Property Summary

NCBI Gene PubMed Count 20
PubMed Score 12.27
PubTator Score 13.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
hepatocellular carcinoma 1.200 1.4e-04
pancreatic cancer 1.100 3.0e-02
malignant mesothelioma -1.200 1.8e-06
astrocytic glioma -1.500 2.5e-02
medulloblastoma, large-cell -1.300 1.0e-05
tuberculosis and treatment for 6 months -1.400 9.8e-04
pancreatic ductal adenocarcinoma liver m... -1.522 3.2e-03
pancreatic carcinoma 1.100 3.0e-02
acute myeloid leukemia -1.700 1.4e-02
ovarian cancer -1.200 4.1e-05

Synonym

Accession Q9Y375 Q9BVZ5
Symbols CGI65
CIA30
CGI-65

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

 GO Function (1)

Gene RIF (8)

PMID Text
25714130 oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras.
24963768 a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19834535 Observational study of gene-disease association. (HuGE Navigator)
17557076 CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease
17383918 the involvement of NDUFAF1 in the assembly process could be indirect rather than direct via the binding to assembly intermediates
17344420 Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1.
16218961 NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase).

AA Sequence

MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQGDHQKEVALD      1 - 70
ITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQAKVVWQFRGKEDLDKWTVTS     71 - 140
DKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRSGYCAMISRIPRGAFERKMSYDWSQFNTLYL    141 - 210
RVRGDGRPWMVNIKEDTDFFQRTNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKIS    211 - 280
SIGFTLADKVDGPFFLEIDFIGVFTDPAHTEEFAYENSPELNPRLFK                           281 - 327
//

Text Mined References (23)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25714130 2015 Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.
24963768 2016 Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
21931170 2011 Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20816094 2010 Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
20552642 2010 Assembly factors of human mitochondrial complex I and their defects in disease.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17557076 2007 Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
17383918 2007 Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17344420 2007 Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
16218961 2005 Human mitochondrial complex I assembly is mediated by NDUFAF1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11935339 2002 CIA30 complex I assembly factor: a candidate for human complex I deficiency?
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
9769214 1998 Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).