Human Gene FOXRED1 (uc001qdi.3) Description and Page Index
  Description: Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_017547): This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010].
Transcript (Including UTRs)
   Position: hg19 chr11:126,138,935-126,148,027 Size: 9,093 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr11:126,139,102-126,147,584 Size: 8,483 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:126,138,935-126,148,027)mRNA (may differ from genome)Protein (486 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=FAD-dependent oxidoreductase domain-containing protein 1;
COFACTOR: FAD (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
DISEASE: Defects in FOXRED1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FOXRED1
CDC HuGE Published Literature: FOXRED1

-  MalaCards Disease Associations
  MalaCards Gene Search: FOXRED1
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (474), leigh syndrome* (118), leigh syndrome with leukodystrophy* (80), mitochondrial metabolism disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.64 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 571.63 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.00167-0.395 Picture PostScript Text
3' UTR -154.69443-0.349 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006076 - FAD-dep_OxRdtase

Pfam Domains:
PF01266 - FAD dependent oxidoreductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain

ModBase Predicted Comparative 3D Structure on Q96CU9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity

Biological Process:
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070469 respiratory chain

-  Descriptions from all associated GenBank mRNAs
  LF208411 - JP 2014500723-A/15914: Polycomb-Associated Non-Coding RNAs.
AK298807 - Homo sapiens cDNA FLJ59385 complete cds.
AF103801 - Homo sapiens clone H17 unknown mRNA.
AL136923 - Homo sapiens mRNA; cDNA DKFZp586B1920 (from clone DKFZp586B1920).
AK298010 - Homo sapiens cDNA FLJ55854 complete cds.
AK295428 - Homo sapiens cDNA FLJ59527 complete cds.
AK302039 - Homo sapiens cDNA FLJ52799 complete cds.
AK023987 - Homo sapiens cDNA FLJ13925 fis, clone Y79AA1000574, highly similar to Homo sapiens clone H17 unknown mRNA.
BC013902 - Homo sapiens FAD-dependent oxidoreductase domain containing 1, mRNA (cDNA clone MGC:15224 IMAGE:3956972), complete cds.
KJ899152 - Synthetic construct Homo sapiens clone ccsbBroadEn_08546 FOXRED1 gene, encodes complete protein.
CU680696 - Synthetic construct Homo sapiens gateway clone IMAGE:100019629 5' read FOXRED1 mRNA.
AB527252 - Synthetic construct DNA, clone: pF1KE0004, Homo sapiens FOXRED1 gene for FAD-dependent oxidoreductase domain containing 1, without stop codon, in Flexi system.
AM393709 - Synthetic construct Homo sapiens clone IMAGE:100001803 for hypothetical protein (FOXRED1 gene).
AK295267 - Homo sapiens cDNA FLJ53993 complete cds.
AF447877 - Homo sapiens FP634 mRNA, complete cds.
LF376006 - JP 2014500723-A/183509: Polycomb-Associated Non-Coding RNAs.
LF376005 - JP 2014500723-A/183508: Polycomb-Associated Non-Coding RNAs.
BC002910 - Homo sapiens FAD-dependent oxidoreductase domain containing 1, mRNA (cDNA clone IMAGE:3943339), partial cds.
LF376003 - JP 2014500723-A/183506: Polycomb-Associated Non-Coding RNAs.
AK126067 - Homo sapiens cDNA FLJ44079 fis, clone TESTI4039086.
JD052312 - Sequence 33336 from Patent EP1572962.
JD159991 - Sequence 141015 from Patent EP1572962.
JD269933 - Sequence 250957 from Patent EP1572962.
JD107359 - Sequence 88383 from Patent EP1572962.
JD525464 - Sequence 506488 from Patent EP1572962.
JD350195 - Sequence 331219 from Patent EP1572962.
JD243829 - Sequence 224853 from Patent EP1572962.
JD355742 - Sequence 336766 from Patent EP1572962.
JD543831 - Sequence 524855 from Patent EP1572962.
JD373659 - Sequence 354683 from Patent EP1572962.
JD532549 - Sequence 513573 from Patent EP1572962.
JD272409 - Sequence 253433 from Patent EP1572962.
LF375997 - JP 2014500723-A/183500: Polycomb-Associated Non-Coding RNAs.
JD103084 - Sequence 84108 from Patent EP1572962.
JD426164 - Sequence 407188 from Patent EP1572962.
MA443988 - JP 2018138019-A/15914: Polycomb-Associated Non-Coding RNAs.
MA611583 - JP 2018138019-A/183509: Polycomb-Associated Non-Coding RNAs.
MA611582 - JP 2018138019-A/183508: Polycomb-Associated Non-Coding RNAs.
MA611580 - JP 2018138019-A/183506: Polycomb-Associated Non-Coding RNAs.
MA611574 - JP 2018138019-A/183500: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KN84, B4DHU2, FP634, FXRD1_HUMAN, NM_017547, NP_060017, Q71MG0, Q96CU9, Q9BU39, Q9UKY9
UCSC ID: uc001qdi.3
RefSeq Accession: NM_017547
Protein: Q96CU9 (aka FXRD1_HUMAN)
CCDS: CCDS8471.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FOXRED1:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome Overview )

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_017547.3
exon count: 11CDS single in 3' UTR: no RNA size: 2087
ORF size: 1461CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2968.00frame shift in genome: no % Coverage: 99.23
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.