NDUFAF2 is located on the q arm of chromosome 5 in position 12.1.[5] The NDUFAF2 gene produces a 20 kDa protein composed of 169 amino acids.[8][9] The protein is a chaperone of the complex I NDUFA12 subunit family.[10][11]
Function
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The NDUFAF2 gene encodes a complex I assembly factor, B17.2L, that is important for the correct function of the mitochondrial respiratory chain.[5] Specifically, B17.2L acts as a molecular chaperone, associating with an 830 kDa subassembly in the late stages of complex I assembly.[7]
In addition to co-complexes, NDUFAF2 has protein-protein interactions with CYB5B SEC22B, TMEM97, TMEM201, SPG21, LPAR3, STX8, OPTN.[14]
References
^ a b cGRCh38: Ensembl release 89: ENSG00000164182 – Ensembl, May 2017
^ a b cGRCm38: Ensembl release 89: ENSMUSG00000068184 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ a b c d"Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2". Retrieved 2018-07-23.
^Donald Voet; Judith G. Voet; Charlotte W. Pratt (2013). "18". Fundamentals of biochemistry : life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN9780470547847.
^ a b cOgilvie, Isla; Kennaway, Nancy G.; Shoubridge, Eric A. (October 2005). "A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy". The Journal of Clinical Investigation. 115 (10): 2784–2792. doi:10.1172/JCI26020. ISSN 0021-9738. PMC1236688. PMID 16200211.
^Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC4076475. PMID 23965338.
^Yao, Daniel. "Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) —— Protein Information". amino.heartproteome.org. Retrieved 2018-07-23.
^ a b"UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. 2016-11-29. doi:10.1093/nar/gkw1099. ISSN 0305-1048. PMC5210571. PMID 27899622.
^Herzer, M.; Koch, J.; Prokisch, H.; Rodenburg, R.; Rauscher, C.; Radauer, W.; Forstner, R.; Pilz, P.; Rolinski, B. (February 2010). "Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect" (PDF). Neuropediatrics. 41 (1): 30–34. doi:10.1055/s-0030-1255062. hdl:2066/87232. ISSN 1439-1899. PMID 20571988. S2CID 46175747.
^Hoefs, Saskia J. G.; Dieteren, Cindy E. J.; Rodenburg, Richard J.; Naess, Karin; Bruhn, Helene; Wibom, Rolf; Wagena, Esther; Willems, Peter H.; Smeitink, Jan A. M. (July 2009). "Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency". Human Mutation. 30 (7): E728–736. doi:10.1002/humu.21037. ISSN 1098-1004. PMID 19384974. S2CID 32746835.
^IntAct. "21 Binary interactions for NDUFAF2". IntAct. Retrieved 2018-07-23.
Further reading
Tsuneoka M, Teye K, Arima N, Soejima M, Otera H, Ohashi K, Koga Y, Fujita H, Shirouzu K, Kimura H, Koda Y (May 2005). "A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma". J. Biol. Chem. 280 (20): 19977–85. doi:10.1074/jbc.M501231200. PMID 15774466.
Vogel RO, van den Brand MA, Rodenburg RJ, van den Heuvel LP, Tsuneoka M, Smeitink JA, Nijtmans LG (June 2007). "Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients". Mol. Genet. Metab. 91 (2): 176–82. doi:10.1016/j.ymgme.2007.02.007. PMID 17383918.
Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN (December 2008). "Polymorphisms in mitochondrial genes and prostate cancer risk". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3558–66. doi:10.1158/1055-9965.EPI-08-0434. PMC2750891. PMID 19064571.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC2896464. PMID 20379614.
Chen M, Huang H, He H, Ying W, Liu X, Dai Z, Yin J, Mao N, Qian X, Pan L (August 2015). "Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines". Cancer Sci. 106 (8): 1075–83. doi:10.1111/cas.12710. PMC4556398. PMID 26033570.