FOXRED1
entrez
55572
canonical
uniprot
Q96CU9
canonical
ensembl
ENSG00000110074
resolver
ensp
ENSP00000263578
resolver
ensp
ENSP00000434178
resolver
ensp
ENSP00000523350
resolver
ensp
ENSP00000523351
resolver
ensp
ENSP00000523354
resolver
ensp
ENSP00000523355
resolver
ensp
ENSP00000584609
resolver
ensp
ENSP00000635230
resolver
enst
ENST00000532125
resolver
genesymbol
FOXRED1
resolver
hgnc
HGNC:26927
resolver
uniprot
A0A8J9AK24
resolver
uniprot
B3KN84
resolver
uniprot
B4DHU2
resolver
uniprot
B4DQI0
resolver
uniprot
B4DXM1
resolver
uniprot
E7EWJ4
resolver
uniprot
Q71MG0
resolver
uniprot
Q9BU39
resolver
uniprot
Q9UKY9
resolver
uniprot_entry
A0A8J9AK24_HUMAN
resolver
uniprot_entry
B4DQI0_HUMAN
resolver
uniprot_entry
B4DXM1_HUMAN
resolver
uniprot_entry
FXRD1_HUMAN
resolver
uniprot_sec
B3KN84
resolver
uniprot_sec
B4DHU2
resolver
uniprot_sec
E7EWJ4
resolver
uniprot_sec
Q71MG0
resolver
uniprot_sec
Q9BU39
resolver
uniprot_sec
Q9UKY9
resolver
amino_acid_sequence
MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVGGGVLGLSVAYWLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYLLLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTEQEEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN19 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:20818383, ECO:0000269|PubMed:20858599, ECO:0000269|PubMed:25678554}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.-.-.-
uniprot
proteins
function
FUNCTION: Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554). {ECO:0000269|PubMed:20858599, ECO:0000269|PubMed:25678554}.
uniprot
proteins
mass_dalton
53812
uniprot
proteins
mutagenesis
MUTAGEN 327; /note="Y->A,F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554"; MUTAGEN 349; /note="Y->A,F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554"; MUTAGEN 359; /note="Y->A: Not able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554"; MUTAGEN 359; /note="Y->F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554"; MUTAGEN 410; /note="Y->A,F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554"; MUTAGEN 411; /note="Y->A,F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1."; /evidence="ECO:0000269|PubMed:25678554
uniprot
proteins
pubmed
10497265
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20818383
uniprot
proteins
pubmed
20858599
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25678554
uniprot
proteins
pubmed
25681241
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
486
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:20858599, ECO:0000305|PubMed:25678554}; Single-pass membrane protein {ECO:0000255}. Note=According to a report, it is associated with the matrix face of the mitochondrial inner membrane and does not contain any transmembrane region. However, one transmembrane domain is clearly predicted by different methods (Probable). {ECO:0000305|PubMed:25678554}.
uniprot
proteins
transmembrane_region
TRANSMEM 62..82; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins