NP_001186910.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2
NCBI Official Synonym Full Names
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NCBI Protein Information
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; complex I 75kDa subunit; complex I, mitochondrial respiratory chain, 75-kD subunit; mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit
UniProt Protein Name
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
UniProt Synonym Protein Names
Complex I-75kD
UniProt Synonym Gene Names
UniProt Entry Name
NDUS1_HUMAN
NCBI Summary for NDUFS1
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein 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. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
UniProt Comments for NDUFS1
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.
Protein type: Oxidoreductase; Energy Metabolism - oxidative phosphorylation; EC 1.6.5.3; Mitochondrial; EC 1.6.99.3
Chromosomal Location of Human Ortholog: 2q33-q34
Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrial respiratory chain complex I
Molecular Function: 2 iron, 2 sulfur cluster binding; protein binding; electron carrier activity; NADH dehydrogenase (ubiquinone) activity; 4 iron, 4 sulfur cluster binding; metal ion binding
Biological Process: ATP metabolic process; cellular metabolic process; apoptotic mitochondrial changes; mitochondrial electron transport, NADH to ubiquinone; regulation of mitochondrial membrane potential; cellular respiration
Disease: Mitochondrial Complex I Deficiency
Research Articles on NDUFS1
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Products associated with anti-NDUFS1 antibody
Pathways associated with anti-NDUFS1 antibody
Diseases associated with anti-NDUFS1 antibody
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