LOCUS       NM_024417               1846 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens ferredoxin reductase (FDXR), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_024417
VERSION     NM_024417.5
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 1846)
  AUTHORS   Pignatti,E., Slone,J., Gomez Cano,M.A., Campbell,T.M., Vu,J.,
            Sauter,K.S., Pandey,A.V., Martinez-Azorin,F., Alonso-Riano,M.,
            Neilson,D.E., Longo,N., du Toit,T., Voegel,C.D., Huang,T. and
            Fluck,C.E.
  TITLE     FDXR variants cause adrenal insufficiency and atypical sexual
            development
  JOURNAL   JCI Insight 9 (14), e179071 (2024)
   PUBMED   38885337
  REMARK    GeneRIF: FDXR variants cause adrenal insufficiency and atypical
            sexual development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1846)
  AUTHORS   Wei,X., Li,H., Zhu,T., Yao,F. and Sui,R.
  TITLE     FDXR-associated disease in a Chinese cohort: Unraveling expanded
            ocular phenotypes and genetic spectrum
  JOURNAL   Exp Eye Res 234, 109600 (2023)
   PUBMED   37481223
  REMARK    GeneRIF: FDXR-associated disease in a Chinese cohort: Unraveling
            expanded ocular phenotypes and genetic spectrum.
REFERENCE   3  (bases 1 to 1846)
  AUTHORS   Masnada,S., Previtali,R., Erba,P., Beretta,E., Camporesi,A.,
            Chiapparini,L., Doneda,C., Iascone,M., Sartorio,M.U.A.,
            Spaccini,L., Veggiotti,P., Osio,M., Tonduti,D. and Moroni,I.
  TITLE     FDXR-associated disease: a challenging differential diagnosis with
            inflammatory peripheral neuropathy
  JOURNAL   Neurol Sci 44 (9), 3037-3043 (2023)
   PUBMED   37046037
  REMARK    GeneRIF: FDXR-associated disease: a challenging differential
            diagnosis with inflammatory peripheral neuropathy.
            Review article
REFERENCE   4  (bases 1 to 1846)
  AUTHORS   Yi,S., Zheng,Y., Yi,Z., Wang,Y., Jiang,Y., Ouyang,J., Li,S.,
            Xiao,X., Sun,W., Wang,P. and Zhang,Q.
  TITLE     FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset
            Severe Retinal Dystrophy as Common Presenting Features in a Chinese
            Population
  JOURNAL   Genes (Basel) 14 (4), 952 (2023)
   PUBMED   37107710
  REMARK    GeneRIF: FDXR-Associated Oculopathy: Congenital Amaurosis and
            Early-Onset Severe Retinal Dystrophy as Common Presenting Features
            in a Chinese Population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1846)
  AUTHORS   Coghlan,V.M. and Vickery,L.E.
  TITLE     Site-specific mutations in human ferredoxin that affect binding to
            ferredoxin reductase and cytochrome P450scc
  JOURNAL   J Biol Chem 266 (28), 18606-18612 (1991)
   PUBMED   1917982
REFERENCE   6  (bases 1 to 1846)
  AUTHORS   Sparkes,R.S., Klisak,I. and Miller,W.L.
  TITLE     Regional mapping of genes encoding human steroidogenic enzymes:
            P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase
            to 17q24-q25; and P450c17 to 10q24-q25
  JOURNAL   DNA Cell Biol 10 (5), 359-365 (1991)
   PUBMED   1863359
REFERENCE   7  (bases 1 to 1846)
  AUTHORS   Lin,D., Shi,Y.F. and Miller,W.L.
  TITLE     Cloning and sequence of the human adrenodoxin reductase gene
  JOURNAL   Proc Natl Acad Sci U S A 87 (21), 8516-8520 (1990)
   PUBMED   2236061
REFERENCE   8  (bases 1 to 1846)
  AUTHORS   Sasano,H., Sasano,N., Okamoto,M. and Nonaka,Y.
  TITLE     Immunohistochemical demonstration of adrenodoxin reductase in
            bovine and human adrenals
  JOURNAL   Pathol Res Pract 184 (5), 473-479 (1989)
   PUBMED   2748461
REFERENCE   9  (bases 1 to 1846)
  AUTHORS   Solish,S.B., Picado-Leonard,J., Morel,Y., Kuhn,R.W., Mohandas,T.K.,
            Hanukoglu,I. and Miller,W.L.
  TITLE     Human adrenodoxin reductase: two mRNAs encoded by a single gene on
            chromosome 17cen----q25 are expressed in steroidogenic tissues
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7104-7108 (1988)
   PUBMED   2845396
REFERENCE   10 (bases 1 to 1846)
  AUTHORS   Mittal,S., Zhu,Y.Z. and Vickery,L.E.
  TITLE     Molecular cloning and sequence analysis of human placental
            ferredoxin
  JOURNAL   Arch Biochem Biophys 264 (2), 383-391 (1988)
   PUBMED   2969697
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA267443.1 and BC018911.2.
            
            On Nov 22, 2018 this sequence version replaced NM_024417.4.
            
            Summary: This gene encodes a mitochondrial flavoprotein that
            initiates electron transport for cytochromes P450 receiving
            electrons from NADPH. Multiple alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Apr
            2012].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. It encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.813605.1,
                                           SRR3476690.252488.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000293195.10/
                                                  ENSP00000293195.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA267443.1         38-54
            18-1846             BC018911.2         1-1829
FEATURES             Location/Qualifiers
     source          1..1846
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1846
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /note="ferredoxin reductase"
                     /db_xref="GeneID:2232"
                     /db_xref="HGNC:HGNC:3642"
                     /db_xref="MIM:103270"
     exon            1..129
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..1526
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /EC_number="1.18.1.6"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; adrenodoxin reductase; NADPH:adrenodoxin
                     oxidoreductase, mitochondrial; AR; ferredoxin--NADP(+)
                     reductase; adrenodoxin-NADP(+) reductase; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="NADPH:adrenodoxin oxidoreductase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_077728.3"
                     /db_xref="CCDS:CCDS58593.1"
                     /db_xref="GeneID:2232"
                     /db_xref="HGNC:HGNC:3642"
                     /db_xref="MIM:103270"
                     /translation="MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVV
                     GSGPAGFYTAQHLLKHPQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHS
                     GRCAFWGNVEVGRDVTVPELQEAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGW
                     YNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQS
                     RVKTVWLVGRRGPLQVAFTIKELREMIQLPGARPILDPVDFLGLQDKIKEVPRPRKRL
                     TELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLE
                     GVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPG
                     LYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGV
                     RPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH"
     exon            130..227
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            228..320
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            321..443
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            444..557
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            558..659
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            660..767
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            768..852
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1052
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1224
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1395
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1846
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1825..1830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /note="hexamer: AATAAA"
     polyA_site      1846
                     /gene="FDXR"
                     /gene_synonym="ADR; ADXR; ANOA; MMDS9B"
                     /note="major polyA site"
ORIGIN      
        1 gcggagcagt agctaggaac agatccactt gcaggttgct gctcccagcc atggcttcgc
       61 gctgctggcg ctggtggggc tggtcggcgt ggcctcggac ccggctgcct cccgccggga
      121 gcaccccgag cttctgccac catttctcca cacaggagaa gaccccccag atctgtgtgg
      181 tgggcagtgg cccagctggc ttctacacgg cccaacacct gctaaagcac ccccaggccc
      241 acgtggacat ctacgagaaa cagcctgtgc cctttggcct ggtgcgcttt ggtgtggcgc
      301 ctgatcaccc cgaggtgaag aatgtcatca acacatttac ccagacggcc cattctggcc
      361 gctgtgcctt ctggggcaac gtggaggtgg gcagggacgt gacggtgccg gagctgcagg
      421 aggcctacca cgctgtggtg ctgagctacg gggcagagga ccatcgggcc ctggaaattc
      481 ctggtgagga gctgccaggt gtgtgctccg cccgggcctt cgtgggctgg tacaacgggc
      541 ttcctgagaa ccaggagctg gagccagacc tgagctgtga cacagccgtg attctggggc
      601 aggggaacgt ggctctggac gtggcccgca tcctactgac cccacctgag cacctggaga
      661 gaacggacat cacgaaggca gccctgggtg tactgaggca gagtcgagtg aagacagtgt
      721 ggctagtggg ccggcgtgga cccctgcaag tggccttcac cattaaggag cttcgggaga
      781 tgattcagtt accgggagcc cggcccattt tggatcctgt ggatttcttg ggtctccagg
      841 acaagatcaa ggaggtcccc cgcccgagga agcggctgac ggaactgctg cttcgaacgg
      901 ccacagagaa gccagggccg gcggaagctg cccgccaggc atcggcctcc cgtgcctggg
      961 gcctccgctt tttccgaagc ccccagcagg tgctgccctc accagatggg cggcgggcag
     1021 caggtgtccg cctagcagtc actagactgg agggtgtcga tgaggccacc cgtgcagtgc
     1081 ccacgggaga catggaagac ctcccttgtg ggctggtgct cagcagcatt gggtataaga
     1141 gccgccctgt cgacccaagc gtgccctttg actccaagct tggggtcatc cccaatgtgg
     1201 agggccgggt tatggatgtg ccaggcctct actgcagcgg ctgggtgaag agaggaccta
     1261 caggtgtcat agccacaacc atgactgaca gcttcctcac cggccagatg ctgctgcagg
     1321 acctgaaggc tgggttgctc ccctctggcc ccaggcctgg ctacgcagcc atccaggccc
     1381 tgctcagcag ccgaggggtc cggccagtct ctttctcaga ctgggagaag ctggatgccg
     1441 aggaggtggc ccggggccag ggcacgggga agcccaggga gaagctggtg gatcctcagg
     1501 agatgctgcg cctcctgggc cactgagccc agccccagcc ccggccccca gcagggaagg
     1561 gatgagtgtt gggaggggaa gggctgggtc cgtctgagtg ggactttgca cctctgctga
     1621 tcccggccgg ccctggcttg gaggcttggc tgctcttcca gcgtctctcc tccctcctgg
     1681 ggaaggtcgc ccttgcgcgc aaggttttag ctttcagcaa ctgaggtaac cttagggaca
     1741 ggtggaggtg tgggccgatc taacccctta cccatctctc tactgctgga ctgtggaggg
     1801 tcaccaggtt gggaacatgc tggaaataaa acagctgcaa ccaaga
//
