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 gen... See more...

Aliases for FOXRED1 Gene

Aliases for FOXRED1 Gene

  • FAD Dependent Oxidoreductase Domain Containing 1 2 3 5
  • FAD-Dependent Oxidoreductase Domain-Containing Protein 1 3 4
  • H17 2 3
  • EC 1.-.-.- 4
  • MC1DN19 3
  • FOXRED1 5
  • FP634 3

External Ids for FOXRED1 Gene

Previous GeneCards Identifiers for FOXRED1 Gene

  • GC11P125645
  • GC11P126139
  • GC11P122081

Summaries for FOXRED1 Gene

Entrez Gene Summary for FOXRED1 Gene

  • 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]

GeneCards Summary for FOXRED1 Gene

FOXRED1 (FAD Dependent Oxidoreductase Domain Containing 1) is a Protein Coding gene. Diseases associated with FOXRED1 include Mitochondrial Complex I Deficiency, Nuclear Type 19 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is DMGDH.

UniProtKB/Swiss-Prot Summary for FOXRED1 Gene

  • 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).

Gene Wiki entry for FOXRED1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXRED1 Gene

Genomics for FOXRED1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FOXRED1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J126266 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 654.8 -0.4 -391 3.5 SP1 HNRNPL CREB1 GATAD2A ATF7 REST ZNF629 TFE3 ZNF692 POLR2A FOXRED1 SRPRA FAM118B MN309307 RPUSD4
GH11J126270 Promoter 0.3 Ensembl 600.7 +1.7 1658 0.2 FOXRED1 SRPRA HSALNG0088018 TIRAP
GH11J126210 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 70.7 -57.1 -57080 3.1 SP1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ ZNF692 POLR2A FAM118B RPUSD4 lnc-SRPRA-6 FOXRED1 ENSG00000254694 STT3A SRPRA CDON RF00015-015 RNU4-86P
GH11J126280 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 53.1 +13.7 13719 4.8 PRDM10 ZNF629 BACH1 JUND PRDM1 MTA2 ZNF143 RBFOX2 POLR2A RXRB NONHSAG009988.2 SNODB566 TIRAP FOXRED1 FAM118B ENSG00000254694 DCPS ENSG00000255062 RPUSD4 RNU4-86P
GH11J126317 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 48.8 +49.7 49744 3.2 PRDM1 IKZF2 PKNOX1 EED DPF2 JUND RUNX3 CBFB IKZF1 MAFK FOXRED1 ST3GAL4 TIRAP SRPRA DCPS FAM118B HYLS1 lnc-ST3GAL4-2 ENSG00000255062
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXRED1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXRED1

Top Transcription factor binding sites by QIAGEN in the FOXRED1 gene promoter:
  • Brachyury
  • c-Ets-1
  • CUTL1
  • FOXI1
  • HFH-3
  • HOXA3
  • HSF1 (long)
  • HSF1short
  • IRF-7A

Genomic Locations for FOXRED1 Gene

Genomic Locations for FOXRED1 Gene
chr11:126,269,043-126,278,132
(GRCh38/hg38)
Size:
9,090 bases
Orientation:
Plus strand
chr11:126,138,935-126,148,027
(GRCh37/hg19)
Size:
9,093 bases
Orientation:
Plus strand

Genomic View for FOXRED1 Gene

Genes around FOXRED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXRED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXRED1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXRED1 Gene

Proteins for FOXRED1 Gene

  • Protein details for FOXRED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CU9-FXRD1_HUMAN
    Recommended name:
    FAD-dependent oxidoreductase domain-containing protein 1
    Protein Accession:
    Q96CU9
    Secondary Accessions:
    • B3KN84
    • B4DHU2
    • Q71MG0
    • Q9BU39
    • Q9UKY9

    Protein attributes for FOXRED1 Gene

    Size:
    486 amino acids
    Molecular mass:
    53812 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Associates with components of the mitochondrial respiratory chain complex I.

    Alternative splice isoforms for FOXRED1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXRED1 Gene

Post-translational modifications for FOXRED1 Gene

  • Ubiquitination at Lys42, Lys33, and Lys259
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FOXRED1 Gene

Domains & Families for FOXRED1 Gene

Gene Families for FOXRED1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FOXRED1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FOXRED1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52799 (B4DXM1_HUMAN)
  • FAD-dependent oxidoreductase domain-containing protein 1 (FXRD1_HUMAN)
genes like me logo Genes that share domains with FOXRED1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXRED1 Gene

Function for FOXRED1 Gene

Molecular function for FOXRED1 Gene

UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for FOXRED1 Gene

Phenotypes From GWAS Catalog for FOXRED1 Gene

Gene Ontology (GO) - Molecular Function for FOXRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IBA 21873635
genes like me logo Genes that share ontologies with FOXRED1: view
genes like me logo Genes that share phenotypes with FOXRED1: view

Human Phenotype Ontology for FOXRED1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FOXRED1

CRISPR Products

miRNA for FOXRED1 Gene

miRTarBase miRNAs that target FOXRED1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXRED1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FOXRED1 Gene

Localization for FOXRED1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXRED1 Gene

Mitochondrion inner membrane. Single-pass membrane protein. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXRED1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FOXRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA,IDA 20858599
GO:0005743 mitochondrial inner membrane IEA,IDA 25678554
GO:0005747 mitochondrial respiratory chain complex I IMP 20858599
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FOXRED1: view

Pathways & Interactions for FOXRED1 Gene

PathCards logo

SuperPathways for FOXRED1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 25678554
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FOXRED1: view

No data available for Pathways by source and SIGNOR curated interactions for FOXRED1 Gene

Drugs & Compounds for FOXRED1 Gene

(1) Drugs for FOXRED1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with FOXRED1: view

Transcripts for FOXRED1 Gene

mRNA/cDNA for FOXRED1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXRED1

Alternative Splicing Database (ASD) splice patterns (SP) for FOXRED1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - - -
SP10: - - - - - - -
SP11: - - - - - - - -
SP12: - - - - -
SP13: - - -
SP14:
SP15: - - - - -
SP16: - - - - - -
SP17: -
SP18: - - -
SP19:
SP20: - - -

ExUns: 11b · 11c ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14a · 14b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for FOXRED1 Gene

GeneLoc Exon Structure for
FOXRED1

Expression for FOXRED1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXRED1 Gene

Protein differential expression in normal tissues from HIPED for FOXRED1 Gene

This gene is overexpressed in Breast (59.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOXRED1 Gene



Protein tissue co-expression partners for FOXRED1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXRED1

SOURCE GeneReport for Unigene cluster for FOXRED1 Gene:

Hs.317190

Evidence on tissue expression from TISSUES for FOXRED1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Lung(4.2)
  • Blood(2.4)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXRED1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with FOXRED1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FOXRED1 Gene

Orthologs for FOXRED1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXRED1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FOXRED1 30 31
  • 97.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FOXRED1 30 31
  • 85.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FOXRED1 30 31
  • 84.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Foxred1 30 17 31
  • 82.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia FOXRED1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FOXRED1 30 31
  • 65.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FOXRED1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia foxred1 30
  • 62.04 (n)
Str.16899 30
Zebrafish
(Danio rerio)
Actinopterygii foxred1 30 31
  • 61.63 (n)
OneToOne
Dr.11804 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009080 30
  • 56.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)37Bb 30 31
  • 52.21 (n)
OneToMany
CG3270 31
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_M04B2.4 30
  • 46.68 (n)
M04B2.4 31
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for FOXRED1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FOXRED1 Gene

ENSEMBL:
Gene Tree for FOXRED1 (if available)
TreeFam:
Gene Tree for FOXRED1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXRED1: view image

Paralogs for FOXRED1 Gene

Paralogs for FOXRED1 Gene

genes like me logo Genes that share paralogs with FOXRED1: view

Variants for FOXRED1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXRED1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
668830 Likely Benign: not provided 126,276,157(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
678089 Benign: not provided 126,271,239(+) A/AAAGG INTRON_VARIANT
678598 Benign: not provided 126,276,905(+) C/G INTRON_VARIANT
703853 Conflicting Interpretations: Mitochondrial complex I deficiency, nuclear type 1; not provided 126,273,089(+) A/G INTRON_VARIANT
704020 Likely Benign: not provided 126,273,366(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FOXRED1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FOXRED1 Gene

Variant ID Type Subtype PubMed ID
esv3398368 CNV insertion 20981092
nsv513341 CNV insertion 21212237
nsv556530 CNV loss 21841781

Variation tolerance for FOXRED1 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.33; 90.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXRED1 Gene

Human Gene Mutation Database (HGMD)
FOXRED1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXRED1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXRED1 Gene

Disorders for FOXRED1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FOXRED1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FXRD1_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for FOXRED1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FOXRED1: view

No data available for Genatlas for FOXRED1 Gene

Publications for FOXRED1 Gene

  1. Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells. (PMID: 10497265) Oh JJ … Slamon DJ (Nucleic acids research 1999) 2 3 4
  2. Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. (PMID: 25678554) Formosa LE … Ryan MT (Human molecular genetics 2015) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. (PMID: 20858599) Fassone E … Rahman S (Human molecular genetics 2010) 3 4

Products for FOXRED1 Gene

Sources for FOXRED1 Gene