NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

2016-01-01  

Identity

HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
CGI-65,CGI65,CIA30,MC1DN11

Other Information

Locus ID:

NCBI: 51103
MIM: 606934
HGNC: 18828
Ensembl: ENSG00000137806

Variants:

dbSNP: 51103
ClinVar: 51103
TCGA: ENSG00000137806
COSMIC: NDUFAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137806ENST00000260361Q9Y375
ENSG00000137806ENST00000260361A0A024R9L0
ENSG00000137806ENST00000558719H0YNN4
ENSG00000137806ENST00000559127H0YL22
ENSG00000137806ENST00000560978H0YNB7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175570762007Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.57
173444202007Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.54
162189612005Human mitochondrial complex I assembly is mediated by NDUFAF1.39
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
173839182007Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
257141302015Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.10
249637682016Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.3

Citation

Dessen P

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55596/ndufaf1