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
288377302017A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.15
288377302017A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.15
248383972014The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.34
248383972014The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.34
240895312013NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.48
240895312013NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.48
204068832010MidA is a putative methyltransferase that is required for mitochondrial complex I function.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
204068832010MidA is a putative methyltransferase that is required for mitochondrial complex I function.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

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-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-7)