NDUFS4

From Wikipedia, the free encyclopedia

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)

Identifiers

External IDs

OMIM: 602694 MGI: 1343135 HomoloGene: 1866

Gene ontology
Molecular Function:	• NADH dehydrogenase activity • NADH dehydrogenase (ubiquinone) activity
Cellular Component:	• membrane fraction • mitochondrion • mitochondrial respiratory chain complex I
Biological Process:	• mitochondrial electron transport, NADH to ubiquinone

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002495 (mRNA)
NP_002486 (protein)

NM_010887 (mRNA)
NP_035017 (protein)

Location

Chr 5: 52.89 - 53.01 Mb

Chr 13: 115.41 - 115.51 Mb

Pubmed search

[1]

[2]

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase), also known as NDUFS4, is a human gene.^[1]

Complex I, or NADH:ubiquinone oxidoreductase, the first multisubunit enzyme complex of the mitochondrial respiratory chain, plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome (ND1-6, ND4L) and the remainder by nuclear genes (van den Heuvel et al., 1998).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase).

[edit] Further reading

Papa S, Sardanelli AM, Scacco S, et al. (2003). "The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade.". J. Bioenerg. Biomembr. 34 (1): 1–10. PMID 11860175.
Pilkington SJ, Skehel JM, Gennis RB, Walker JE (1991). "Relationship between mitochondrial NADH-ubiquinone reductase and a bacterial NAD-reducing hydrogenase.". Biochemistry 30 (8): 2166–75. PMID 1900194.
van den Heuvel L, Ruitenbeek W, Smeets R, et al. (1998). "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.". Am. J. Hum. Genet. 62 (2): 262–8. PMID 9463323.
Emahazion T, Beskow A, Gyllensten U, Brookes AJ (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.". Cytogenet. Cell Genet. 82 (1-2): 115–9. PMID 9763677.
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.
Triepels RH, Hanson BJ, van den Heuvel LP, et al. (2001). "Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.". J. Biol. Chem. 276 (12): 8892–7. doi:10.1074/jbc.M009903200. PMID 11112787.
Papa S, Scacco S, Sardanelli AM, et al. (2001). "Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.". FEBS Lett. 489 (2-3): 259–62. PMID 11165261.
Petruzzella V, Vergari R, Puzziferri I, et al. (2001). "A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.". Hum. Mol. Genet. 10 (5): 529–35. PMID 11181577.
Roef MJ, Reijngoud DJ, Jeneson JA, et al. (2002). "Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency.". Neurology 58 (7): 1088–93. PMID 11940698.
Lee BH, Lee H, Xiong L, Zhu JK (2002). "A mitochondrial complex I defect impairs cold-regulated nuclear gene expression.". Plant Cell 14 (6): 1235–51. PMID 12084824.
Papa S (2002). "The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade.". Biochim. Biophys. Acta 1555 (1-3): 147–53. PMID 12206907.
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.
Bénit P, Steffann J, Lebon S, et al. (2003). "Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.". Hum. Genet. 112 (5-6): 563–6. doi:10.1007/s00439-002-0884-2. PMID 12616398.
Scacco S, Petruzzella V, Budde S, et al. (2004). "Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.". J. Biol. Chem. 278 (45): 44161–7. doi:10.1074/jbc.M307615200. PMID 12944388.
Budde SM, van den Heuvel LP, Smeets RJ, et al. (2004). "Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.". J. Inherit. Metab. Dis. 26 (8): 813–5. PMID 14765537.
Papa S, Petruzzella V, Scacco S, et al. (2004). "Respiratory complex I in brain development and genetic disease.". Neurochem. Res. 29 (3): 547–60. PMID 15038602.
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.
Petruzzella V, Panelli D, Torraco A, et al. (2005). "Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.". FEBS Lett. 579 (17): 3770–6. doi:10.1016/j.febslet.2005.05.035. PMID 15975579.
Tao WA, Wollscheid B, O'Brien R, et al. (2005). "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry.". Nat. Methods 2 (8): 591–8. doi:10.1038/nmeth776. PMID 16094384.