Aliases for NDUFS1 Gene
- NADH:Ubiquinone Oxidoreductase Core Subunit S1 2 3 5
- NADH-Ubiquinone Oxidoreductase 75 KDa Subunit, Mitochondrial 2 3 4
- NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q Reductase) 2 3
- Complex I 75kDa Subunit 2 3
- NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme Q Reductase) 2
- Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit 3
- Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit 3
External Ids for NDUFS1 Gene
Previous GeneCards Identifiers for NDUFS1 Gene
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]
GeneCards Summary for NDUFS1 Gene
NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1) is a Protein Coding gene. Diseases associated with NDUFS1 include Mitochondrial Complex V Deficiency, Nuclear Type 1 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is CIAO3.
UniProtKB/Swiss-Prot Summary for NDUFS1 Gene
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 (By similarity). 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.