NDUFV1

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NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
Identifiers
Symbols NDUFV1 ; CI-51K; CI51KD; UQOR1
External IDs OMIM161015 MGI107851 HomoloGene5151 GeneCards: NDUFV1 Gene
EC number 1.6.5.3, 1.6.99.3
RNA expression pattern
PBB GE NDUFV1 208714 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4723 17995
Ensembl ENSG00000167792 ENSMUSG00000037916
UniProt P49821 Q91YT0
RefSeq (mRNA) NM_001166102 NM_133666
RefSeq (protein) NP_001159574 NP_598427
Location (UCSC) Chr 11:
67.37 – 67.38 Mb
Chr 19:
4.01 – 4.01 Mb
PubMed search [1] [2]

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial is an enzyme that in humans is encoded by the NDUFV1 gene.[1][2]

The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[2]

Clinical significance[edit]

Mutations in the NDUFV1 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.[3][4] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.[5] However, the majority of cases are caused by mutations in nuclear-encoded genes.[6][7] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.[8]

References[edit]

  1. ^ Spencer SR, Taylor JB, Cowell IG, Xia CL, Pemble SE, Ketterer B (Dec 1992). "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. doi:10.1016/S0888-7543(05)80144-2. PMID 1478657. 
  2. ^ a b "Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa". 
  3. ^ Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM et al. (Sep 2004). "NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency". The Journal of Clinical Investigation 114 (6): 837–45. doi:10.1172/JCI20683. PMID 15372108. 
  4. ^ McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ et al. (Jan 2004). "De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency". Annals of Neurology 55 (1): 58–64. doi:10.1002/ana.10787. PMID 14705112. 
  5. ^ Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M et al. (Apr 2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing". Journal of Medical Genetics 49 (4): 277–83. doi:10.1136/jmedgenet-2012-100846. PMID 22499348. 
  6. ^ Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC et al. (2000). "Isolated complex I deficiency in children: clinical, biochemical and genetic aspects". Human Mutation 15 (2): 123–34. doi:10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID 10649489. 
  7. ^ Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA (2001). "Respiratory chain complex I deficiency". American Journal of Medical Genetics 106 (1): 37–45. doi:10.1002/ajmg.1397. PMID 11579423. 
  8. ^ Robinson BH (May 1998). "Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect". Biochimica Et Biophysica Acta 1364 (2): 271–86. PMID 9593934. 

Further reading[edit]

  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Ali ST, Duncan AM, Schappert K, Heng HH, Tsui LC, Chow W et al. (Nov 1993). "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, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L (Apr 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?". Biochemical and Biophysical Research Communications 245 (2): 599–606. doi:10.1006/bbrc.1998.8486. PMID 9571201. 
  • Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ et al. (Dec 1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochemical and Biophysical Research Communications 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551. 
  • de Coo RF, Buddiger PA, Smeets HJ, van Oost BA (Jan 1999). "The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I". Mammalian Genome 10 (1): 49–53. doi:10.1007/s003359900941. PMID 9892733. 
  • Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F et al. (Mar 1999). "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy". Nature Genetics 21 (3): 260–1. doi:10.1038/6772. PMID 10080174. 
  • Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX et al. (Aug 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946. 
  • Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich MF, Smeitink JA et al. (Mar 2001). "Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns". The Journal of Biological Chemistry 276 (12): 8892–7. doi:10.1074/jbc.M009903200. PMID 11112787. 
  • Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (Jan 2001). "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease". Nature Genetics 27 (1): 117–20. doi:10.1038/83679. PMID 11138011. 
  • Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A et al. (Jun 2001). "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency". American Journal of Human Genetics 68 (6): 1344–52. doi:10.1086/320603. PMC 1226121. PMID 11349233. 
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N et al. (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.