NDUFS3
NADH:Ubiquinone Oxidoreductase Core Subunit S3
Gene Information Card
| Symbol | NDUFS3 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 4722 ncbi.nlm.nih.gov/gene/4722 |
| Ensembl ID | ENSG00000113648 |
| UniProt ID | O75489 |
| OMIM ID | 603846 |
| HGNC ID | 7708 |
| Aliases | CI-30kD, CI30, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3 |
Description
NDUFS3 encodes a 30 kDa iron-sulfur protein that is a core subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I). It is essential for the assembly and catalytic activity of Complex I, the first enzyme of the electron transport chain. Mutations in NDUFS3 are associated with mitochondrial complex I deficiency and Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 8 | Loss-of-function mutations impair Complex I assembly and activity, leading to defective oxidative phosphorylation | PMID: 15138884, ClinVar |
| Leigh syndrome | Biallelic pathogenic variants cause early-onset neurodegenerative disorder with bilateral brainstem lesions | PMID: 15138884, OMIM #603846 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.9 | Medium |
| Kidney | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.0 | High expression |
| K562 | 8.5 | Medium expression |
| HepG2 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.364G>A (p.Gly122Arg) | Missense | Rare | Impairs Complex I assembly and activity |
| c.455T>C (p.Leu152Pro) | Missense | Rare | Reduces protein stability and enzyme function |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, reducing Complex I activity and ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial electron transport | • NADH to ubiquinone |
| • iron-sulfur cluster binding | • mitochondrial inner membrane |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFS3 is a 30 kDa iron-sulfur protein that forms part of the catalytic core of mitochondrial Complex I. It binds an iron-sulfur cluster and is required for electron transfer from NADH to ubiquinone. The protein is located in the mitochondrial inner membrane and is essential for Complex I assembly and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFS3 Knockout HEK293 Cell Line | EDJ-KQ5320 | Human | 4722 | Details Get a Quote |
| NDUFS3 Knockout HCT 116 Cell Line | EDJ-KQ28397 | Human | 4722 | Details Get a Quote |
| NDUFS3 Knockout HeLa Cell Line | EDJ-KQ28398 | Human | 4722 | Details Get a Quote |
| NDUFS3 Knockout A-549 Cell Line | EDJ-KQ62467 | Human | 4722 | Details Get a Quote |
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