LOCUS       AH003505S5               538 bp    DNA     linear   HUM 11-OCT-2005
DEFINITION  Homo sapiens frataxin (FRDA) gene, exon 5a.
ACCESSION   U43752
VERSION     U43752.1
KEYWORDS    .
SEGMENT     5 of 6
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 538)
  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., 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
REFERENCE   2  (bases 1 to 538)
  AUTHORS   Koenig,M. and Pandolfo,M.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-DEC-1995) Massimo Pandolfo, Neurology-NB424, Baylor
            College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
FEATURES             Location/Qualifiers
     source          1..538
                     /organism="Homo sapiens"
                     /mol_type="genomic DNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q13"
     CDS             join(U43748.1:635..799,U43749.1:669..766,U43750.1:51..171,
                     U43751.1:74..171,53..203)
                     /gene="FRDA"
                     /note="Friedreich's ataxia protein; uses alternative exon
                     5a"
                     /codon_start=1
                     /product="frataxin"
                     /protein_id="AAA98508.1"
                     /db_xref="GI:1218024"
                     /translation="MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRT
                     DIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEET
                     LDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPS
                     SGPKRYDWTGKNWVFSHDGVSLHELLAAELTKALKTKLDLSWLAYSGKDA"
     exon            53..538
                     /gene="FRDA"
                     /number=5a
     3'UTR           104..538
                     /gene="FRDA"
     polyA_signal    520..524
                     /gene="FRDA"
BASE COUNT          132 a          116 c          113 g          177 t
ORIGIN      
        1 tcatctgaag ggctgtgctg tggaattact atgcatttgt tttgtcttcc agtggaccta
       61 agcgttatga ctggactggg aaaaactggg tgttctccca cgacggcgtg tccctccatg
      121 agctgctggc cgcagagctc actaaagcct taaaaaccaa actggacttg tcttggttgg
      181 cctattccgg aaaagatgct tgatgcccag ccccgtttta aggacattaa aagctatcag
      241 gccaagaccc cagcttcatt atgcagctga ggtgtgtttt ttgttgttgt tgttgtttat
      301 tttttttatt cctgcttttg aggacacttg ggctatgtgt cacagctctg tacaaacaat
      361 gtgttgcctc ctaccttgcc cccaagttct gatttttaat ttctatggaa gattttttgg
      421 attgtcggat ttcctccctc acatgatacc ccttatcttt tataatgtct tatgcctata
      481 cctgaatata acaaccttta aaaaagcaaa ataataagaa ggaaaaattc caggaggg
//