NDUFA5

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
Identifiers
Symbols	NDUFA5; B13; CI-13KD-B; CI-13kB; DKFZp781K1356; FLJ12147; NUFM; UQOR13
External IDs	OMIM: 601677 MGI: 1915452 HomoloGene: 3664 GeneCards: NDUFA5 Gene
Gene Ontology Molecular function • NADH dehydrogenase (ubiquinone) activity • oxidoreductase activity, acting on NADH or NADPH Cellular component • mitochondrion • mitochondrial inner membrane • mitochondrial respiratory chain complex I • mitochondrial respiratory chain complex I • 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	4698	68202
Ensembl	ENSG00000128609	ENSMUSG00000023089
UniProt	Q16718	Q9CX78
RefSeq (mRNA)	NM_005000	NM_026614.2
RefSeq (protein)	NP_004991	NP_080890.1
Location (UCSC)	Chr 7: 123.18 – 123.2 Mb	Chr 6: 24.47 – 24.48 Mb
PubMed search	[1]	[2]

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 is an enzyme that in humans is encoded by the NDUFA5 gene.^[1][2][3]

The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex.

The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble iron-sulfur protein (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes.^[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. ^ Russell MW, du Manoir S, Collins FS, Brody LC (Mar 1997). "Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15". Mamm Genome 8 (1): 60–1. doi:10.1007/s003359900350. PMID 9021153. 
3. ^ ^{a b} "Entrez Gene: NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4698. 

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. 
• Pata I, Tensing K, Metspalu A (1997). "A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13.". Biochim. Biophys. Acta 1350 (2): 115–8. PMID 9048877. 
• "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074. 
• 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. 
• Tensing K, Pata I, Wittig I, et al. (1999). "Genomic organization of the human complex I 13-kDa subunit gene NDUFA5.". Cytogenet. Cell Genet. 84 (1-2): 125–7. doi:10.1159/000015237. PMID 10343126. 
• 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. 
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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.