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Aliases for FOXRED1 Gene

Aliases for FOXRED1 Gene

  • FAD-Dependent Oxidoreductase Domain Containing 1 2 3 5
  • EC 1.-.-.- 4
  • FP634 3
  • H17 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 and Leigh Syndrome. GO annotations related to this gene include oxidoreductase activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXRED1 Gene

Genomics for FOXRED1 Gene

Regulatory Elements for FOXRED1 Gene

Enhancers for FOXRED1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FOXRED1 on UCSC Golden Path with GeneCards custom track

Promoters for FOXRED1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FOXRED1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FOXRED1 Gene

Chromosome:
11
Start:
126,269,040 bp from pter
End:
126,278,132 bp from pter
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

Proteomics data for FOXRED1 Gene at MOPED

Post-translational modifications for FOXRED1 Gene

  • Ubiquitination at Lys 33, Lys 42, and Lys 259
  • Modification sites at PhosphoSitePlus

Other Protein References for FOXRED1 Gene

No data available for DME Specific Peptides for FOXRED1 Gene

Domains & Families for FOXRED1 Gene

Protein Domains for FOXRED1 Gene

Suggested Antigen Peptide Sequences for FOXRED1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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 for FOXRED1 Gene

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for FOXRED1 Gene COMPARTMENTS Subcellular localization image for FOXRED1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for FOXRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005747 mitochondrial respiratory chain complex I IMP 20858599
genes like me logo Genes that share ontologies with FOXRED1: view

Pathways & Interactions for FOXRED1 Gene

SuperPathways for FOXRED1 Gene

No Data Available

Interacting Proteins for FOXRED1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000263578%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000312618%0d%0a9606.ENSP00000366135%0d%0a
Selected Interacting proteins: ENSP00000263578 Q96CU9-FXRD1_HUMAN for FOXRED1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for FOXRED1 Gene

None

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

Unigene Clusters for FOXRED1 Gene

FAD-dependent oxidoreductase domain containing 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
FOXRED1

Expression for FOXRED1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for FOXRED1 Gene



SOURCE GeneReport for Unigene cluster for FOXRED1 Gene Hs.317190

genes like me logo Genes that share expression patterns with FOXRED1: view

Protein tissue co-expression partners for FOXRED1 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia FOXRED1 35
  • 84.36 (n)
  • 82.38 (a)
FOXRED1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXRED1 35
  • 85.22 (n)
  • 83.82 (a)
FOXRED1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxred1 35
  • 82.65 (n)
  • 79.42 (a)
Foxred1 16
Foxred1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXRED1 35
  • 97.81 (n)
  • 97.18 (a)
FOXRED1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXRED1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves FOXRED1 35
  • 65.5 (n)
  • 62 (a)
FOXRED1 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXRED1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxred1 35
  • 62.04 (n)
  • 61.47 (a)
Str.16899 35
zebrafish
(Danio rerio)
Actinopterygii Dr.11804 35
foxred1 35
  • 61.63 (n)
  • 61.33 (a)
foxred1 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009080 35
  • 56.87 (n)
  • 53.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)37Bb 35
  • 52.21 (n)
  • 43.63 (a)
CG3270 36
  • 47 (a)
OneToMany
l(2)37Bb 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_M04B2.4 35
  • 46.68 (n)
  • 40.3 (a)
M04B2.4 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for FOXRED1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FOXRED1 Gene

No data available for Paralogs for FOXRED1 Gene

Variants for FOXRED1 Gene

Sequence variations from dbSNP and Humsavar for FOXRED1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs17855445 - 126,276,449(+) TTGTT(C/G)CAGAC nc-transcript-variant, reference, missense
rs34542988 - 126,273,351(+) CCGTA(A/G)TCGAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs7116126 - 126,277,108(+) GGACC(A/G)TGATT nc-transcript-variant, reference, missense
VAR_064571 Mitochondrial complex I deficiency (MT-C1D)
VAR_073273 Mitochondrial complex I deficiency (MT-C1D)

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

Variant ID Type Subtype PubMed ID
nsv898440 CNV Loss 21882294
nsv513341 CNV Insertion 21212237

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)

Relevant External Links for FOXRED1 Gene

Human Gene Mutation Database (HGMD)
FOXRED1

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

Disorders for FOXRED1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FOXRED1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
townes-brocks syndrome
  • townes-brocks branchiootorenal-like syndrome
branchiootorenal syndrome
  • branchio-oto-renal syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FXRD1_HUMAN
  • 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. {ECO:0000269 PubMed:20818383, ECO:0000269 PubMed:20858599}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOXRED1

Genetic Association Database (GAD)
FOXRED1
Human Genome Epidemiology (HuGE) Navigator
FOXRED1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXRED1
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 J.J. … Slamon D.J. (Nucleic Acids Res. 1999) 2 3 4 67
  2. Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. (PMID: 25678554) Formosa L.E. … Ryan M.T. (Hum. Mol. Genet. 2015) 3
  3. A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly. (PMID: 25765152) Lemire B.D. (Mitochondrion 2015) 3
  4. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for FOXRED1 Gene

Sources for FOXRED1 Gene

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