Homo sapiens Gene: NDUFV1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:67606852-67612535
Strand Forward strand
Band q13.2
Transcripts
ENST00000322776 ENSP00000322450
ENST00000415352 ENSP00000395368
ENST00000532303 ENSP00000432015
ENST00000532244 ENSP00000435202
ENST00000528328 ENSP00000436906
ENST00000529927 ENSP00000436766
ENST00000524876
ENST00000524838
ENST00000532343 ENSP00000431751
ENST00000528548
ENST00000532260
ENST00000530014
ENST00000530103 ENSP00000434575
ENST00000525086
ENST00000534139
ENST00000533075 ENSP00000437267
ENST00000529867 ENSP00000434438
ENST00000526138
ENST00000530638 ENSP00000436936
ENST00000528314 ENSP00000434581
ENST00000528377
ENST00000526770
ENST00000526169
ENST00000533919 ENSP00000435199
ENST00000527355 ENSP00000432637
ENST00000527923
ENST00000531250
ENST00000534352
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.
Experimentally validated
Total 40 [view]
Protein-Protein 37 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0010181 FMN binding
GO:0016651 oxidoreductase activity, acting on NAD(P)H
GO:0046872 metal ion binding
GO:0051287 NAD binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
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
Respiratory electron transport pathway
KEGG
Oxidative phosphorylation pathway
Alzheimer's disease pathway
Parkinson's disease pathway
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E9PPD6
UniProt Splice Variant
Entrez Gene 4723
UniGene
RefSeq NM_001166102 NM_007103
HUGO HGNC:7716
OMIM 161015
CCDS CCDS53669 CCDS8173
HPRD 01191
IMGT
EMBL AP003385
GenPept
RNA Seq Atlas 4723