UniProt Protein Function: | NDUFA1: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be 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. Defects in NDUFA1 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 NDUFA1 subunit family. |
UniProt Protein Details: | Protein type:Oxidoreductase; Mitochondrial; EC 1.6.5.3; Membrane protein, integral; Energy Metabolism - oxidative phosphorylation; EC 1.6.99.3 Chromosomal Location of Human Ortholog: Xq24 Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial membrane; integral to membrane; mitochondrial respiratory chain complex I Molecular Function:NADH dehydrogenase (ubiquinone) activity Biological Process: cellular metabolic process; mitochondrial electron transport, NADH to ubiquinone Disease: Mitochondrial Complex I Deficiency |
NCBI Summary: | The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] |
UniProt Code: | O15239 |
NCBI GenInfo Identifier: | 3334271 |
NCBI Gene ID: | 4694 |
NCBI Accession: | O15239.1 |
UniProt Related Accession: | O15239 |
Molecular Weight: | 8,072 Da |
NCBI Full Name: | NADH dehydrogenase |
NCBI Synonym Full Names: | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa |
NCBI Official Symbol: | NDUFA1 |
NCBI Official Synonym Symbols: | MWFE; ZNF183; CI-MWFE |
NCBI Protein Information: | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; complex I-MWFE; type I dehydrogenase; complex I MWFE subunit; NADH oxidoreductase subunit MWFE; NADH:ubiquinone oxidoreductase (com |
UniProt Protein Name: | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 |
UniProt Synonym Protein Names: | Complex I-MWFE; CI-MWFE; NADH-ubiquinone oxidoreductase MWFE subunit |
UniProt Gene Name: | NDUFA1 |
UniProt Entry Name: | NDUA1_HUMAN |