ClinVar pathogenic variants |
| Leigh syndrome | Complex I deficiency results in progressive neurodegeneration and bilateral basal ganglia lesions | Case reports in NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.3 | Low |
| Kidney | 7.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.509G>A (p.Arg170Gln) | Missense | Rare | Loss of function; reduced complex I assembly |
| c.836T>C (p.Leu279Pro) | Missense | Rare | Loss of function; impaired methyltransferase activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported NDUFAF5 mutations are loss-of-function, leading to reduced complex I assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • methyltransferase activity (GO:0008168) |
| • mitochondrial respiratory chain complex I assembly (GO:0032981) | • protein methyltransferase activity (GO:0008276) |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFAF5 is a 338-amino acid mitochondrial protein that acts as an arginine methyltransferase. It specifically methylates arginine residues in the NDUFS7 subunit during the early stages of complex I assembly. The protein localizes to the mitochondrial matrix and is critical for the proper folding and incorporation of iron-sulfur clusters into complex I. Defects in NDUFAF5 lead to severe mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFAF5 Knockout HEK293 Cell Line | EDJ-KQ14404 | Human | 79133 | Details Get a Quote |
| NDUFAF5 Knockout A-549 Cell Line | EDJ-KQ44592 | Human | 79133 | Details Get a Quote |
| NDUFAF5 Knockout HCT 116 Cell Line | EDJ-KQ44593 | Human | 79133 | Details Get a Quote |
| NDUFAF5 Knockout HeLa Cell Line | EDJ-KQ44594 | Human | 79133 | Details Get a Quote |
