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Identification
HMDB Protein ID HMDBP00186
Secondary Accession Numbers
  • 5418
  • HMDBP03465
Name NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
Synonyms
  1. CI-51kD
  2. Complex I-51kD
  3. NADH dehydrogenase flavoprotein 1
  4. NADH-ubiquinone oxidoreductase 51 kDa subunit
Gene Name NDUFV1
Protein Type Unknown
Biological Properties
General Function Involved in NADH dehydrogenase (ubiquinone) activity
Specific 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).
Pathways
  • Alzheimer's disease
  • Huntington's disease
  • Oxidative phosphorylation
  • Parkinson's disease
Reactions
NADH + Coenzyme Q10 → NAD + QH(2) details
NADH + acceptor → NAD + reduced acceptor details
GO Classification
Biological Process
small molecule metabolic process
mitochondrial electron transport, NADH to ubiquinone
Cellular Component
mitochondrial respiratory chain complex I
Function
binding
nucleotide binding
catalytic activity
nadh dehydrogenase activity
nad or nadh binding
nadh dehydrogenase (quinone) activity
nadh dehydrogenase (ubiquinone) activity
metal cluster binding
iron-sulfur cluster binding
4 iron, 4 sulfur cluster binding
fmn binding
oxidoreductase activity
oxidoreductase activity, acting on nadh or nadph
Molecular Function
NAD binding
metal ion binding
4 iron, 4 sulfur cluster binding
FMN binding
NADH dehydrogenase (ubiquinone) activity
Process
metabolic process
oxidation reduction
Cellular Location
  1. Peripheral membrane protein
  2. Mitochondrion inner membrane
  3. Matrix side
Gene Properties
Chromosome Location 11
Locus 11q13
SNPs NDUFV1
Gene Sequence
>1395 bp
ATGCTGGCAACACGGCGGCTGCTCGGCTGGTCGCTTCCCGCGCGGGTATCTGTGCGTTTC
AGCGGCGACACGACAGCACCCAAGAAAACCTCATTTGGCTCGCTGAAGGATGAAGACCGG
ATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGCTGAAAGGTTCCCTGAGTCGAGGT
GACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATC
AAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGC
TTCATGAATAAGCCCTCAGATGGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGG
GAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAA
GGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGG
GAATTCTACAATGAGGCCTCCAATCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGT
CTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGG
GCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAG
GGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGAGTGTTTGGCTGCCCCACA
ACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACC
TGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGC
CATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATT
GAGAAGCATGCTGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGC
GGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGAT
GCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCG
ACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGC
CAGTGTACCCCATGCCGTGAGGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTG
AGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAA
GGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGGTCTGATCCGC
CACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGG
CAGGCTGCCTCTTAG
Protein Properties
Number of Residues 464
Molecular Weight 49867.66
Theoretical pI 8.204
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRG
DWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEG
EPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAG
LIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELI
EKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRS
TDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS
GenBank ID Protein 3095113
UniProtKB/Swiss-Prot ID P49821
UniProtKB/Swiss-Prot Entry Name NDUV1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF053070
GeneCard ID NDUFV1
GenAtlas ID NDUFV1
HGNC ID HGNC:7716
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9543-8. [PubMed:10931946 ]
  3. Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA: The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem. 2003 Apr 18;278(16):13619-22. Epub 2003 Feb 28. [PubMed:12611891 ]
  4. Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A: Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet. 2001 Jun;68(6):1344-52. Epub 2001 May 7. [PubMed:11349233 ]
  5. de Coo RF, Buddiger PA, Smeets HJ, van Oost BA: The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. Mamm Genome. 1999 Jan;10(1):49-53. [PubMed:9892733 ]
  6. Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L: Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? Biochem Biophys Res Commun. 1998 Apr 17;245(2):599-606. [PubMed:9571201 ]
  7. Spencer SR, Taylor JB, Cowell IG, Xia CL, Pemble SE, Ketterer B: The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. Genomics. 1992 Dec;14(4):1116-8. [PubMed:1478657 ]
  8. Ali ST, Duncan AM, Schappert K, Heng HH, Tsui LC, Chow W, Robinson BH: Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. Genomics. 1993 Nov;18(2):435-9. [PubMed:8288251 ]
  9. Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L: Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet. 1999 Mar;21(3):260-1. [PubMed:10080174 ]