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
//