LOCUS       NM_001395132             799 bp    mRNA    linear   ROD 05-AUG-2024
DEFINITION  Rattus norvegicus frataxin (Fxn), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001395132 XM_039087985
VERSION     NM_001395132.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 799)
  AUTHORS   Munoz-Zuluaga,C., Gertz,M., Yost-Bido,M., Greco,A., Gorman,N.,
            Chen,A., Kooner,V., Rosenberg,J.B., De,B.P., Kaminsky,S.M.,
            Borczuk,A., Ricart Arbona,R.J., Martin,H.R., Monette,S., Khanna,R.,
            Barth,J.A., Crystal,R.G. and Sondhi,D.
  TITLE     Identification of Safe and Effective Intravenous Dose of
            AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's
            Ataxia
  JOURNAL   Hum Gene Ther 34 (13-14), 605-615 (2023)
   PUBMED   37166361
REFERENCE   2  (bases 1 to 799)
  AUTHORS   Salami,C.O., Jackson,K., Jose,C., Alyass,L., Cisse,G.I., De,B.P.,
            Stiles,K.M., Chiuchiolo,M.J., Sondhi,D., Crystal,R.G. and
            Kaminsky,S.M.
  TITLE     Stress-Induced Mouse Model of the Cardiac Manifestations of
            Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy
  JOURNAL   Hum Gene Ther 31 (15-16), 819-827 (2020)
   PUBMED   32646255
REFERENCE   3  (bases 1 to 799)
  AUTHORS   Marelja,Z., Leimkuhler,S. and Missirlis,F.
  TITLE     Iron Sulfur and Molybdenum Cofactor Enzymes Regulate the Drosophila
            Life Cycle by Controlling Cell Metabolism
  JOURNAL   Front Physiol 9, 50 (2018)
   PUBMED   29491838
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 799)
  AUTHORS   Purroy,R., Britti,E., Delaspre,F., Tamarit,J. and Ros,J.
  TITLE     Mitochondrial pore opening and loss of Ca2+ exchanger NCLX levels
            occur after frataxin depletion
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1864 (2), 618-631 (2018)
   PUBMED   29223733
REFERENCE   5  (bases 1 to 799)
  AUTHORS   Schultz,R., Witte,O.W. and Schmeer,C.
  TITLE     Increased Frataxin Levels Protect Retinal Ganglion Cells After
            Acute Ischemia/Reperfusion in the Mouse Retina In Vivo
  JOURNAL   Invest Ophthalmol Vis Sci 57 (10), 4115-4124 (2016)
   PUBMED   27537261
REFERENCE   6  (bases 1 to 799)
  AUTHORS   t Hart,L.M., Ruige,J.B., Dekker,J.M., Stehouwer,C.D., Maassen,J.A.
            and Heine,R.J.
  TITLE     Altered beta-cell characteristics in impaired glucose tolerant
            carriers of a GAA trinucleotide repeat polymorphism in the frataxin
            gene
  JOURNAL   Diabetes 48 (4), 924-926 (1999)
   PUBMED   10102715
  REMARK    Erratum:[Diabetes 1999 Jul;48(7):1493]
REFERENCE   7  (bases 1 to 799)
  AUTHORS   Ristow,M., Giannakidou,E., Hebinck,J., Busch,K., Vorgerd,M.,
            Kotzka,J., Knebel,B., Mueller-Berghaus,J., Epplen,C., Pfeiffer,A.,
            Kahn,C.R., Doria,A., Krone,W. and Mueller-Wieland,D.
  TITLE     An association between NIDDM and a GAA trinucleotide repeat
            polymorphism in the X25/frataxin (Friedreich's ataxia) gene
  JOURNAL   Diabetes 47 (5), 851-854 (1998)
   PUBMED   9588463
REFERENCE   8  (bases 1 to 799)
  AUTHORS   Oliver,P.M., Fox,J.E., Kim,R., Rockman,H.A., Kim,H.S.,
            Reddick,R.L., Pandey,K.N., Milgram,S.L., Smithies,O. and Maeda,N.
  TITLE     Hypertension, cardiac hypertrophy, and sudden death in mice lacking
            natriuretic peptide receptor A
  JOURNAL   Proc Natl Acad Sci U S A 94 (26), 14730-14735 (1997)
   PUBMED   9405681
REFERENCE   9  (bases 1 to 799)
  AUTHORS   Durr,A., Cossee,M., Agid,Y., Campuzano,V., Mignard,C., Penet,C.,
            Mandel,J.L., Brice,A. and Koenig,M.
  TITLE     Clinical and genetic abnormalities in patients with Friedreich's
            ataxia
  JOURNAL   N Engl J Med 335 (16), 1169-1175 (1996)
   PUBMED   8815938
REFERENCE   10 (bases 1 to 799)
  AUTHORS   Campuzano,V., Montermini,L., Molto,M.D., Pianese,L., Cossee,M.,
            Cavalcanti,F., Monros,E., Rodius,F., Duclos,F., Monticelli,A.,
            Zara,F., Canizares,J., Koutnikova,H., Bidichandani,S.I.,
            Gellera,C., Brice,A., Trouillas,P., De Michele,G., Filla,A., De
            Frutos,R., Palau,F., Patel,P.I., Di Donato,S., Mandel,J.L.,
            Cocozza,S., Koenig,M. and Pandolfo,M.
  TITLE     Friedreich's ataxia: autosomal recessive disease caused by an
            intronic GAA triplet repeat expansion
  JOURNAL   Science 271 (5254), 1423-1427 (1996)
   PUBMED   8596916
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000001.1.
            
            On Jun 4, 2021 this sequence version replaced XM_039087985.1.
            
            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 :: SRR22582416.1522354.1, FN801161.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMN12840106 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               JAXUCZ010000001.1  231323806-231323989 c
            185-282             JAXUCZ010000001.1  231321702-231321799 c
            283-403             JAXUCZ010000001.1  231317340-231317460 c
            404-501             JAXUCZ010000001.1  231303390-231303487 c
            502-799             JAXUCZ010000001.1  231300457-231300754 c
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q51"
     gene            1..799
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /note="frataxin"
                     /db_xref="GeneID:499335"
                     /db_xref="RGD:1565754"
     exon            1..184
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..652
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /EC_number="1.16.3.1"
                     /codon_start=1
                     /product="frataxin, mitochondrial"
                     /protein_id="NP_001382061.1"
                     /db_xref="GeneID:499335"
                     /db_xref="RGD:1565754"
                     /translation="MWTFGRRAAAGLLPRTASRASAWVRNPRGRERIGTCGRRGLHVT
                     ANADAIRHSHLNLHYLGQILNIKKQSVCVVHLRNSGTLGNPSSLDETAYERLAEETLD
                     ALAEFFEDLADKPYTLKDYDVSFGDGVLTIKLGGDLGTYVINKQTPNKQIWLSSPSSG
                     PKRYDWTGKNWVYSHDGVSLHELLARELTEALNTKLDLSSLAYSGKGT"
     exon            185..282
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /inference="alignment:Splign:2.1.0"
     exon            283..403
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /inference="alignment:Splign:2.1.0"
     exon            404..501
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /inference="alignment:Splign:2.1.0"
     exon            502..799
                     /gene="Fxn"
                     /gene_synonym="RGD1565754"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggagcggccg ctgagtggga gtagcatgtg gacgttcgga cgccgcgcag ccgcgggctt
       61 gctgccccgg acggcctccc gggcctccgc ctgggtccgg aacccacgcg ggagggaacg
      121 gattggaacc tgcggccgcc gaggcctaca tgtcacagcc aacgccgacg ccatccgcca
      181 ctctcatttg aacctccact acctcggtca gattctgaac atcaaaaagc agagtgtctg
      241 cgtggtgcat ttgaggaact cggggacgtt gggcaaccca agctctctag acgagacagc
      301 ttatgaaaga cttgcggaag agacactgga cgccctggca gaattctttg aagaccttgc
      361 agacaagccc tacaccctga aggactatga tgtctctttt ggggatggcg tgctcaccat
      421 taagctgggc ggagatctag ggacctatgt gatcaacaag cagaccccaa acaagcaaat
      481 ctggttatct tctccctcca gtggccccaa gcgctatgac tggaccggga agaactgggt
      541 gtactcccat gacggcgtgt ctctgcatga gctgctggcc agggagctga ctgaagcttt
      601 aaacaccaaa ctggacttgt cttcattggc ctattctgga aagggcactt gactgctgtc
      661 cagattcgaa aacattaaaa actatcaggc aaagacccca gcctccttct atagctgaat
      721 gtctggtttc ccatacctgc ttccgaagat aatcacactg tgtgcaacaa ctctgtgaaa
      781 aaaagtgtgt tacctccca
//
