NDUFAF1

From Wikipedia, the free encyclopedia

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

Identifiers

NDUFAF1; CGI-65; CGI65; CIA30

External IDs

OMIM: 606934 MGI: 1916952 HomoloGene: 32289

Gene ontology
Molecular Function:	• unfolded protein binding
Cellular Component:	• mitochondrion • mitochondrial respiratory chain complex I
Biological Process:	• mitochondrial electron transport, NADH to ubiquinone • protein folding • protein complex assembly

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_016013 (mRNA)
NP_057097 (protein)

NM_027175 (mRNA)
NP_081451 (protein)

Location

Chr 15: 39.47 - 39.48 Mb

Chr 2: 119.35 - 119.35 Mb

Pubmed search

[1]

[2]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, also known as NDUFAF1, is a human gene.^[1]

The CIA30 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: NDUFAF1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1.

[edit] 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.
Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.". Genome Res. 10 (5): 703-13. PMID 10810093.
Janssen R, Smeitink J, Smeets R, van Den Heuvel L (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.
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.
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.
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. 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: 89. doi:10.1038/msb4100134. 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. PMID 17557076.