Homo sapiens Protein: NDUFS1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-388555.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NDUFS1 | ||||||||||||||||||||||
Protein Name | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) | ||||||||||||||||||||||
Synonyms | CI-75k; CI-75Kd; PRO1304; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000397760 | ||||||||||||||||||||||
InnateDB Gene | IDBG-79438 (NDUFS1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | 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. {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Mitochondrion inner membrane. | ||||||||||||||||||||||
Disease Associations | Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269PubMed:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001041
2Fe-2S ferredoxin-type domain IPR006656 Molybdopterin oxidoreductase IPR010228 NADH:ubiquinone oxidoreductase, subunit G IPR015405 NADH-quinone oxidoreductase, chain G, C-terminal IPR019574 NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding |
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PFAM |
PF00111
PF00384 PF09326 PF10588 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00929
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P28331 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P28331 | ||||||||||||||||||||||
TrEMBL | Q9P1A0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4719 | ||||||||||||||||||||||
UniGene | Hs.598436 | ||||||||||||||||||||||
RefSeq | NP_001186912 | ||||||||||||||||||||||
HUGO | HGNC:7707 | ||||||||||||||||||||||
OMIM | 157655 | ||||||||||||||||||||||
CCDS | CCDS56162 | ||||||||||||||||||||||
HPRD | 01145 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC007383 AF119845 AK295705 AK295966 AK295987 AK298320 AK300585 BC012068 BC022368 BC030833 CH471063 X61100 | ||||||||||||||||||||||
GenPept | AAF69599 AAH12068 AAH22368 AAH30833 AAY15061 BAG58551 BAG58743 BAG58762 BAG60573 BAG62283 CAA43412 EAW70379 | ||||||||||||||||||||||