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NDUFS1
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the complex I 75 kDa subunit family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Mitochondrial; EC 1.6.99.3; Energy Metabolism - oxidative phosphorylation; Oxidoreductase; EC 1.6.5.3 |
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Cellular Component: mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrial respiratory chain complex I
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Molecular Function: 2 iron, 2 sulfur cluster binding; protein binding; electron carrier activity; NADH dehydrogenase (ubiquinone) activity; metal ion binding; 4 iron, 4 sulfur cluster binding
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Biological Process: ATP metabolic process; mitochondrial electron transport, NADH to ubiquinone; regulation of mitochondrial membrane potential; apoptosis; cellular respiration
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Reference #:
P28331 (UniProtKB)
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| Alt. Names/Synonyms: CI-75kD; complex I, mitochondrial respiratory chain, 75-kD subunit; Complex I-75kD; MGC26839; NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase); NADH-coenzyme Q reductase; NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; NDUFS1; NDUS1; PRO1304 |
| Gene Symbols: NDUFS1 |
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Molecular weight: 79,468 Da
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Basal Isoelectric point: 5.89
Predict pI for various phosphorylation states
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