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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NDUFV1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 4723 Official gene symbol NDUFV1 Full name NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa Aliases ,CI-51K,CI51KD,FLJ59059,UQOR1, 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. Location Chromosome: 11   Locus: 11q13 Gene position 67374323 - 67380012  Map Viewer Gene orientation plus Gene size 5690 bp Gene sequence >NDUFV1:12680118..12685807:Length=5690 GAAGTTGAAGGGGCGCAGCGATACCGGTGCGCGGCGCTGGCGTCGGGCGCGTGACGTCTT TCCTGCGCGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCAGTGCTATGAAGGT GACAGCGTGAGGTGACCCATCTGGCCCGCCGCGATGCTGGCAACACGGCGGCTGCTCGGC TGGTCGCTTCCCGCGCGGGTATCTGTGCGTTTCAGCGGCGACACGGTGAGGCCCAGCCTG GCTGGGGCCACGGGTGTTTGGGGCCGGGTGTCGCGGCCGCGCCCGTGCACGAGCAGTCCC TGGGGTCTGTAGTGGCCTCTGGAGAGCCCTTCTCCCCAGGCCAGGCGGGAAGGCCCCCGC TCCGGCCTGGTTGAAGTAGGGGAACGGGTCCCAACGCGGGGCCGACTCCCTTGACCCTCT GACTTGCTGGCTTCCCTTGTTTTACAGTCCTCGGCCTGGCGGAAGTTTTGCAGGTTGTGA AGACCCCTAGTCTTTCATTCTCTCCTTGTCACAGCCTTGTAGGGCGTGAAGGGGTCATTG CCCCATTTAGGGATGCGCACCTCCTGATTTCCCGTCCACTGCTCTGCGCCCTGAAGTGGC TGAAAAGTGCTCTTAAAAGGATGGGAATCCCGTCGCCCTCAGCTGGTGCGCTCTCCACTG GGTCGTGGGGCTCCTCATTTCATCCTAAGTGAGCCCCTCCATCACCTGTGTGTTAAGGAG GCATTTCTTTCCCATCAGTAAACACATTTCGCCTCTTCGGCCGAGGTAGGAATATAAAAG GCCCCTGGCCTACCCAAGTTTTGGTCCAGCAGGGGAGCCAGGCCGGGAAAGGGCCAAGCT GCCACACTCGGCTTGTGGGGCTGTGTGGTGCCGTGATGCAGCTGTGGGTTTGGCCACCGA CAGACCTGGGCTCAAATTGGACCTGCTGCTTTTGACTGTGAGACCTTCCATAAGCTCCTT TTGCTCCAAGCCTCAGTTTTCTCCTCTGTGAAACAGAGAAAATCGTTCCTATCAGAGTTC TTATGAGGATGAAATGGGATTTTGGATGTAAAATGCTTCCATCCAGTACCTGCTAAACAA AATGCTTACTAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC TGAGGCGGGCGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAA CCCTGTCTCTACTAAAAGTGCAAAAATTACCCGGGCGTGGTGGTGAGTGCCTGTAATCCC AGCTATCCAGAGGCTGAGGCACAAGAATTATTTGAACCTGGGAGGTGGAGTTTGCAGTGA GCTGAGATTACGCCACTGCACTCCAGCCTAGGCAAAAGAGCAAGAGTCTGTCTCAAAAAA AAAAAAATGCTTACTAAGTGGCAGTGGTATCTATGATGCTATAGATGCTTCCCTAGCCCT AGCCCAGCCCCTCCTAAATAGGGAGACCCAAGATTCTGTAGCTTCTGGCCCAATCCCTCA TGGCCCCAGAGCACTCTGGGCCTCCTGACCCTTTGTCTCCCTAGACAGCACCCAAGAAAA CCTCATTTGGCTCGCTGAAGGATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATG ACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATT GCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACA AAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTG AGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCC TCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGG GTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGT GGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAG ACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGC TCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCT TTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTT TTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCT TTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGG GCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCC ACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCT GGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCC CTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTC TGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCG GGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGC CTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTC TACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGT TCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGT CTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTT GGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGC TTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACT ATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAAT ACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAA ATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAG GACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGT TTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCA GATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAG CATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCT GACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCG AGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGA CGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGA GTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGG TAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGC TCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAG TAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCG GTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTA AGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAG AATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACC TCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTG AAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCA CAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCA CCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGT CTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTG GTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAG GAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGC CGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCA CGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCC CCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAG GCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCC TGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCC AGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAA GGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGA GGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGC TAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCA CCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCT GTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCT GTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACA TCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGA TGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCC TGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCG CCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAG GGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAG GGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAG CATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATC CATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCC OMIM ID 161015