LOCUS       NM_017547               1951 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens FAD dependent oxidoreductase domain containing 1
            (FOXRED1), transcript variant 1, mRNA.
ACCESSION   NM_017547
VERSION     NM_017547.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1951)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1951)
  AUTHORS   Zurita Rendon,O., Antonicka,H., Horvath,R. and Shoubridge,E.A.
  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
  JOURNAL   Mol Cell Biol 36 (16), 2132-2140 (2016)
   PUBMED   27215383
  REMARK    GeneRIF: 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.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1951)
  AUTHORS   Lemire,B.D.
  TITLE     Glutathione metabolism links FOXRED1 to NADH:ubiquinone
            oxidoreductase (complex I) deficiency: A hypothesis
  JOURNAL   Mitochondrion 24, 105-112 (2015)
   PUBMED   26235939
  REMARK    GeneRIF: 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.
REFERENCE   4  (bases 1 to 1951)
  AUTHORS   Formosa,L.E., Mimaki,M., Frazier,A.E., McKenzie,M., Stait,T.L.,
            Thorburn,D.R., Stroud,D.A. and Ryan,M.T.
  TITLE     Characterization of mitochondrial FOXRED1 in the assembly of
            respiratory chain complex I
  JOURNAL   Hum Mol Genet 24 (10), 2952-2965 (2015)
   PUBMED   25678554
  REMARK    GeneRIF: 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.
REFERENCE   5  (bases 1 to 1951)
  AUTHORS   Lemire,B.D.
  TITLE     A structural model for FOXRED1, an FAD-dependent oxidoreductase
            necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly
  JOURNAL   Mitochondrion 22, 9-16 (2015)
   PUBMED   25765152
  REMARK    GeneRIF: A structural model of FOXRED1 reveals a large
            substrate-binding cavity and a putative oxygen-binding site.
REFERENCE   6  (bases 1 to 1951)
  AUTHORS   Fassone,E., Duncan,A.J., Taanman,J.W., Pagnamenta,A.T.,
            Sadowski,M.I., Holand,T., Qasim,W., Rutland,P., Calvo,S.E.,
            Mootha,V.K., Bitner-Glindzicz,M. and Rahman,S.
  TITLE     FOXRED1, encoding an FAD-dependent oxidoreductase
            complex-I-specific molecular chaperone, is mutated in
            infantile-onset mitochondrial encephalopathy
  JOURNAL   Hum Mol Genet 19 (24), 4837-4847 (2010)
   PUBMED   20858599
  REMARK    Erratum:[Hum Mol Genet. 2015 Jul 15;24(14):4183. doi:
            10.1093/hmg/ddv164.. PMID: 26022995]
REFERENCE   7  (bases 1 to 1951)
  AUTHORS   Calvo,S.E., Tucker,E.J., Compton,A.G., Kirby,D.M., Crawford,G.,
            Burtt,N.P., Rivas,M., Guiducci,C., Bruno,D.L., Goldberger,O.A.,
            Redman,M.C., Wiltshire,E., Wilson,C.J., Altshuler,D., Gabriel,S.B.,
            Daly,M.J., Thorburn,D.R. and Mootha,V.K.
  TITLE     High-throughput, pooled sequencing identifies mutations in NUBPL
            and FOXRED1 in human complex I deficiency
  JOURNAL   Nat Genet 42 (10), 851-858 (2010)
   PUBMED   20818383
  REMARK    GeneRIF: Mutations in FOXRED1 are associated with complex I
            deficiency.
REFERENCE   8  (bases 1 to 1951)
  AUTHORS   Calvo,S., Jain,M., Xie,X., Sheth,S.A., Chang,B., Goldberger,O.A.,
            Spinazzola,A., Zeviani,M., Carr,S.A. and Mootha,V.K.
  TITLE     Systematic identification of human mitochondrial disease genes
            through integrative genomics
  JOURNAL   Nat Genet 38 (5), 576-582 (2006)
   PUBMED   16582907
REFERENCE   9  (bases 1 to 1951)
  AUTHORS   Oh,J.J., Grosshans,D.R., Wong,S.G. and Slamon,D.J.
  TITLE     Identification of differentially expressed genes associated with
            HER-2/neu overexpression in human breast cancer cells
  JOURNAL   Nucleic Acids Res 27 (20), 4008-4017 (1999)
   PUBMED   10497265
REFERENCE   10 (bases 1 to 1951)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA056004.1 and AL136923.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_017547.3.
            
            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].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK023987.1, SRR1803611.223351.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000263578.10/
                                                  ENSP00000263578.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 DA056004.1         115-120
            7-1951              AL136923.1         1-1945
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1951
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /note="FAD dependent oxidoreductase domain containing 1"
                     /db_xref="GeneID:55572"
                     /db_xref="HGNC:HGNC:26927"
                     /db_xref="MIM:613622"
     exon            1..138
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1514
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     FAD-dependent oxidoreductase domain-containing protein 1"
                     /codon_start=1
                     /product="FAD-dependent oxidoreductase domain-containing
                     protein 1 isoform 1"
                     /protein_id="NP_060017.1"
                     /db_xref="CCDS:CCDS8471.1"
                     /db_xref="GeneID:55572"
                     /db_xref="HGNC:HGNC:26927"
                     /db_xref="MIM:613622"
                     /translation="MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSI
                     LPGRSCDLLQDTSHLPPEHSDVVIVGGGVLGLSVAYWLKKLESRRGAIRVLVVERDHT
                     YSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYL
                     LLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWF
                     DPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRS
                     LEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQG
                     PGLETPLVADTSGAYFRREGLGSNYLGGRSPTEQEEPDPANLEVDHDFFQDKVWPHLA
                     LRVPAFETLKVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGR
                     AVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII"
     exon            139..359
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            360..470
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            471..589
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            590..684
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            685..786
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            787..863
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            864..1024
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1154
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1259
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1951
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1930..1935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /note="hexamer: AATACA"
     polyA_site      1951
                     /gene="FOXRED1"
                     /gene_synonym="FP634; H17; MC1DN19"
                     /note="major polyA site"
ORIGIN      
        1 gataatagcg aggcagcagt gcagctttca gagggtccgg gctcagaggg gttatgattc
       61 ggagggttct gccgcacggc atgggccggg gcctcttgac ccggaggcca ggcacgcgca
      121 gaggaggctt ttctctggac tgggatggaa aggtgtctga gattaagaag aagatcaagt
      181 cgatcctgcc tggaaggtcc tgtgatctac tgcaagacac cagccacctg cctcccgagc
      241 actcggatgt ggtgatcgtg ggaggtgggg tgcttggctt gtctgtggcc tattggctga
      301 agaagctgga gagcagacga ggtgctattc gagtgctagt ggtggaacgg gaccacacgt
      361 attcacaggc ctccactggg ctctcagtag gtgggatttg tcagcagttc tcattgcctg
      421 agaacatcca gctctccctc ttttcagcca gctttctacg gaacatcaat gagtacctgg
      481 ccgtagtcga tgctcctccc ctggacctcc ggttcaaccc ctcgggctac ctcttgctgg
      541 cttcagaaaa ggatgctgca gccatggaga gcaacgtgaa agtgcagagg caggagggag
      601 ccaaagtttc tctgatgtct cctgatcagc ttcggaacaa gtttccctgg ataaacacag
      661 agggagtggc tttggcgtct tatgggatgg aggacgaagg ttggtttgac ccctggtgtc
      721 tgctccaggg gcttcggcga aaggtccagt ccttgggagt ccttttctgc cagggagagg
      781 tgacacgttt tgtctcttca tctcaacgca tgttgaccac agatgacaaa gcggtggtct
      841 tgaaaaggat ccatgaagtc catgtgaaga tggaccgcag cctggagtac cagcctgtgg
      901 aatgcgccat tgtgatcaac gcagccggag cctggtctgc gcaaatcgca gcactggctg
      961 gtgttggaga ggggccgcct ggcaccctgc agggcaccaa gctacctgtg gagccgagga
     1021 aaaggtatgt gtatgtgtgg cactgccccc agggaccagg cctagagact ccgcttgttg
     1081 cagacaccag tggagcctat tttcgccggg aaggattagg tagcaactac ctaggtggtc
     1141 gtagccccac tgagcaggaa gaaccggacc cggcgaacct ggaagtggac catgatttct
     1201 tccaggacaa ggtgtggccc catttggccc tgagggtccc agcttttgag actctgaagg
     1261 ttcagagcgc ctgggccggc tattacgact acaacacctt tgaccagaat ggcgtggtgg
     1321 gcccccaccc gctagttgtc aacatgtact ttgctactgg cttcagtggt cacgggctcc
     1381 agcaggcccc tggcattggg cgagctgtag cagagatggt actgaagggc aggttccaga
     1441 ccatcgacct gagccccttc ctctttaccc gcttttactt gggagagaag atccaggaga
     1501 acaacatcat ctgagcatgt gtgctctgca ctggctccac tggcttgcat cctggctgtg
     1561 ttcacagcct tgtttgctgc ttccatcttc cccagtactg tgccaggcct tctccccctc
     1621 cccagtgtcc tctcctctca ggcaggccat tgcacccata tggctgggca ggcacaggca
     1681 gtgaggccga ggccaatagc gagtgatgag cgggatccta ggactgatct gtagcccatg
     1741 ctgatgtcac ccaccagggc aatccatctg gaggcctgag caccctggcc caggactggc
     1801 ttcatcctgg cactgaccag gaaagactgc ctctgaccct cttagcagac agagcccagg
     1861 catgggagca ctctggggca gcctggctca ggtttattga ttttcgtctg tttaccctat
     1921 ccattaatca atacatgtaa ttaactcctt c
//
