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Tbio Protein arginine methyltransferase NDUFAF7, mitochondrial

Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

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Property Summary

NCBI Gene PubMed Count 8
PubMed Score 1.70
PubTator Score 36.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (4)

Disease Z-score Confidence
aldosterone-producing adenoma 664
osteosarcoma 7,933
psoriasis 6,685
tuberculosis and treatment for 6 months 686

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.200 0.000
osteosarcoma -1.865 0.000
tuberculosis and treatment for 6 months -1.100 0.001
aldosterone-producing adenoma -1.096 0.018

Synonym

Accession Q7L592 Q7Z399 Q9P1G3
Symbols MidA
C2orf56
PRO1853

Gene

NDUFAF7

 GO Function (2)

 GO Component (3)

 GO Process (2)

 Compartment GO Term (22)

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 MGI Term (1)

 GWAS Trait (1)

Pathway (6)

 UniProt Keyword (8)

Gene RIF (4)

PMID Text
24838397 NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development.
24089531 NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20406883 a role for MidA in complex I assembly or stability

AA Sequence 

MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPMLRHLMYKIKSTGPITVAEYMKEVLTNP      1 - 70
AKGYYVYRDMLGEKGDFITSPEISQIFGELLGIWFISEWMATGKSTAFQLVELGPGRGTLVGDILRVFTQ     71 - 140
LGSVLKNCDISVHLVEVSQKLSEIQALTLTKEKVPLERNAGSPVYMKGVTKSGIPISWYRDLHDVPKGYS    141 - 210
FYLAHEFFDVLPVHKFQKTPQGWREVFVDIDPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCPDAGV    211 - 280
IIEELSQRIALTGGAALVADYGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTADVDFSYLRRMAQGKVAS    281 - 350
LGPIKQHTFLKNMGIDVRLKVLLDKSNEPSVRQQLLQGYDMLMNPKKMGERFNFFALLPHQRLQGGRYQR    351 - 420
NARQSKPFASVVAGFSELAWQ                                                     421 - 441
//

Text Mined References (14)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24838397 2014 The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24089531 2013 NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
22857522 2012 A three-dimensional topology of complex I inferred from evolutionary correlations.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20406883 2010 MidA is a putative methyltransferase that is required for mitochondrial complex I function.
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