NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7)

2014-08-01  

Identity

HGNC
LOCATION
2p22.2
LOCUSID
ALIAS
C2orf56,MidA,PRO1853
FUSION GENES

Other Information

Locus ID:

NCBI: 55471
MIM: 615898
HGNC: 28816
Ensembl: ENSG00000003509

Variants:

dbSNP: 55471
ClinVar: 55471
TCGA: ENSG00000003509
COSMIC: NDUFAF7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000003509ENST00000002125Q7L592
ENSG00000003509ENST00000336237Q7L592
ENSG00000003509ENST00000416653C9JEL7
ENSG00000003509ENST00000431821C9J236
ENSG00000003509ENST00000432075C9JP36
ENSG00000003509ENST00000439218C9JS27
ENSG00000003509ENST00000441905H7C3N5
ENSG00000003509ENST00000455230B4E0W7

Expression (GTEx)

0
10
20
30
40
50
60
70

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
240895312013NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
248383972014The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.16
204068832010MidA is a putative methyltransferase that is required for mitochondrial complex I function.13
288377302017A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.4

Citation

Dessen P

NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54495/ndufaf7