NDUFS1
| NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | NDUFS1 ; CI-75Kd; MGC26839; PRO1304 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 3670 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE NDUFS1 203039 s at tn.png | |||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
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NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), also known as NDUFS1, is a human gene.[1]
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein 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. Mutations in this gene are associated with complex I deficiency.[1]
References
Further reading
- Duncan AM, Chow W, Robinson BH (1992). "Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34". Cytogenet. Cell Genet. 60 (3–4): 212–3. PMID 1505218.
- Chow W, Ragan I, Robinson BH (1991). "Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase". Eur. J. Biochem. 201 (3): 547–50. PMID 1935949.
- Sumegi B, Srere PA (1985). "Complex I binds several mitochondrial NAD-coupled dehydrogenases". J. Biol. Chem. 259 (24): 15040–5. PMID 6439716.
- Loeffen JL, Triepels RH, van den Heuvel LP; et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
- Bénit P, Chretien D, Kadhom N; et al. (2001). "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency". Am. J. Hum. Genet. 68 (6): 1344–52. PMID 11349233.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Ricci JE, Muñoz-Pinedo C, Fitzgerald P; et al. (2004). "Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain". Cell. 117 (6): 773–86. doi:10.1016/j.cell.2004.05.008. PMID 15186778.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Hillier LW, Graves TA, Fulton RS; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
- Martín MA, Blázquez A, Gutierrez-Solana LG; et al. (2005). "Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene". Arch. Neurol. 62 (4): 659–61. doi:10.1001/archneur.62.4.659. PMID 15824269.
- Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Iuso A, Scacco S, Piccoli C; et al. (2006). "Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.". J. Biol. Chem. 281 (15): 10374–80. doi:10.1074/jbc.M513387200. PMID 16478720.
- Piccoli C, Scacco S, Bellomo F; et al. (2006). "cAMP controls oxygen metabolism in mammalian cells". FEBS Lett. 580 (18): 4539–43. doi:10.1016/j.febslet.2006.06.085. PMID 16870178.
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