NDUFV1

From Wikipedia, the free encyclopedia

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

Identifiers

External IDs

OMIM: 161015 MGI: 107851 HomoloGene: 5151

Gene ontology
Molecular Function:	• NADH dehydrogenase activity • iron ion binding • NADH dehydrogenase (ubiquinone) activity • FMN binding • metal ion binding • NAD binding • 4 iron, 4 sulfur cluster binding
Cellular Component:	• membrane fraction • mitochondrion • mitochondrial inner membrane
Biological Process:	• mitochondrial electron transport, NADH to ubiquinone

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_007103 (mRNA)
NP_009034 (protein)

NM_133666 (mRNA)
NP_598427 (protein)

Location

Chr 11: 67.13 - 67.14 Mb

Chr 19: 4.01 - 4.01 Mb

Pubmed search

[1]

[2]

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa, also known as NDUFV1, is a human gene.^[1]

The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa.

[edit] Further reading

Spencer SR, Taylor JB, Cowell IG, et al. (1993). "The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.". Genomics 14 (4): 1116-8. PMID 1478657.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.
Ali ST, Duncan AM, Schappert K, et al. (1994). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.". Genomics 18 (2): 435-9. doi:10.1006/geno.1993.1493. PMID 8288251.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149.
Schuelke M, Loeffen J, Mariman E, et al. (1998). "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. 245 (2): 599-606. doi:10.1006/bbrc.1998.8486. PMID 9571201.
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.
de Coo RF, Buddiger PA, Smeets HJ, van Oost BA (1999). "The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.". Mamm. Genome 10 (1): 49-53. PMID 9892733.
Schuelke M, Smeitink J, Mariman E, et al. (1999). "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.". Nat. Genet. 21 (3): 260-1. doi:10.1038/6772. PMID 10080174.
Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543-8. doi:10.1073/pnas.160270997. PMID 10931946.
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.
Brenner M, Johnson AB, Boespflug-Tanguy O, et al. (2001). "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.". Nat. Genet. 27 (1): 117-20. doi:10.1038/83679. PMID 11138011.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
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.
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.