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FOXRED1 FAD dependent oxidoreductase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55572, updated on 11-Apr-2024

Summary

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Official Symbol
FOXRED1provided by HGNC
Official Full Name
FAD dependent oxidoreductase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26927
See related
Ensembl:ENSG00000110074 MIM:613622; AllianceGenome:HGNC:26927
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H17; FP634; MC1DN19
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 6.2), liver (RPKM 5.5) and 25 other tissues See more
Orthologs
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Genomic context

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See FOXRED1 in Genome Data Viewer
Location:
11q24.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (126269154..126278126)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (126298638..126309536)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (126139049..126148021)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 118 member B Neighboring gene RNA, U4 small nuclear 86, pseudogene Neighboring gene MPRA-validated peak1502 silencer Neighboring gene MPRA-validated peak1503 silencer Neighboring gene SRP receptor subunit alpha Neighboring gene RNA, 7SL, cytoplasmic 351, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5705 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:126147427-126147591 Neighboring gene uncharacterized LOC124902838 Neighboring gene ribosomal protein L35a pseudogene 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. Zurita Rendón O, et al. Mol Cell Biol, 2016 Aug 15. PMID 27215383, Free PMC Article
  2. A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly. Lemire BD. Mitochondrion, 2015 May. PMID 25765152
  3. Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis. Lemire BD. Mitochondrion, 2015 Sep. PMID 26235939
  4. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Fassone E, et al. Hum Mol Genet, 2010 Dec 15. PMID 20858599, Free PMC Article
  5. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Calvo SE, et al. Nat Genet, 2010 Oct. PMID 20818383, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results show that depletion of FOXRED1 in myoblasts results in decreased levels of fully assembled complexes I and II. FOXRED1 associates with the ND1-containing subcomplexes of ~370 kDa and ~620 kDa and that FOXRED1 activity is required for the formation of a 550-kDa subcomplex of complex I.
    Title: A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.
  2. 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.
    Title: Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis.
  3. A structural model of FOXRED1 reveals a large substrate-binding cavity and a putative oxygen-binding site.
    Title: A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly.
  4. 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.
    Title: Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.
  5. Mutations in FOXRED1 are associated with complex I deficiency.
    Title: High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 19
MedGen: C4748791 OMIM: 618241 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FAD-dependent oxidoreductase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028029.1 RefSeqGene

    Range
    5115..14087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001425160.1 → NP_001412089.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP001318

  2. NM_001425161.1 → NP_001412090.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001318

  3. NM_001425163.1 → NP_001412092.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP001318

  4. NM_001425164.1 → NP_001412093.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    A0A8J9AK24

  5. NM_001425165.1 → NP_001412094.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP001318

  6. NM_001425166.1 → NP_001412095.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP001318

  7. NM_001425167.1 → NP_001412096.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP001318

  8. NM_001425168.1 → NP_001412097.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4

  9. NM_001425169.1 → NP_001412098.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4

  10. NM_001425170.1 → NP_001412099.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4

  11. NM_001425171.1 → NP_001412100.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    B4DQI0

  12. NM_001425172.1 → NP_001412101.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP001318
    UniProtKB/TrEMBL
    B4DQI0

  13. NM_001425173.1 → NP_001412102.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP001318

  14. NM_001425174.1 → NP_001412103.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP001318

  15. NM_001425175.1 → NP_001412104.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP001318

  16. NM_017547.4 → NP_060017.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AL136923, DA056004
    Consensus CDS
    CCDS8471.1
    UniProtKB/Swiss-Prot
    B3KN84, B4DHU2, Q71MG0, Q96CU9, Q9BU39, Q9UKY9
    UniProtKB/TrEMBL
    A0A8I5KTW5
    Related
    ENSP00000263578.5, ENST00000263578.10
    Conserved Domains (1) summary
    COG0665
    Location:77 → 478
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]

RNA

  1. NR_037647.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK302039, AL136923, AP001318, DA056004
    Related
    ENST00000525770.5

  2. NR_037648.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK295267, AL136923, AP001318
    Related
    ENST00000687699.1

  3. NR_189143.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001318

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    126269154..126278126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427252.1 → XP_047283208.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X2

  2. XM_017018000.3 → XP_016873489.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X1

  3. XM_017018002.2 → XP_016873491.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B4DI59, B4DXM1, E7EWJ4
    Conserved Domains (1) summary
    COG0665
    Location:9 → 308
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]

  4. XM_047427253.1 → XP_047283209.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X4

  5. XM_006718879.4 → XP_006718942.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006718942.1

    UniProtKB/TrEMBL
    B4DI59, B4DXM1, E7EWJ4
    Conserved Domains (1) summary
    COG0665
    Location:9 → 308
    DadA; Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    126298638..126309536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369340.1 → XP_054225315.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4

  2. XM_054369339.1 → XP_054225314.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X2

  3. XM_054369338.1 → XP_054225313.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X1

  4. XM_054369341.1 → XP_054225316.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4

  5. XM_054369342.1 → XP_054225317.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X4

  6. XM_054369343.1 → XP_054225318.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B4DXM1, E7EWJ4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96CU9.2 GenPept UniProtKB/Swiss-Prot:Q96CU9

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