LOCUS AF321613 1564 bp mRNA linear HUM 06-FEB-2001 DEFINITION Homo sapiens GIBT protein (C3orf5) mRNA, complete cds. ACCESSION AF321613 VERSION AF321613.1 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 1564) 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 1564) AUTHORS Crisponi,L., Loi,A., Deiana,M., Chiappe,F., Uda,M., Schlessinger,D., Nagaraja,R., Cao,A. and Pilia,G. TITLE Direct Submission JOURNAL Submitted (15-NOV-2000) Lab. Genoma Umano, IRTAM-CNR, via Jenner s/n, Cagliari, CA 09121, Italy FEATURES Location/Qualifiers source 1..1564 /db_xref="H-InvDB:HIT000077394" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q23" gene 1..1564 /gene="C3orf5" CDS 433..1515 /gene="C3orf5" /note="gene interrupted in a blepharophimosis/ptosis/epicanthus (BPES) translocation" /codon_start=1 /product="GIBT protein" /protein_id="AAK01406.1" /translation="MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSF EMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPT YKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTD ISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTM YSQDRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFV NNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKT EAQKGAYIELTLQTYQEALSRHSAAS" BASE COUNT 461 a 365 c 386 g 352 t ORIGIN 1 cctcttcctg ggcggcgatc tctgggacag atgcgcagaa gacttcctgc tcaacgacga 61 cgtcctccct gagagcgccc aggaaaacgt ccacttccag cccagcagag gagtcgtcct 121 gcgctcctga gcgttcgtcg acagagctca ggaggacctc tgggatcagg atgagggtgt 181 gtccatcgag agacactcgc aggatcgacg ttggcgggag ctccagcacc aggtcgacgt 241 cgtccagggg cacacgcagg gcacagcccg cggccaggac cactatggag cactttgagt 301 atatcatccc actgtctcct ggagggcaag attcagcctt aagggggttc ccttgtatgt 361 gagtgctgca agaactgggt gtgactcgga atccctccca accacttccg gcgcaagtgg 421 cttctgataa tcatggcgcc cctcggaaca actgtattgc tgtggagcct cttgaggagt 481 tctccgggcg tggaacgggt ctgtttccgg gctcgaatcc agccctggca cggtggcctg 541 ctccaaccgc taccttgctc tttcgagatg gggctgccac gccgccggtt cagctccgag 601 gccgcagaat ctggtagccc agagaccaag aaacctacat ttatggatga ggaagttcaa 661 agcatactca cgaaaatgac aggcttgaac ttgcagaaga cttttaagcc agctatacaa 721 gaactgaagc caccaaccta taagctaatg actcaggcac agttggaaga ggctacaaga 781 caggcagttg aggcagctaa agtacgatta aaaatgccac cagttctgga agagcgagta 841 ccaataaatg atgtgttagc tgaagataag attttggaag gaacagaaac aaccaaatat 901 gtgtttactg atatatcata tagcatacca caccgggagc gttttattgt cgtcagagaa 961 ccaagtggca cactacgcaa agcctcttgg gaagaacggg accgaatgat acaagtttat 1021 ttcccaaaag aaggtcgtaa aattttgaca ccaataattt tcaaggaaga aaatcttagg 1081 actatgtata gccaggacag gcatgttgat gtcctcaatc tctgctttgc ccagtttgag 1141 ccagattcca cagagtatat caaggttcat cacaagacct atgaagatat agataaacgt 1201 ggaaaatatg accttttacg ttcaacaaga tactttggtg gaatggtgtg gtattttgta 1261 aataataaaa agattgatgg tttgctgatt gaccagattc agagagattt aatcgatgat 1321 gcaaccaact tggtccagct gtatcacgtg ctccatccag atggccagtc ggctcaaggg 1381 gccaaggatc aggctgctga gggaataaat ttaatcaagg tctttgcaaa aacagaagca 1441 cagaagggag cctatataga actaacactg cagacttatc aagaagcact cagtcgccat 1501 tctgcagctt cctaaaaata ttttaaaaat acatttattt taccaaaaaa aaaaaaaaaa 1561 aaaa //