NADH-ubiquinone oxidoreductase chain 3

NameNADH-ubiquinone oxidoreductase chain 3
Synonyms
  • 1.6.5.3
  • MTND3
  • NADH dehydrogenase subunit 3
  • NADH3
  • ND3
Gene NameMT-ND3
OrganismHuman
Amino acid sequence
>lcl|BSEQ0016033|NADH-ubiquinone oxidoreductase chain 3
MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAI
TFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE
Number of residues115
Molecular Weight13185.87
Theoretical pI4.08
GO Classification
Functions
  • NADH dehydrogenase (ubiquinone) activity
Processes
  • mitochondrial electron transport, NADH to ubiquinone
  • response to oxidative stress
  • small molecule metabolic process
  • cellular metabolic process
  • respiratory electron transport chain
  • cellular response to glucocorticoid stimulus
  • response to light intensity
Components
  • mitochondrial inner membrane
  • integral component of membrane
  • mitochondrial respiratory chain complex I
General FunctionNadh dehydrogenase (ubiquinone) activity
Specific FunctionCore 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).
Pfam Domain Function
Transmembrane Regions3-23 55-75 84-104
GenBank Protein ID506832
UniProtKB IDP03897
UniProtKB Entry NameNU3M_HUMAN
Cellular LocationMitochondrion membrane
Gene sequence
>lcl|BSEQ0016034|NADH-ubiquinone oxidoreductase chain 3 (MT-ND3)
ATAAACTTCGCCTTAATTTTAATAATCAACACCCTCCTAGCCTTACTACTAATAATTATT
ACATTTTGACTACCACAACTCAACGGCTACATAGAAAAATCCACCCCTTACGAGTGCGGC
TTCGACCCTATATCCCCCGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTATT
ACCTTCTTATTATTTGATCTAGAAATTGCCCTCCTTTTACCCCTACCATGAGCCCTACAA
ACAACTAACCTGCCACTAATAGTTATGTCATCCCTCTTATTAATCATCATCCTAGCCCTA
AGTCTGGCCTATGAGTGACTACAAAAAGGATTAGACTGAACCGAAT
GenBank Gene IDJ01415
GeneCard IDNot Available
GenAtlas IDMT-ND3
HGNC IDHGNC:7458
Chromosome LocationNot Available
Locus-
References
  1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. 7219534
  2. Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. 12949126
  3. Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. 11130070
  4. Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. 12840039
  5. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. 14760490
  6. Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G: Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature. 1985 Apr 18-24;314(6012):592-7. 3921850
  7. 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. 12611891
  8. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  9. Oliver NA, Greenberg BD, Wallace DC: Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy. J Biol Chem. 1983 May 10;258(9):5834-9. 6343397
  10. Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. 1757091
  11. Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM: Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol. 2001 Jul;50(1):104-7. 11456298
  12. McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR: De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol. 2004 Jan;55(1):58-64. 14705112
  13. Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V: A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A. 2007 Jan 1;143A(1):33-41. 17152068
  14. Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK: High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. 20818383