LOCUS       AF301906                2745 bp    mRNA    linear   HUM 06-FEB-2001
DEFINITION  Homo sapiens forkhead transcription factor FOXL2 (FOXL2) mRNA,
            complete cds.
ACCESSION   AF301906
VERSION     AF301906.1
KEYWORDS    .
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 2745)
  AUTHORS   Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Amati,P.,
            Bisceglia,L., Zelante,L., Nagaraja,R., Porcu,S., Ristaldi,M.S.,
            Marzella,R., Rocchi,M., Nicolino,M., Lienhardt-Roussie,A.,
            Nivelon,A., Verloes,A., Schlessinger,D., Gasparini,P., Bonneau,D.,
            Cao,A. and Pilia,G.
  TITLE     The putative forkhead transcription factor FOXL2 is mutated in
            blepharophimosis/ptosis/epicanthus inversus syndrome
  JOURNAL   Nat. Genet. 27 (2), 159-166 (2001)
   PUBMED   11175783
REFERENCE   2  (bases 1 to 2745)
  AUTHORS   Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Ramaja,N.,
            Schlessinger,D., Cao,A. and Pilia,G.
  TITLE     Direct Submission
  JOURNAL   Submitted (30-AUG-2000) Lab. Genoma Umano, IRTAM-CNR, via Jenner
            s/n, Cagliari, CA 09121, Italy
FEATURES             Location/Qualifiers
     source          1..2745
                     /db_xref="H-InvDB:HIT000076673"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..2745
                     /gene="FOXL2"
     CDS             238..1368
                     /gene="FOXL2"
                     /note="mutated in blepharophimosis/ptosis/epicanthus
                     inversus syndrome; PINTO"
                     /codon_start=1
                     /product="forkhead transcription factor FOXL2"
                     /protein_id="AAK01352.1"
                     /db_xref="GI:12667205"
                     /translation="MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGT
                     APEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSI
                     RHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHF
                     QPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASC
                     QMAAAAAAAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNG
                     LGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPA
                     PAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL"
BASE COUNT          491 a          920 c          836 g          498 t
ORIGIN      
        1 tgggcggact ccccatggcc agaggctgag ctccactccc gccggccgct ccctagggga
       61 aggggaagga gaggggagag cagcgacagg cctccagcaa gcaagcgcgg gcggcatccg
      121 cagtctccag aagtttgaga cttggccgta agcggactcg tgcgccccaa ctctttgccg
      181 cgccagcgcc tggagcggag agcagaggcg gcccggccgc ggcgcgccgg ctttgtcatg
      241 atggccagct accccgagcc cgaggacgcg gcgggggccc tgctggcccc agagaccggt
      301 cgcacagtca aggagccaga agggccgccg ccgagcccag gcaagggcgg tgggggtggc
      361 ggcgggacag ccccggagaa gccggacccg gcgcagaagc ccccgtactc gtacgtggcg
      421 ctcatcgcca tggcgatccg cgagagcgcg gagaagaggc tcacgctgtc cggcatctac
      481 cagtacatca tcgcgaagtt cccgttctac gagaagaata agaagggctg gcaaaatagc
      541 atccgccaca acctcagcct caacgagtgc ttcatcaagg tgccgcgcga gggcggcggc
      601 gagcgcaagg gcaactactg gacgctggac ccggcctgcg aagacatgtt cgagaagggc
      661 aactaccggc gccgccgccg catgaagagg cccttccggc cgccgcccgc gcacttccag
      721 cccggcaagg ggctcttcgg ggccggaggc gccgcaggcg ggtgcggcgt ggcgggcgcc
      781 ggggccgacg gctacggcta cctggcgccc cccaagtacc tgcagtctgg cttcctcaac
      841 aactcgtggc cgctaccgca gcctccctca cccatgccct atgcctcctg ccagatggcg
      901 gcagccgcag cggctgcagc agctgcggct gcagccgcgg gccccggtag ccctggcgcg
      961 gccgctgtgg tcaaggggct ggcgggcccg gccgcctcgt acgggccgta cacacgcgtg
     1021 cagagcatgg cgctgccccc cggcgtagtg aactcgtaca atggcctggg aggcccgccg
     1081 gccgcacccc cgcctccgcc gcacccccac ccgcatccgc acgcacacca tctgcacgcg
     1141 gccgccgcac cgccgcctgc cccaccgcac cacggggccg ccgcgccgcc gccgggccag
     1201 ctcagccctg ccagcccagc caccgccgcg cccccggcgc ccgcgcccac cagtgcgccg
     1261 ggcctgcagt tcgcttgtgc ccggcagccc gagctcgcca tgatgcattg ctcttactgg
     1321 gaccacgaca gcaagaccgg cgcgctgcat tcgcgcctcg atctctgaga gcccaccgca
     1381 tgccggtgca gacggatgcg aggatgcagg gacgcgcgac gccggccccg gtcgcagccg
     1441 acgacgccgc cgccagcctg acctcacacc ctctgggccc gcctctggag ccagcgccca
     1501 gggtccctct gtgctttttc gctttcctaa gctcctgtcg ctcctctttg tcccctcagt
     1561 ttatgtcctc ctgtgctcac ctccctgacc tctgtgacct tgcactcccc tggcctgaag
     1621 ctgcctctct gcgcgctttc tactgggctc gtctctttcc ggagccccag cgtctcctgc
     1681 ccaaattcac cgcggaaagg gcccggggcg gaggtgcgac cgggcgtcgg cagcgcagac
     1741 ctcttggcct tctctcacag gtcggtgcgc tcgctctccg cgttccccgc ccgactgccg
     1801 tgcagtccat ggctagacgc gccggacagg actgatggcg ggaccgcgct gcccgagaaa
     1861 gggacggacc aatacgtgtg tttgctccgc gaaccctctt gaagctgttc agaagccgct
     1921 tgccgcgggg cccactaggc ggggcggggg ttgggaccca gcgggagccg gggcagcctg
     1981 gctccacggc ctgtactcgg tttacaccgc gggcggcgcg agggaggctg cgtttcctcc
     2041 gctatcagtc ccgtcgcttc gggcacctcc ggccccggcg gctggctaat gttttgtttg
     2101 aaagatcggt ggaacttttt aagagagtat ttaaaaaaaa aaaaaaaaaa caaaaaaaat
     2161 tcaccgggca accggggaag tattgtggcc ttggagtttg ctaaatccaa atatgaaaat
     2221 caaaagcttt agtattcctc atcttctctt ctggaagatt tgcgttagag tttttgttgg
     2281 gccttcaaaa agctgtgttc agagttagga gaatatatcc aataaaagat ggtttcgtct
     2341 accaattggg gaagtttcac cctctcccta tctgaagaaa aaaatcaaaa acaaatgtcc
     2401 ccggatcttt cgatgcaagt cctggaggca gggagatcac tgcctgcctg gcccacgctg
     2461 ctgggacggc tcgtcctccc tgctttttgt ttttcaaacc tcctgcttct cccaccttgg
     2521 gaaggagaaa tgtgaaaccc ggcagcggcc gacctaggcg gtcttgtggc ccggagccgg
     2581 cccggcccga aaaccataga cctggttgta ctgtagcttg ttgtttgggg gaccaaattt
     2641 tctagagaga actagagcac ttttgttgtg tttttttgtt ttgtttttgt tttttgcctt
     2701 gtcgttcccg aataaatttt gtgttccttc ttttaaaaaa aaaaa
//