NDUFA1
NADH:Ubiquinone Oxidoreductase Subunit A1
Gene Information Card
| Symbol | NDUFA1 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 4694 ncbi.nlm.nih.gov/gene/4694 |
| Ensembl ID | ENSG00000125337 |
| UniProt ID | P56556 |
| OMIM ID | 300078 |
| HGNC ID | 7687 |
| Aliases | CI-MWFE, MWFE, NDUFA1P |
Description
NDUFA1 encodes the MWFE 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. Mutations in NDUFA1 cause mitochondrial complex I deficiency, often presenting as Leigh syndrome or other early-onset neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Defective complex I leads to energy failure in the brainstem and basal ganglia, causing progressive neurodegeneration. | ClinVar, OMIM |
| X-linked intellectual disability | NDUFA1 mutations may contribute to cognitive impairment through mitochondrial dysfunction. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 22.5 | High |
| Skeletal muscle | 18.3 | High |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Medium |
| Kidney | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK293 | 14.2 | Embryonic kidney cell line |
| SH-SY5Y | 12.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Trp) | Missense | Rare | Reduced complex I activity; associated with Leigh syndrome |
| c.206G>A (p.Gly69Asp) | Missense | Rare | Impaired complex I assembly; causes MC1DN1 |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish NDUFA1 function, leading to complex I deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
X-linked inheritance; hemizygous males are fully affected; heterozygous females may show variable expression.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial electron transport | • NADH to ubiquinone |
| • oxidation-reduction process |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFA1 is a 70-amino acid protein (MWFE subunit) located in the mitochondrial inner membrane. It is a critical component of the hydrophobic arm of complex I, involved in proton translocation. The protein is highly conserved and essential for complex I stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA10 Knockout HEK293 Cell Line | EDJ-KQ5314 | Human | 4705 | Details Get a Quote |
| NDUFA1 Knockout HEK293 Cell Line | EDJ-KQ5318 | Human | 4694 | Details Get a Quote |
| NDUFA12 Knockout HEK293 Cell Line | EDJ-KQ14403 | Human | 55967 | Details Get a Quote |
| NDUFA10 Knockout HeLa Cell Line | EDJ-KQ27156 | Human | 4705 | Details Get a Quote |
| NDUFA1 Knockout HCT 116 Cell Line | EDJ-KQ27162 | Human | 4694 | Details Get a Quote |
| NDUFA12 Knockout A-549 Cell Line | EDJ-KQ44589 | Human | 55967 | Details Get a Quote |
| NDUFA12 Knockout HCT 116 Cell Line | EDJ-KQ44590 | Human | 55967 | Details Get a Quote |
| NDUFA10 Knockout A-549 Cell Line | EDJ-KQ28384 | Human | 4705 | Details Get a Quote |
| NDUFA10 Knockout HCT 116 Cell Line | EDJ-KQ28385 | Human | 4705 | Details Get a Quote |
| NDUFA1 Knockout A-549 Cell Line | EDJ-KQ28391 | Human | 4694 | Details Get a Quote |
| NDUFA1 Knockout HeLa Cell Line | EDJ-KQ28393 | Human | 4694 | Details Get a Quote |
| NDUFA12 Knockout HeLa Cell Line | EDJ-KQ43337 | Human | 55967 | Details Get a Quote |
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