Entrez Summary: The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015].
UniProt Summary: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in 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. {ECO:0000269|PubMed:27626371}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
NADH dehydrogenase (ubiquinone) activity
mitochondrial electron transport, NADH to ubiquinone
mitochondrial respiratory chain complex I
mitochondrial respiratory chain complex I assembly
NADH dehydrogenase complex assembly
mitochondrial ATP synthesis coupled electron transport
ATP synthesis coupled electron transport
mitochondrial respiratory chain complex assembly
respiratory electron transport chain
oxidative phosphorylation
sensory perception of sound
sensory perception of mechanical stimulus
cellular respiration
electron transport chain
ATP metabolic process
energy derivation by oxidation of organic compounds
mitochondrial inner membrane
generation of precursor metabolites and energy
mitochondrion organization
cellular protein-containing complex assembly
oxidation-reduction process
sensory perception
mitochondrion
phosphorylation
nervous system process
protein-containing complex assembly
protein-containing complex subunit organization
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)