Property Summary

NCBI Gene PubMed Count 21
PubMed Score 8.54
PubTator Score 6.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.100 0.000
Pick disease -1.200 0.000

Synonym

Accession Q96CU9 B3KN84 B4DHU2 Q71MG0 Q9BU39 Q9UKY9
Symbols H17
FP634

Gene

PANTHER Protein Class (2)

 GO Function (1)

Gene RIF (7)

PMID Text
26235939 Loss of FOXRED1, coupled with protein, choline and/or folate-deficient diets results in the depletion of glutathione, the dysregulation of nitric oxide metabolism and the peroxynitrite-mediated inactivation of complex I.
25765152 A structural model of FOXRED1 reveals a large substrate-binding cavity and a putative oxygen-binding site.
25678554 FOXRED1 is a crucial component in the productive assembly of respiratory chain complex I and that mutations in FOXRED1 leading to partial loss of function cause defects in complex I biogenesis.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20818383 Mutations in FOXRED1 are associated with complex I deficiency.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVG      1 - 70
GGVLGLSVAYWLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINE     71 - 140
YLAVVDAPPLDLRFNPSGYLLLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASY    141 - 210
GMEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQ    211 - 280
PVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQGPGLETPLVADTSGAYF    281 - 350
RREGLGSNYLGGRSPTEQEEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNTFDQNG    351 - 420
VVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII        421 - 486
//

Text Mined References (24)

PMID Year Title
26235939 2015 Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25765152 2015 A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly.
25681241 Evolution of FOXRED1, an FAD-dependent oxidoreductase necessary for NADH:ubiquinone oxidoreductase (Complex I) assembly.
25678554 2015 Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20858599 2010 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
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