NDUFA1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Identifiers
Symbols	NDUFA1 ; CI-MWFE; MWFE; ZNF183
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3337
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE NDUFA1 202298 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa, also known as NDUFA1, is a human gene.

The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function.

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. PMID 10330338.
• Tretter L, Sipos I, Adam-Vizi V (2004). "Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease". Neurochem. Res. 29 (3): 569–77. PMID 15038604.CS1 maint: Multiple names: authors list (link)
• Zhuchenko O, Wehnert M, Bailey J; et al. (1997). "Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.". Genomics. 37 (3): 281–8. doi:10.1006/geno.1996.0561. PMID 8938439.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Frattini A, Faranda S, Bagnasco L; et al. (1997). "Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25". Gene. 192 (2): 291–8. PMID 9224902.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Au HC, Seo BB, Matsuno-Yagi A; et al. (1999). "The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria". Proc. Natl. Acad. Sci. U.S.A. 96 (8): 4354–9. PMID 10200266.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yadava N, Potluri P, Smith EN; et al. (2002). "Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.". J. Biol. Chem. 277 (24): 21221–30. doi:10.1074/jbc.M202016200. PMID 11937507.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Man PY, Brown DT, Wehnert MS; et al. (2002). "NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy". Neurology. 58 (12): 1861–2. PMID 12084895.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mamelak AJ, Kowalski J, Murphy K; et al. (2005). "Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma". Exp. Dermatol. 14 (5): 336–48. doi:10.1111/j.0906-6705.2005.00278.x. PMID 15854127.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fernandez-Moreira D, Ugalde C, Smeets R; et al. (2007). "X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy". Ann. Neurol. 61 (1): 73–83. doi:10.1002/ana.21036. PMID 17262856.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)