NDUFB6

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
Identifiers
Symbols	NDUFB6; B17; CI; MGC13675
External IDs	OMIM: 603322 MGI: 2684983 HomoloGene: 1864 GeneCards: NDUFB6 Gene
Gene Ontology Molecular function • NADH dehydrogenase (ubiquinone) activity Cellular component • mitochondrion • mitochondrial inner membrane • mitochondrial respiratory chain complex I • mitochondrial respiratory chain complex I • membrane • integral to membrane • mitochondrial membrane • respiratory chain Biological process • mitochondrial electron transport, NADH to ubiquinone • transport • respiratory electron transport chain Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4712	230075
Ensembl	ENSG00000165264	ENSMUSG00000071014
UniProt	O95139	Q3UIU2
RefSeq (mRNA)	NM_001199987.1	NM_001033305.2
RefSeq (protein)	NP_001186916.1	NP_001028477.1
Location (UCSC)	Chr 9: 32.55 – 32.57 Mb	Chr 4: 40.22 – 40.23 Mb
PubMed search	[1]	[2]

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 also known as complex I-B17 is a protein that in humans is encoded by the NDUFB6 gene.^[1][2][3]

Function

The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I) that is not directly involved in catalysis. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein complex has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.^[3]

References

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. ^ Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L (Oct 1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I". Hum Genet 103 (2): 245–50. doi:10.1007/s004390050813. PMID 9760212. 
3. ^ ^{a b} "Entrez Gene: NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4712. 

Further reading

• Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease.". Am. J. Hum. Genet. 64 (6): 1505–10. doi:10.1086/302432. PMC 1377894. PMID 10330338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377894. 
• Earley FG, Ragan CI (1981). "Identification of the subunits of bovine heart mitochondrial NADH dehydrogenase that are exposed to the phospholipid bilayer by photo-labelling with 5-iodonaphth-1-yl azide.". Biochem. J. 191 (2): 429–36. PMC 1162233. PMID 7236204. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1162233. 
• 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. 
• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310934. 
• 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. doi:10.1086/320603. PMC 1226121. PMID 11349233. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226121. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. 
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2734081. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Vogel RO, Dieteren CE, van den Heuvel LP, et al. (2007). "Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.". J. Biol. Chem. 282 (10): 7582–90. doi:10.1074/jbc.M609410200. PMID 17209039.