NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial

NameNADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Synonyms
  • 1.6.5.3
  • CI-75kD
  • Complex I-75kD
Gene NameNDUFS1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000984|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
VEEPSIC
Number of residues727
Molecular Weight79466.77
Theoretical pI6.11
GO Classification
Functions
  • iron-sulfur cluster binding
  • NADH dehydrogenase (ubiquinone) activity
  • 2 iron, 2 sulfur cluster binding
  • metal ion binding
  • electron carrier activity
  • 4 iron, 4 sulfur cluster binding
Processes
  • regulation of mitochondrial membrane potential
  • ATP metabolic process
  • mitochondrial electron transport, NADH to ubiquinone
  • apoptotic mitochondrial changes
  • cellular respiration
  • reactive oxygen species metabolic process
  • small molecule metabolic process
  • cellular metabolic process
  • respiratory electron transport chain
Components
  • mitochondrial intermembrane space
  • mitochondrion
  • mitochondrial matrix
  • myelin sheath
  • 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). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID38079
UniProtKB IDP28331
UniProtKB Entry NameNDUS1_HUMAN
Cellular LocationMitochondrion inner membrane
Gene sequence
>lcl|BSEQ0010346|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (NDUFS1)
ATGTTAAGGATACCTGTAAGAAAGGCCTTAGTAGGCCTTTCTAAGTCTCCTAAAGGATGT
GTTCGAACAACTGCCACAGCAGCAAGCAACTTGATTGAAGTATTTGTTGATGGTCAGTCT
GTCATGGTGGAACCGGGAACGACCGTCCTCCAAGTTGTAGCTGCTTGTGCCATGCCAGTA
ATGAAGGGTTGGAATATCCTAACAAACTCAGAAAAATCCAAAAAAGCCAGGGAAGGTGTG
ATGGAGTTCTTATTAGCAAATCACCCATTGGACTGTCCTATTTGTGACCAGGGAGGTGAA
TGTGATCTGCAGGACCAGTCCATGATGTTTGGAAATGATAGGAGCCGATTTTTAGAGGGG
AAGCGTGCTGTGGAAGACAAGAACATTGGGCCATTGGTAAAGACCATCATGACAAGATGT
ATACAGTGTACTCGCTGCATCAGGTTTGCAAGTGAGATTGCAGGAGTAGATGATTTGGGA
ACAACAGGCAGAGGAAATGATATGCAAGTTGGCACATACATTGAAAAGATGTTCATGTCT
GAACTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTAT
GCCTTTACTGCCCGGCCTTGGGAAACAAGAAAGACAGAATCCATTGATGTAATGGATGCG
GTTGGAAGTAATATTGTGGTTAGCACAAGAACTGGAGAAGTGATGAGGATTTTGCCACGT
ATGCATGAGGACATCAATGAAGAGTGGATCTCTGATAAAACCAGATTTGCCTATGATGGG
CTAAAACGTCAAAGACTTACCGAGCCAATGGTCAGAAATGAAAAAGGGCTTTTAACCTAT
ACTTCTTGGGAGGATGCGCTCTCTCGCGTAGCTGGAATGTTGCAGAGTTTTCAAGGCAAA
GATGTGGCAGCAATTGCAGGTGGCTTGGTGGATGCTGAAGCCCTGGTAGCTCTCAAAGAT
TTGCTTAATAGAGTGGACTCTGACACCTTATGCACTGAAGAGGTCTTCCCCACTGCAGGA
GCTGGCACAGATTTGCGTTCCAATTATCTTCTTAATACTACAATTGCTGGTGTGGAAGAG
GCAGATGTTGTTCTTCTGGTTGGTACAAACCCACGTTTTGAGGCACCACTGTTTAATGCT
AGAATTCGAAAGAGCTGGCTGCATAATGACTTAAAAGTGGCCCTTATAGGCAGTCCAGTG
GACCTCACTTACACATATGACCACCTGGGAGACTCCCCCAAAATTCTTCAAGACATTGCT
TCGGGAAGCCATCCATTTAGCCAGGTCCTAAAGGAAGCTAAAAAACCAATGGTGGTTTTA
GGCAGTTCTGCACTCCAAAGAAATGATGGAGCAGCAATTCTTGCAGCTGTTTCTAGCATT
GCACAAAAGATTCGGATGACTAGTGGTGTTACTGGTGATTGGAAAGTTATGAATATCCTT
CATAGGATTGCAAGTCAAGTAGCTGCTTTGGACCTTGGCTATAAGCCTGGGGTGGAAGCA
ATTCGGAAGAACCCTCCCAAGGTGCTGTTTCTCCTGGGAGCAGATGGAGGTTGTATCACA
CGACAGGATTTGCCAAAGGATTGTTTCATTATTTATCAAGGACATCATGGTGATGTTGGG
GCTCCCATAGCTGATGTTATTCTCCCAGGAGCTGCTTACACAGAGAAGTCTGCTACATAT
GTCAACACTGAGGGTAGAGCTCAGCAGACTAAGGTAGCAGTGACACCTCCTGGCTTGGCA
AGAGAAGACTGGAAAATTATAAGAGCACTCTCTGAGATTGCTGGAATGACTCTTCCATAT
GATACTCTGGATCAAGTAAGGAACAGATTGGAAGAAGTCTCTCCTAATCTTGTTCGATAT
GATGATATTGAAGGGGCTAATTACTTCCAGCAAGCAAATGAGCTCTCAAAGCTAGTGAAC
CAGCAGCTTCTTGCTGACCCACTTGTTCCACCTCAGCTAACTATAAAAGACTTCTACATG
ACAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAG
GGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGA
GenBank Gene IDX61100
GeneCard IDNot Available
GenAtlas IDNDUFS1
HGNC IDHGNC:7707
Chromosome Location2
Locus2q33-q34
References
  1. Chow W, Ragan I, Robinson BH: Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. Eur J Biochem. 1991 Nov 1;201(3):547-50. 1935949
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  3. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 15815621
  4. 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. 15489334
  5. 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
  6. 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
  7. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  8. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. 25944712
  9. 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. 11349233
  10. Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS: Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012 Apr;49(4):234-41. doi: 10.1136/jmedgenet-2012-100836. 22499341