NDUFS3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
Identifiers
Symbols NDUFS3 ; CI-30
External IDs OMIM603846 MGI1915599 HomoloGene3346 GeneCards: NDUFS3 Gene
EC number 1.6.5.3, 1.6.99.3
RNA expression pattern
PBB GE NDUFS3 201740 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4722 68349
Ensembl ENSG00000213619 ENSMUSG00000005510
UniProt O75489 Q9DCT2
RefSeq (mRNA) NM_004551 NM_026688
RefSeq (protein) NP_004542 NP_080964
Location (UCSC) Chr 11:
47.59 – 47.61 Mb
Chr 2:
90.89 – 90.9 Mb
PubMed search [1] [2]

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial is an enzyme that in humans is encoded by the NDUFS3 gene.[1][2]

Function[edit]

The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur protein (IP) fraction of complex I is made up of 7 subunits.[2]

Model organisms[edit]

Model organisms have been used in the study of NDUFS3 function. A conditional knockout mouse line, called Ndufs3tm1a(EUCOMM)Wtsi[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty five tests were carried out on mutant mice and six significant abnormalities were observed.[9] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; males had an increased lean body mass and heart weight, and a decrease in some plasma chemistry and haematology parameters.[9]

See also[edit]

References[edit]

  1. ^ Emahazion T, Beskow A, Gyllensten U, Brookes AJ (Nov 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. doi:10.1159/000015082. PMID 9763677. 
  2. ^ a b "Entrez Gene: NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)". 
  3. ^ "DEXA data for Ndufs3". Wellcome Trust Sanger Institute. 
  4. ^ "Clinical chemistry data for Ndufs3". Wellcome Trust Sanger Institute. 
  5. ^ "Haematology data for Ndufs3". Wellcome Trust Sanger Institute. 
  6. ^ "Heart weight data for Ndufs3". Wellcome Trust Sanger Institute. 
  7. ^ "Salmonella infection data for Ndufs3". Wellcome Trust Sanger Institute. 
  8. ^ "Citrobacter infection data for Ndufs3". Wellcome Trust Sanger Institute. 
  9. ^ a b c d Gerdin, AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  10. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ^ "International Knockout Mouse Consortium". 
  12. ^ "Mouse Genome Informatics". 
  13. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  14. ^ Dolgin, Elie (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  15. ^ International Mouse Knockout Consortium; Collins, FS; Rossant, J; Wurst, W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  16. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Biomarker signatures of mitochondrial NDUFS3 in invasive breast carcinoma Suhane S, Berel D and Ramanujan VK Biochem Biophys Res Commun 2011 Sep 9; 412(4): 590-595 doi: 10.1016/j.bbrc.2011.08.003. Epub 2011 Aug 16

Further reading[edit]