LOCUS       NM_008044               3007 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus frataxin (Fxn), transcript variant 1, mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_008044 XM_912511
VERSION     NM_008044.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3007)
  AUTHORS   Salinas,L., Montgomery,C.B., Figueroa,F., Thai,P.N.,
            Chiamvimonvat,N., Cortopassi,G. and Dedkova,E.N.
  TITLE     Sexual dimorphism in a mouse model of Friedreich's ataxia with
            severe cardiomyopathy
  JOURNAL   Commun Biol 7 (1), 1250 (2024)
   PUBMED   39363102
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3007)
  AUTHORS   Vicente-Acosta,A., Herranz-Martin,S., Pazos,M.R., Galan-Cruz,J.,
            Amores,M., Loria,F. and Diaz-Nido,J.
  TITLE     Glial cell activation precedes neurodegeneration in the cerebellar
            cortex of the YG8-800 murine model of Friedreich ataxia
  JOURNAL   Neurobiol Dis 200, 106631 (2024)
   PUBMED   39111701
REFERENCE   3  (bases 1 to 3007)
  AUTHORS   Sanz-Alcazar,A., Portillo-Carrasquer,M., Delaspre,F., Pazos-Gil,M.,
            Tamarit,J., Ros,J. and Cabiscol,E.
  TITLE     Deciphering the ferroptosis pathways in dorsal root ganglia of
            Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and
            GSK3beta in the impairment of the NRF2 response
  JOURNAL   Redox Biol 76, 103339 (2024)
   PUBMED   39243573
REFERENCE   4  (bases 1 to 3007)
  AUTHORS   Guo,Y., Cheng,X., Huang,C., Gao,J. and Shen,W.
  TITLE     Frataxin Loss Promotes Angiotensin II-Induced
            Endothelial-to-Mesenchymal Transition
  JOURNAL   J Am Heart Assoc 13 (15), e034316 (2024)
   PUBMED   39023059
  REMARK    GeneRIF: Frataxin Loss Promotes Angiotensin II-Induced
            Endothelial-to-Mesenchymal Transition.
REFERENCE   5  (bases 1 to 3007)
  AUTHORS   Della Valle,I., Milani,M., Rossi,S., Turchi,R., Tortolici,F.,
            Nesci,V., Ferri,A., Valle,C., Lettieri-Barbato,D., Aquilano,K.,
            Cozzolino,M., Apolloni,S. and D'Ambrosi,N.
  TITLE     Loss of homeostatic functions in microglia from a murine model of
            Friedreich's ataxia
  JOURNAL   Genes Dis 11 (6), 101178 (2023)
   PUBMED   39100202
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3007)
  AUTHORS   Dhe-Paganon,S., Shigeta,R., Chi,Y.I., Ristow,M. and Shoelson,S.E.
  TITLE     Crystal structure of human frataxin
  JOURNAL   J Biol Chem 275 (40), 30753-30756 (2000)
   PUBMED   10900192
REFERENCE   7  (bases 1 to 3007)
  AUTHORS   Cossee,M., Puccio,H., Gansmuller,A., Koutnikova,H., Dierich,A.,
            LeMeur,M., Fischbeck,K., Dolle,P. and Koenig,M.
  TITLE     Inactivation of the Friedreich ataxia mouse gene leads to early
            embryonic lethality without iron accumulation
  JOURNAL   Hum Mol Genet 9 (8), 1219-1226 (2000)
   PUBMED   10767347
REFERENCE   8  (bases 1 to 3007)
  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 3007)
  AUTHORS   Koutnikova,H., Campuzano,V., Foury,F., Dolle,P., Cazzalini,O. and
            Koenig,M.
  TITLE     Studies of human, mouse and yeast homologues indicate a
            mitochondrial function for frataxin
  JOURNAL   Nat Genet 16 (4), 345-351 (1997)
   PUBMED   9241270
REFERENCE   10 (bases 1 to 3007)
  AUTHORS   Jiralerspong,S., Liu,Y., Montermini,L., Stifani,S. and Pandolfo,M.
  TITLE     Frataxin shows developmentally regulated tissue-specific expression
            in the mouse embryo
  JOURNAL   Neurobiol Dis 4 (2), 103-113 (1997)
   PUBMED   9331900
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC165089.5 and AC149224.7.
            
            On Jul 21, 2018 this sequence version replaced NM_008044.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR7345562.948848.1, U95736.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               AC165089.5         74040-74223         c
            185-279             AC165089.5         70814-70908         c
            280-400             AC165089.5         65980-66100         c
            401-498             AC165089.5         60935-61032         c
            499-3007            AC149224.7         3961-6469
FEATURES             Location/Qualifiers
     source          1..3007
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 19.39 cM"
     gene            1..3007
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /note="frataxin"
                     /db_xref="GeneID:14297"
                     /db_xref="MGI:MGI:1096879"
     exon            1..184
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..649
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /EC_number="1.16.3.1"
                     /note="Friedreich ataxia; frataxin, mitochondrial"
                     /codon_start=1
                     /product="frataxin, mitochondrial precursor"
                     /protein_id="NP_032070.1"
                     /db_xref="CCDS:CCDS29711.1"
                     /db_xref="GeneID:14297"
                     /db_xref="MGI:MGI:1096879"
                     /translation="MWAFGGRAAVGLLPRTASRASAWVGNPRWREPIVTCGRRGLHVT
                     VNAGATRHAHLNLHYLQILNIKKQSVCVVHLRNLGTLDNPSSLDETAYERLAEETLDS
                     LAEFFEDLADKPYTLEDYDVSFGDGVLTIKLGGDLGTYVINKQTPNKQIWLSSPSSGP
                     KRYDWTGKNWVYSHDGVSLHELLARELTKALNTKLDLSSLAYSGKGT"
     exon            185..279
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /inference="alignment:Splign:2.1.0"
     exon            280..400
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /inference="alignment:Splign:2.1.0"
     exon            401..498
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /inference="alignment:Splign:2.1.0"
     exon            499..3007
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      796
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /note="major polyA site"
     regulatory      1300..1305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /note="hexamer: AAGAAA"
     polyA_site      1320
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
     regulatory      2628..2633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
                     /note="hexamer: AATAAA"
     polyA_site      2655
                     /gene="Fxn"
                     /gene_synonym="FA; FARR; Frda; X25"
ORIGIN      
        1 ggagcggccg cggagctgga gtagcatgtg ggcgttcgga ggtcgcgcag ccgtgggctt
       61 gctgccccgg acggcgtccc gggcctccgc ctgggtcggg aacccgcgct ggagggaacc
      121 gatcgtaacc tgcggccgcc gaggcctaca tgtcacagtc aacgccggcg ccacccgcca
      181 cgcccatttg aacctccact acctccagat tctgaacatc aaaaagcaga gcgtctgcgt
      241 ggtgcatttg aggaacttgg ggacattgga caacccaagc tctctagacg agacagcgta
      301 tgaaagactg gcggaagaga ccctggactc cctggccgag ttctttgaag acctcgcaga
      361 caagccctat accctggagg actacgatgt ctcttttggg gatggcgtgc tcaccattaa
      421 gctgggcggg gatctaggga cctacgtgat caacaagcag accccaaaca agcaaatctg
      481 gctgtcttct ccttccagcg gccccaagcg ctatgactgg accgggaaga actgggtgta
      541 ctctcatgac ggcgtgtctc tgcatgagct gctggccagg gagctgacta aagctttaaa
      601 caccaaactg gacttgtctt cattggccta ttctggaaaa ggcacttgac tgccagccag
      661 attccaagac attaaacact gtcaggtgaa gacccccagc ctcctcctgt agctgaatgt
      721 ctgccttccc atacctgctc ctgaagatag tcacaccgtg tgtgacagct ctgtgaaaaa
      781 agtgtgttcc ctcccaccct gtccccggac ctggctcttc atttctacag acatttgtta
      841 ggattatgtc atttgctccc caacctgaga cctctggtct cttagaaagt cttatatgct
      901 gggcagtggt ggcgcacgcc tttaatccca gcactcggga ggcagaggca ggcggatttc
      961 tgagttcgag gccagcctgg tctacagagt gagttccagg acagccagga ctacacagag
     1021 aaaccctgtc tcgaaaaaaa aaaaaaaaaa agaaagaaag aaagtcttac accacaagtg
     1081 tgtccatgat ataacagcct caaaatgtct tacactgtgt gtgctaataa cctacaccat
     1141 gtgtgctaat aacctcctga aaaggaaaaa ggctcagagg gagacatgag tcgttcccac
     1201 tcttccattg tctctgaaaa gatactctaa aagtaacttc taaatgtacc caagactcca
     1261 agtatgtaca cttctgagtc ctgagcagca aagagtcaaa agaaaccatc ttaaaatgcc
     1321 ctttcgtgct ttgtcaccta cactcggtac ccaggacctg gtgctattaa ctctgtgcct
     1381 tcatagtggg ggtcatttac acagttggca gctacgacat ggacctgaga tgtctgaaaa
     1441 ttttgaaaat tgagctgggc atggtggggc atgcctttaa tcccagcaat caggtggcag
     1501 aggcatgcag atatctcggt gagtttgagg ccagcctggt ctataaatcc aggagagtca
     1561 ggccaattac acagagaaac cctgtctaag gaaaatacga agaaaatttg agctggagag
     1621 atcacttagt ccacacaagc atgaagactc aagtttgatc ctaggcgtcc acgtttaaag
     1681 cccaggcata ttcttcactc ggaaagtgga gatgaggggc ttgcagcctc agcagtaagc
     1741 ctggggtctc tgagaaacac tatttcaaag aaggaaactt gcctggcttc agttgacctg
     1801 tcctacacat atgtgcacat gcactagtat agacataaac atgcacacaa attcacacat
     1861 gttaaataaa tgcagaaata actacaggca aggaggacag acaaaaatcc ctaccataaa
     1921 ccaaagaact aaacagtgtc atggagccga ggtctcggtt atccatgaga gagatgtctg
     1981 tactggtaca gagagcccgg cccttcattt ccaatctact cagggagagg gtagaatata
     2041 gctgatacct gacatccagt ggagtggacc tatcaggcca tccacaaagc tctccttgtt
     2101 cccactgggt aggtggaaga aatggtattg ttcttgctac tgctctgtta gaatttcaga
     2161 tgaattccta gggagctagc agctgcccct tgctctctct gctgaatccg gagcaccatt
     2221 gccctgcctt aagtgtgaca ggctgcgctt tgtactggaa gcaacacagc tccagaacac
     2281 ccacacggag caactctaaa ctcgggtttg tttcgggttc agttcgtttc taactgaagg
     2341 aaaattgaga gcagggactc tagcccagtg tgaaggcttg cctagcatgc agaagggccc
     2401 taaagttcca tccccacact acaaagggct gagagatttg tcagtgacaa ctcttatgca
     2461 aatgcccagc agaggctatg cagggtgaac tgaacacatt acatcataga caaaacaatg
     2521 gaacagtgta aacaggctaa gtgactattt aagatatttc cttcttcaca attttttttt
     2581 tagtctggtg gaaatttttg agtggtgtaa gtcggtgcta gagagataat aaataggacc
     2641 atgtgtggac atgcctatgg gtgtcccttt gtcttcttat gaaagacaca cacacacccc
     2701 acaccccgct tgacccttat cagaccttca gaatgtgcac agggcgcgtt ctgaatgtgt
     2761 atggacgtta gggagtcaga tgttatgggc tcctcctgga ccagtttttg gacttcttaa
     2821 ctttcacttt atgtatttct ctgactgggt ttcaaggcag cctcgatcac acttaagaga
     2881 gagtatgaac actgtgttgt gtgagtcaag tcattctgaa ctccaggcat ggggatgctc
     2941 ttctgtagtc ctggcacttt gaactccaag gctcaaaggt aaaagaagga tggaagtttg
     3001 gacttga
//
