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 //