NDUFC1
NADH:Ubiquinone Oxidoreductase Subunit C1
Gene Information Card
| Symbol | NDUFC1 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit C1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.3 |
| NCBI Gene ID | 4717 ncbi.nlm.nih.gov/gene/4717 |
| Ensembl ID | ENSG00000109390 |
| UniProt ID | O43677 |
| OMIM ID | 603838 |
| HGNC ID | 7692 |
| Aliases | CI-15, CI-B15, NDUFC1 |
Description
NDUFC1 encodes a subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This subunit is part of the hydrophobic protein fraction and is essential for complex I assembly and activity. Mutations in NDUFC1 are associated with mitochondrial complex I deficiency, leading to a range of clinical phenotypes including Leigh syndrome and other neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants cause early-onset neurodegenerative disease with bilateral brainstem lesions. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.3 | Low |
| Brain | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 14.1 | Embryonic kidney cells |
| SH-SY5Y | 12.8 | Neuroblastoma cell line |
| HepG2 | 10.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185G>A (p.Arg62Gln) | Missense | Rare | Reduced complex I activity |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function, protein truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to absent or truncated protein, impairing complex I assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial electron transport |
| • NADH to ubiquinone | • mitochondrial inner membrane |
| • oxidative phosphorylation |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
Protein Summary
NDUFC1 is a 15 kDa subunit of mitochondrial complex I, located in the inner mitochondrial membrane. It is part of the hydrophobic arm of the complex and is required for proper assembly and electron transfer from NADH to ubiquinone. The protein contains a transmembrane domain and is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFC1 Knockout HEK293 Cell Line | EDJ-KQ5319 | Human | 4717 | Details Get a Quote |
| NDUFC1 Knockout A-549 Cell Line | EDJ-KQ28394 | Human | 4717 | Details Get a Quote |
| NDUFC1 Knockout HCT 116 Cell Line | EDJ-KQ28395 | Human | 4717 | Details Get a Quote |
| NDUFC1 Knockout HeLa Cell Line | EDJ-KQ28396 | Human | 4717 | Details Get a Quote |
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