| 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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7933 | 3.61673277135469E-7 |
| psoriasis | 6685 | 1.72073908266791E-4 |
| tuberculosis and treatment for 6 months | 686 | 0.00132390284170242 |
| aldosterone-producing adenoma | 664 | 0.0180922896795666 |
| 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 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG |
| Opossum | EggNOG Inparanoid |
| Chicken | OMA EggNOG |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG Inparanoid |
| Fruitfly | EggNOG Inparanoid |
| 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 |
MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPMLRHLMYKIKSTGPITVAEYMKEVLTNP 1 - 70 AKGYYVYRDMLGEKGDFITSPEISQIFGELLGIWFISEWMATGKSTAFQLVELGPGRGTLVGDILRVFTQ 71 - 140 LGSVLKNCDISVHLVEVSQKLSEIQALTLTKEKVPLERNAGSPVYMKGVTKSGIPISWYRDLHDVPKGYS 141 - 210 FYLAHEFFDVLPVHKFQKTPQGWREVFVDIDPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCPDAGV 211 - 280 IIEELSQRIALTGGAALVADYGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTADVDFSYLRRMAQGKVAS 281 - 350 LGPIKQHTFLKNMGIDVRLKVLLDKSNEPSVRQQLLQGYDMLMNPKKMGERFNFFALLPHQRLQGGRYQR 351 - 420 NARQSKPFASVVAGFSELAWQ 421 - 441 //
| 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. |
| More... |
