NDUFAF1

NDUFAF1

Identifiers

NDUFAF1, CGI65, CIA30, CGI-65, NADH:ubiquinone oxidoreductase complex assembly factor 1

External IDs

MGI: 1916952 HomoloGene: 32289 GeneCards: NDUFAF1

Gene location (Human)

Chr.	Chromosome 15 (human)^[1]

Band	No data available	Start	41,387,349 bp^[1]
Band	No data available	End	41,402,519 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	No data available	Start	119,655,446 bp^[2]
Band	No data available	End	119,662,827 bp^[2]

RNA expression pattern

More reference expression data

Gene ontology
Molecular function	• unfolded protein binding • protein binding
Cellular component	• mitochondrial inner membrane • mitochondrial respiratory chain complex I • mitochondrion • cytosol
Biological process	• protein complex assembly • mitochondrial electron transport, NADH to ubiquinone • mitochondrial respiratory chain complex I assembly
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse


51103


69702


ENSG00000137806


ENSMUSG00000027305


Q9Y375


Q9CWX2

RefSeq (mRNA)


NM_016013


NM_027175

RefSeq (protein)


NP_057097


NP_081451

Location (UCSC)

Chr 15: 41.39 – 41.4 Mb

Chr 15: 119.66 – 119.66 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

Complex I intermediate-associated protein 30, mitochondrial is a protein that in humans is encoded by the NDUFAF1 gene.^[5]^[6]^[7]

The CIA30 gene encodes a human homolog of a Neurospora crassa protein involved in the assembly of complex I.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000137806 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027305 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 11935339. doi:10.1007/s00439-001-0673-3.
↑ 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. PMC 310876 . PMID 10810093. doi:10.1101/gr.10.5.703.
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. PMID 9769214. doi:10.1006/jmbi.1998.2114.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
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. PMID 16189514. doi:10.1038/nature04209.
Vogel RO, Janssen RJ, Ugalde C, et al. (2005). "Human mitochondrial complex I assembly is mediated by NDUFAF1.". FEBS J. 272 (20): 5317–26. PMID 16218961. doi:10.1111/j.1742-4658.2005.04928.x.
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. PMC 1820902 . PMID 17344420. doi:10.1101/gad.408407.
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. PMC 1847948 . PMID 17353931. doi:10.1038/msb4100134.
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. PMID 17383918. doi:10.1016/j.ymgme.2007.02.007.
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. PMC 1914096 . PMID 17557076. doi:10.1038/sj.emboj.7601748.

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