Gene Symbol: NDUFAF1
Description: NADH:ubiquinone oxidoreductase complex assembly factor 1
Alias: CGI-65, CGI65, CIA30, complex I intermediate-associated protein 30, mitochondrial, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, NADH dehydrogenase (ubiquinone) complex I, assembly factor 1, NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1
Species: human
Products:     NDUFAF1

Top Publications

  1. van den Ecker D, van den Brand M, Ariaans G, Hoffmann M, Bossinger O, Mayatepek E, et al. Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans. Mitochondrion. 2012;12:399-405 pubmed publisher
    ..We demonstrate that two candidates (C50B8.3/NUAF-1, homologue of NDUFAF1 and R07H5.3/NUAF-3, homologue of NDUFAF3) clearly affect complex I function...
  2. Guo J, Wang W, Li L, Yang S, Wang J. The role of metallothionein in a dinitrofluorobenzene-induced atopic dermatitis-like murine model. Sci Rep. 2018;8:11129 pubmed publisher
    ..edema scores, thickness, lesional skin weight, as well as more CD4+ T cells, TSLP, superoxide dismutase, and NDUFAF1. These results suggest that MT may play a protective role against AD development, and that antioxidant and ..
  3. Kim S, Lee S, Nai Y, Yu J, Lee M, Yang Y, et al. Characterization of T-DNA insertion mutants with decreased virulence in the entomopathogenic fungus Beauveria bassiana JEF-007. Appl Microbiol Biotechnol. 2016;100:8889-900 pubmed publisher
    ..Genes encoding complex I intermediate-associated protein 30 (CIA30) and the autophagy protein (Atg22) were possibly disrupted by the T-DNA insertion and might be involved in the ..
  4. Cho J, Hur J, Graniel J, Benzer S, Walker D. Expression of yeast NDI1 rescues a Drosophila complex I assembly defect. PLoS ONE. 2012;7:e50644 pubmed publisher
    ..We show that CG7598 (dCIA30), the Drosophila homolog of human complex I assembly factor Ndufaf1, is necessary for proper complex I assembly...
  5. Lindfors C, Katz A, Selander L, Johansen J, Marconi G, Schalling M, et al. Glucose intolerance and pancreatic β-cell dysfunction in the anorectic anx/anx mouse. Am J Physiol Endocrinol Metab. 2015;309:E418-27 pubmed publisher
    ..complex I (CI) assembly factor, NADH dehydrogenase (ubiquinone) 1α subcomplex, assembly factor 1 (Ndufaf1), and a reduced CI activity...
  6. Alston C, Compton A, Formosa L, Strecker V, Oláhová M, Haack T, et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016;99:217-27 pubmed publisher
    ..TMEM126B as a component of the mitochondrial complex I assembly complex alongside proteins ACAD9, ECSIT, NDUFAF1, and TIMMDC1...
  7. Wang P, Song M, Zeng Z, Zhu C, Lu W, Yang J, et al. Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach. Oncotarget. 2015;6:3947-62 pubmed
    ..NADH dehydrogenase 1 alpha subcomplex assembly factor 1 (NDUFAF1) showed most significant decrease by 50%. Such decrease was validated in primary human pancreatic cancer tissues...
  8. Carden T, Singh B, Mooga V, Bajpai P, Singh K. Epigenetic modification of miR-663 controls mitochondria-to-nucleus retrograde signaling and tumor progression. J Biol Chem. 2017;292:20694-20706 pubmed publisher
    ..miR-663 also controlled the expression of the Complexes I (NDUFAF1), II (SDHAF2), III (UQCC2), and IV (SCO1) assembly factors and was required for stability of respiratory ..
  9. Vogel R, Janssen R, van den Brand M, Dieteren C, Verkaart S, Koopman W, et al. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev. 2007;21:615-24 pubmed
    ..An N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1 in 500- to 850-kDa complexes as demonstrated by affinity purification and vice versa RNA interference (RNAi) ..

More Information


  1. Vogel R, van den Brand M, Rodenburg R, van den Heuvel L, Tsuneoka M, Smeitink J, et al. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. Mol Genet Metab. 2007;91:176-82 pubmed
    ..Recently, CI assembly chaperones NDUFAF1 and B17.2L were linked to CI deficiency, but it is still unclear by which mechanism...
  2. McKenzie M, Ryan M. Assembly factors of human mitochondrial complex I and their defects in disease. IUBMB Life. 2010;62:497-502 pubmed publisher
    ..Defects in assembly factors which disrupt complex I assembly and contribute to human disease pathogenesis will also be discussed. ..
  3. Fassone E, Taanman J, Hargreaves I, Sebire N, Cleary M, Burch M, et al. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011;48:691-7 pubmed publisher
    ..The authors' objective is to report two heterozygous missense mutations in the NDUFAF1 gene as a cause of fatal infantile HCM in a patient with isolated complex I deficiency...
  4. Vogel R, Janssen R, Ugalde C, Grovenstein M, Huijbens R, Visch H, et al. Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J. 2005;272:5317-26 pubmed
    ..A good candidate is NDUFAF1, the human homologue of Neurospora crassa complex I chaperone CIA30...
  5. Dunning C, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, et al. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. EMBO J. 2007;26:3227-37 pubmed
    ..Genetic analysis revealed the patient had mutations in both alleles of the NDUFAF1 gene that encodes CIA30...
  6. Nouws J, Nijtmans L, Houten S, van den Brand M, Huynen M, Venselaar H, et al. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab. 2010;12:283-94 pubmed publisher
    ..ACAD9 binds complex I assembly factors NDUFAF1 and Ecsit and is specifically required for the assembly of complex I...
  7. Janssen R, Smeitink J, Smeets R, Van Den Heuvel L. CIA30 complex I assembly factor: a candidate for human complex I deficiency?. Hum Genet. 2002;110:264-70 pubmed
    ..We have characterized the human homologue of one of these two complex I intermediate associated proteins, named CIA30, and show that expression of the human CIA30 protein is ubiquitous with a slightly higher expression in various ..
  8. Wu L, Peng J, Ma Y, He F, Deng X, Wang G, et al. Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27:1034-7 pubmed publisher
    ..278A > G; c.247G > A) within exon 2 in the NDUFAF1 gene, his parents carried a heterozygous mutation each...
  9. Küffner R, Rohr A, Schmiede A, Krull C, Schulte U. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). J Mol Biol. 1998;283:409-17 pubmed
    ..These results indicate that the two proteins are novel chaperones specific for complex I membrane arm assembly. ..