NDUFAF1
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1
Gene Information Card
| Symbol | NDUFAF1 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 51103 ncbi.nlm.nih.gov/gene/51103 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q9Y375 |
| OMIM ID | 606934 |
| HGNC ID | 18828 |
| Aliases | CIA30, CGI-65, MC1DN11 |
Description
NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1) encodes a mitochondrial protein essential for the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It acts as a chaperone, facilitating the incorporation of subunits into the holoenzyme. Mutations in NDUFAF1 cause mitochondrial complex I deficiency, nuclear type 11 (MC1DN11), presenting with Leigh syndrome or other early-onset neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) | Loss-of-function mutations impair complex I assembly, reducing ATP production and increasing oxidative stress. | OMIM #618235; ClinVar pathogenic variants |
| Leigh syndrome | Defective complex I leads to neurodegeneration and bilateral brainstem lesions. | Case reports in MC1DN11 patients |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | High |
| Skeletal Muscle | 8.7 | Medium |
| Liver | 6.1 | Medium |
| Brain | 5.4 | Medium |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | High expression |
| HeLa | 7.5 | Moderate expression |
| SH-SY5Y | 6.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69*) | Nonsense | Rare | Loss of protein function; associated with MC1DN11 |
| c.364G>A (p.Gly122Arg) | Missense | Rare | Impaired complex I assembly |
| c.527T>C (p.Leu176Pro) | Missense | Rare | Reduced stability of NDUFAF1 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing complex I assembly failure.
Gain of Function (GOF)
Not reported for NDUFAF1.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial respiratory chain complex I (GO:0005747) |
| • mitochondrial respiratory chain complex I assembly (GO:0032981) | • mitochondrial electron transport (GO:0006120) |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFAF1 is a 36 kDa mitochondrial matrix protein that functions as an assembly factor for complex I. It interacts with other assembly factors (e.g., NDUFAF2, NDUFAF3) and chaperones the incorporation of membrane and peripheral subunits. Deficiency leads to accumulation of assembly intermediates and loss of complex I activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFAF1 Knockout HEK293 Cell Line | EDJ-KQ10918 | Human | 51103 | Details Get a Quote |
| NDUFAF1 Knockout HeLa Cell Line | EDJ-KQ37368 | Human | 51103 | Details Get a Quote |
| NDUFAF1 Knockout A-549 Cell Line | EDJ-KQ38668 | Human | 51103 | Details Get a Quote |
| NDUFAF1 Knockout HCT 116 Cell Line | EDJ-KQ38669 | Human | 51103 | Details Get a Quote |
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