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"
/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
//