Homo sapiens Gene: NDUFV1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-60805.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | NDUFV1 | ||||||||||||||||||
Gene Name | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | ||||||||||||||||||
Synonyms | CI-51K; CI51KD; UQOR1 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000167792 | ||||||||||||||||||
Encoded Proteins |
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson\'s disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 11:67606852-67612535 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q13.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Respiratory electron transport pathway
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
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KEGG |
Alzheimer's disease pathway
Oxidative phosphorylation pathway
Parkinson's disease pathway
Huntington's disease pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NM_001166102 NM_007103 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS53669 CCDS8173 | ||||||||||||||||||
HPRD | 01191 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||