NDUFAF1
| NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | NDUFAF1 ; CGI-65; CGI65; CIA30 | ||||||||||||
| External IDs | OMIM: 606934 MGI: 1916952 HomoloGene: 32289 GeneCards: NDUFAF1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 51103 | 69702 | |||||||||||
| Ensembl | ENSG00000137806 | ENSMUSG00000027305 | |||||||||||
| UniProt | Q9Y375 | Q9CWX2 | |||||||||||
| RefSeq (mRNA) | NM_016013 | NM_027175 | |||||||||||
| RefSeq (protein) | NP_057097 | NP_081451 | |||||||||||
| Location (UCSC) |
Chr 15: 41.39 – 41.4 Mb |
Chr 2: 119.66 – 119.66 Mb | |||||||||||
| PubMed search | |||||||||||||
Complex I intermediate-associated protein 30, mitochondrial is a protein that in humans is encoded by the NDUFAF1 gene.[1][2][3]
The CIA30 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I.[3]
References
- ↑ Janssen R, Smeitink J, Smeets R, van Den Heuvel L (Apr 2002). "CIA30 complex I assembly factor: a candidate for human complex I deficiency?". Hum Genet 110 (3): 264–70. doi:10.1007/s00439-001-0673-3. PMID 11935339.
- ↑ Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (Aug 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
- 1 2 "Entrez Gene: NDUFAF1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1".
Further reading
- Küffner R, Rohr A, Schmiede A, et al. (1998). "Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).". J. Mol. Biol. 283 (2): 409–17. doi:10.1006/jmbi.1998.2114. PMID 9769214.
- 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.
- 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.
- 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.
- Vogel RO, Janssen RJ, Ugalde C, et al. (2005). "Human mitochondrial complex I assembly is mediated by NDUFAF1.". FEBS J. 272 (20): 5317–26. doi:10.1111/j.1742-4658.2005.04928.x. PMID 16218961.
- Vogel RO, Janssen RJ, van den Brand MA, et al. (2007). "Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.". Genes Dev. 21 (5): 615–24. doi:10.1101/gad.408407. PMC 1820902. PMID 17344420.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Vogel RO, van den Brand MA, Rodenburg RJ, et al. (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.
- Dunning CJ, McKenzie M, Sugiana C, et al. (2007). "Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.". EMBO J. 26 (13): 3227–37. doi:10.1038/sj.emboj.7601748. PMC 1914096. PMID 17557076.
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