LOCUS       AJ000258                 779 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo sapiens trinucleotide repeat 5-d(CGG)n-3ds binding protein
            p20-CGGBP.
ACCESSION   AJ000258
VERSION     AJ000258.1
KEYWORDS    CGGBP gene; DNA binding protein; trinucleotide repeat.
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 779)
  AUTHORS   Deissler H.
  JOURNAL   Submitted (15-JUL-1997) to the INSDC. Deissler H., Department for
            Medical Genetics and Virology, Institute of Genetics, University of
            Cologne, Weyertal 121, NRW, D-50931 Cologne, GERMANY.
REFERENCE   2  (bases 1 to 779)
  AUTHORS   Deissler H., Wilm M., Genc B., Schmitz B., Ternes T., Naumann F.,
            Mann M., Doerfler W.
  TITLE     Rapid protein sequencing by tandem mass spectrometry and cDNA
            cloning of p20-CGGBP. A novel protein that binds to the unstable
            triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene
  JOURNAL   J Biol Chem 272(27), 16761-16768(1997).
   PUBMED   9201980
COMMENT     EST clone ID269133  genbank accession no. N36676 and N24697
FEATURES             Location/Qualifiers
     source          1..779
                     /db_xref="H-InvDB:HIT000243799"
                     /organism="Homo sapiens"
                     /chromosome="3"
                     /mol_type="mRNA"
                     /sex="male"
                     /clone_lib="soares melanocytes 2NbHM"
                     /cell_type="melanocytes"
                     /db_xref="taxon:9606"
     CDS             197..700
                     /codon_start=1
                     /gene="CGGBP"
                     /product="p20-CGGBP"
                     /function="DNA binding protein"
                     /note="p20-CGGBP binds highly sequence-specific to the
                     double-stranded triplet repeat 5-d(CGG)n-3. Binding is
                     severely inhibited by cytosine-specific DNA-methylation.
                     p20-CGGBP was isolated from human HeLa cells, three
                     internal peptides were sequenced that were completely
                     contained in the corrected sequence of EST clone ID269133
                     (genbank acc.-No: N36676, N24697). The derived aa sequence
                     lacks any overall homology to any known protein. p20-CGGBP
                     RNA is expressed in a variety of human tissues. The
                     cDNA-sequence of p20-CGGBP is highly conserved among
                     mammals. Sequenced Peptides: peptide1: aa 4 to 12
                     FVVTAPPAR peptide2: aa 19 to 21 LYV peptide3: aa 101 to
                     104 VSVIQ putative nuclear localization signal: aa 69 to
                     84"
                     /db_xref="GOA:Q9UFW8"
                     /db_xref="H-InvDB:HIT000243799.13"
                     /db_xref="HGNC:HGNC:1888"
                     /db_xref="InterPro:IPR033375"
                     /db_xref="UniProtKB/Swiss-Prot:Q9UFW8"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /protein_id="CAA03974.1"
                     /translation="MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCT
                     SCNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVS
                     VIQDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQ
                     LLNSQDC"
     regulatory      729..732
                     /gene="CGGBP"
                     /regulatory_class="polyA_signal_sequence"
     polyA_site      759
                     /gene="CGGBP"
BASE COUNT          242 a          161 c          175 g          201 t
ORIGIN      
        1 ggcacgaggg tttcgctctg gagaccattc cctgctaagt atcaagacga aaaaaactgg
       61 aaactaatcc gaatttctgt ggaatgttta atcttctgga tccatgactg tctgatacgt
      121 tggcaattta aagtcctttt gaaagagagt tcatgttacc cagctattct ctaaaccata
      181 tttatttaga gtcagaatgg agcgatttgt agtaacagca ccacctgctc gaaaccgttc
      241 taagactgct ttgtatgtga ctcccctgga tcgagtcact gagtttggag gtgagctgca
      301 tgaagatgga ggaaaactct tctgcacttc ttgcaatgtg gttctgaatc atgttcgcaa
      361 gtctgccatt agtgaccacc tcaagtcaaa gactcatacc aagaggaagg cagaatttga
      421 agagcagaat gtgagaaaga agcagaggcc cctaactgca tctcttcagt gcaacagtac
      481 tgcgcaaaca gagaaagtca gtgttatcca ggactttgtg aaaatgtgcc tggaagccaa
      541 catcccactt gagaaggctg atcacccagc agtccgtgct ttcctatctc gccatgtgaa
      601 gaatggaggc tccataccta agtcagacca gctacggagg gcatatcttc ctgatggata
      661 tgagaatgag aatcaactcc tcaactcaca agattgttga ctaggaggtt accaccattg
      721 tgatcaagat aaatgtggag tattaaagtt atgtgttgaa aaaaaaaaaa aaaaaaact
//