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

    Gene ID: 55572, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (126269154..126278126)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (126298638..126309536)
    RS_2024_09 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 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 (49) 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

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    located_in mitochondrion HTP 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
      Related
      ENSP00000508540.1, ENST00000692336.1

    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
      Related
      ENSP00000434178.2, ENST00000532125.2

    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
      Related
      ENST00000534011.6

    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
      Related
      ENST00000685765.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_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]

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

    4. 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_054369341.1 → XP_054225316.1  FAD-dependent oxidoreductase domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DXM1, E7EWJ4

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

    5. 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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