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2024-03-29 16:12:09, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001195308            4589 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1),
            transcript variant 3, mRNA.
ACCESSION   NM_001195308
VERSION     NM_001195308.1  GI:305855077
KEYWORDS    RefSeq.
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 4589)
  AUTHORS   Singh,U., Roswall,P., Uhrbom,L. and Westermark,B.
  TITLE     CGGBP1 regulates cell cycle in cancer cells
  JOURNAL   BMC Mol. Biol. 12, 28 (2011)
   PUBMED   21733196
  REMARK    GeneRIF: CGGBP1 depletion by RNA interference in tumor-derived
            cells caused an increase in the cell population at G0/G1 phase and
            reduced the number of cells in the S phase.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4589)
  AUTHORS   Gulyi,P.V., Orlov,S.V., Dizhe,E.B., Kuteikin-Tepliakov,K.B.,
            Ignatovich,I.A., Zhuk,S.V. and Perevozchikov,A.P.
  TITLE     [The role of ZF5 and CGGBP-20 transcription factors in expression
            regulation of human FMR1 gene responsible for X-fragile syndrome]
  JOURNAL   Tsitologiia 51 (12), 1005-1012 (2009)
   PUBMED   20141036
  REMARK    GeneRIF: CGGBP-20 downregulates the activity of 5'-region of FMR1
            gene in the presence of GCC-triplets only.
REFERENCE   3  (bases 1 to 4589)
  AUTHORS   Arrieta,I., Telez,M., Huerta,I., Flores,P., Criado,B.,
            Ramirez,J.M., Barasoain,M. and Gonzalez,A.J.
  TITLE     Fragile X gene stability in Basque Valleys: prevalence of
            premutation and intermediate alleles
  JOURNAL   Hum. Biol. 80 (6), 593-600 (2008)
   PUBMED   19728537
  REMARK    GeneRIF: Differences in factors implicated in CGG repeat
            instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG
            interspersion pattern-are present in the Basque populations
            analyzed.
REFERENCE   4  (bases 1 to 4589)
  AUTHORS   Naumann,F., Remus,R., Schmitz,B. and Doerfler,W.
  TITLE     Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein
            (CGGBP1)
  JOURNAL   Genomics 83 (1), 106-118 (2004)
   PUBMED   14667814
  REMARK    GeneRIF: CGGBP1 was mapped to chromosome 3p and a sequence of 235
            nucleotides 5' upstream of CGGBP1 is essential for promoter
            activity.
REFERENCE   5  (bases 1 to 4589)
  AUTHORS   Chen,L.S., Tassone,F., Sahota,P. and Hagerman,P.J.
  TITLE     The (CGG)n repeat element within the 5' untranslated region of the
            FMR1 message provides both positive and negative cis effects on in
            vivo translation of a downstream reporter
  JOURNAL   Hum. Mol. Genet. 12 (23), 3067-3074 (2003)
   PUBMED   14519687
REFERENCE   6  (bases 1 to 4589)
  AUTHORS   Muller-Hartmann,H., Deissler,H., Naumann,F., Schmitz,B., Schroer,J.
            and Doerfler,W.
  TITLE     The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the
            nucleus and affects the activity of the FMR1 promoter
  JOURNAL   J. Biol. Chem. 275 (9), 6447-6452 (2000)
   PUBMED   10692448
REFERENCE   7  (bases 1 to 4589)
  AUTHORS   Deissler,H., Wilm,M., Genc,B., Schmitz,B., Ternes,T., Naumann,F.,
            Mann,M. and 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
REFERENCE   8  (bases 1 to 4589)
  AUTHORS   Deissler,H., Behn-Krappa,A. and Doerfler,W.
  TITLE     Purification of nuclear proteins from human HeLa cells that bind
            specifically to the unstable tandem repeat (CGG)n in the human FMR1
            gene
  JOURNAL   J. Biol. Chem. 271 (8), 4327-4334 (1996)
   PUBMED   8626781
REFERENCE   9  (bases 1 to 4589)
  AUTHORS   Meijer,H., de Graaff,E., Merckx,D.M., Jongbloed,R.J., de
            Die-Smulders,C.E., Engelen,J.J., Fryns,J.P., Curfs,P.M. and
            Oostra,B.A.
  TITLE     A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene
            causes the clinical phenotype of the fragile X syndrome
  JOURNAL   Hum. Mol. Genet. 3 (4), 615-620 (1994)
   PUBMED   8069307
REFERENCE   10 (bases 1 to 4589)
  AUTHORS   Hornstra,I.K., Nelson,D.L., Warren,S.T. and Yang,T.P.
  TITLE     High resolution methylation analysis of the FMR1 gene trinucleotide
            repeat region in fragile X syndrome
  JOURNAL   Hum. Mol. Genet. 2 (10), 1659-1665 (1993)
   PUBMED   8268919
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC005222.1, AC119733.2 and BC052980.1.
            
            Summary: CGGBP1 influences expression of the FMR1 gene (MIM
            309550), which is associated with the fragile X mental retardation
            syndrome (MIM 300624), by specifically interacting with the 5-prime
            (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. All three variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BE565654.1, BC005222.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-937               BC005222.1         20-956
            938-1553            AC119733.2         68127-68742         c
            1554-4589           BC052980.1         1368-4403
FEATURES             Location/Qualifiers
     source          1..4589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12-p11.1"
     gene            1..4589
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="CGG triplet repeat binding protein 1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:1888"
                     /db_xref="MIM:603363"
     exon            1..156
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:1.39.8"
     exon            157..265
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:1.39.8"
     exon            266..470
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:1.39.8"
     variation       460
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:8274"
     misc_feature    464..466
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="upstream in-frame stop codon"
     exon            471..4520
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:1.39.8"
     CDS             494..997
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="p20-CGG binding protein; CGG-binding protein 1; 20
                     kDa CGG-binding protein; p20-CGGBP DNA-binding protein"
                     /codon_start=1
                     /product="CGG triplet repeat-binding protein 1"
                     /protein_id="NP_001182237.1"
                     /db_xref="GI:305855078"
                     /db_xref="CCDS:CCDS43111.1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:1888"
                     /db_xref="MIM:603363"
                     /translation="
MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTSCNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVSVIQDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQLLNSQDC
"
     misc_feature    659..661
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9UFW8.2); phosphorylation site"
     misc_feature    731..745
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFW8.2);
                     Region: Nuclear localization signal (Potential)"
     misc_feature    983..985
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9UFW8.2); phosphorylation site"
     variation       1011
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1053231"
     variation       1209
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1006896"
     variation       1688
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1063597"
     variation       2862..2863
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28362507"
     variation       2863
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1051383"
     STS             3082..3267
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /standard_name="D3S2962E"
                     /db_xref="UniSTS:150946"
     variation       3327
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11128020"
     variation       3926
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1051413"
     variation       4069
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1063603"
     variation       4090
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1051436"
ORIGIN      
gtggttccgggctggggacggagtgaagtcccacgtatctcaattaagggaagtgctgggtttatatggagaacatagactatccgcaagggagctggttaccgaaagagaagtccctcctccaaaagagcgccttggagggctgcgcaggtgcagatacctctactaagaagacagaagacttactttcatcatctgaatcaaatccaaagagtgtctgacatttcttttgtgcaagatgagcctcaagtgcttctgcattacataaaggcatgacttcctggcaccacagggaaaatcgggtgcaagcccagaaactatttccccaccaccacttgttgaaaaactgatttgaaggcatctccggggttgaacaaacggaaagtgccaggatttgatgcgtctctggtttcgctctggagaccattccctgctaagtatcaagacgaaaaaaactggaaactaatccgaaccatatttatttagagtcagaatggagcgatttgtagtaacagcaccacctgctcgaaaccgttctaagactgctttgtatgtgactcccctggatcgagtcactgagtttggaggtgagctgcatgaagatggaggaaaactcttctgcacttcttgcaatgtggttctgaatcatgttcgcaagtctgccattagtgaccacctcaagtcaaagactcataccaagaggaaggcagaatttgaagagcagaatgtgagaaagaagcagaggcccctaactgcatctcttcagtgcaacagtactgcgcaaacagagaaagtcagtgttatccaggactttgtgaaaatgtgcctggaagccaacatcccacttgagaaggctgatcacccagcagtccgtgctttcctatctcgccatgtgaagaatggaggctccatacctaagtcagaccagctacggagggcatatcttcctgatggatatgagaatgagaatcaactcctcaactcacaagattgttgactaggaggttaccaccattgtgatcaagataaatgtggagtattaaagttatgtgttgattgtgtggttcatttttgtatttatttcatttaaaatcatgtgacgcagaatagttttgcaatgtgtatatagttgcaggcaaaaaaaaaaccacctcactgcaaaacttattgttaattttagtcaccaatggtataaagcaaaacctaggtttagagtgtgctaggatacctgaaacctgatggttatctttaaaattaatggtttttctcctgaaatgtttgtgcatggaagaactgccctgcttttttaccctgttgccatgtatgattattccttgtgagattacttaattacttggattgaagactagcctattgaagctgctgccaggcaacaccacttaacagtaacttaaaggaattattttctttagaggatcctcttcaaaaaggaagggagatagtggaaaactgttcttatatcttcagatccctagcagaaatgactgtttatttcaaactatgttttacttgtatatgatgtagtcaccttaactatctttcaattccatacttcccccgcccccattttaaaggcttattgttgtattttgtagcagcttcaagtgaccaaaagactaaaatctttcaacgtcaatgccaaaagccaaggggaattttgcagtgacaggattttagtctcttactatgaatactaatttcgaaccatagctttcattttaagcatcatcttgaatttctaaacttttttctatgtcttggtgttaaaagatttcaagattggcatttttacttaaacagacattttatggttgagttttctctttattatagagaattagtaatttttttttggctgacagatcagataaaattactttctattcattaatttttctctacaactttatgagtttatttaggtgaatagtctagactagaaacaagtttactttatctgctttgcctctggtggtacaaggtttttaacatggatggtaaacaattgtctagaaattctggcaggttttttgtattggagatctggcagtatcctgcataactttgggtgaggaaattgttctcttaaagatcagccatgttcaggaaatgatctctgtttgaacctcactatcctgtaaggttatccaagtagcttagcccagctaagttctatcagagacccaaattatattttttaaaaatttaacagctggaaacttggactagagctttaataaaaaatcttaaattctttgaaattcaagttaaaaatacttatatatttctattacaaagcagtgacaaatgatgccctgtgtgacttggagttatctttgacttttaccacaaatcttcatttataaaagaaaaagccaaagtgaaaaaaagttagattgtgtatttttcagtaacagctttccatgtcttaagatttttttacagacttaagtttctaattcaggttgtcaaactggccatttgacttcagagatttgttttcattaaaaaataagcctgccgccaaaataaatcacttatcaaaatgtgaactgttttcctcatgttcagttatgttaaagtagtatgataaatgcatgcctagagtagtgctctcgttgatgaagcacatgtatgaggagaccagcagcaaaacataaccatatgtgttttgcgtttacttcctctagaaaagaatttgcaggcaaccatgtttaatttgaactatctaagatggtagattttagaagctaggaataattgagttttatagcactattttcagaatacgaaaagatacacaatcattctgttttttgaaattccatgtgattcaaactgctccctattatttgggtattaatttgcactaatagcaaaatgtaatggcagatcagctttgagagtggtcctaagcagtaaactggatgatgttgcattagaaaaacatcaataattcatatttaagttttagtagttactactgatttgataatcacttaaattttatatatcttaatgtattttttcagactcctaattaattcccacattcactgtaactaggggcatagtccattctgttaggattatatcctctccttagaaatgttttccatcctgttgtggggatttggtattaatgtttcttcattgattatggaacttttgttccctgaagctagttaactgtgtctaaagttaaataaatacagcagaatgattgttttagcctgctcgaactgatacaaatccctgaaaccatgattggcatatgttagataacaaatgaggatgtctaagaggcatatgctgctttggaggtgtagtgaacgtgtgtacagaagttttcaatcttaactatatagtgttagtgtgatgctatactattggaaaaatagcagcttttttctattttataagttgtatgcataaacataagatttgtaatgtttcatttataaactgccttcttcaacacatgttaatagtgttttctcaaagtattgatagtatgtcttccagaatttcacaatatgcttacagtaaatatttcctagcttgttgaaatgttcaattctttgttggctttcttcttgattctgtgggggtgtataacaagcctgaaggacattgtaatcatttcttacaaggtgaaaattaagaaagattgtgtatgagagcctatatagttgttttatccattatcatctttgattaagactttaaaaaaatgctatttccagttaatgcatttggccctattgaattttcagggaccagaaaacattaaaaagttctgcatcttataatggtaaccaattaagcttgagattgttctgaaagtatcaattgctttaaaactgttgtaagtacagttggcaagatctccaagctgaaacttccacgttaaaacttttgcctgtaagaatttgcacatgaatgttaatggaaaacacaaaacttaagatggcccaaaacaaaagccacaaacagttcatcatttggtgcttagtctttgtaagggctctctgtggtttgacttaccccagctaccgttaaatgaggacaaatcaccttaaaacatgttcatttgattcataacaaggaaaattgggtctatgattttttgccaatcttagcctaaaagaaattgctttagcttctggtcagcactgattaaaatgtgaatagtgaagtggctatcctaaactggtttatctccacccacactatcatagatttcttaggtaaatacaattcttatctagtggtattctacttgtattcagaatactgtattaaaattttactatttcatttttgtattctgtgcttattttttttgctcacgcatgtatgcttagtataaatgtgtcacttctaaagttttgtctctgacttttagaaataaatttcagaaaaattgtttcaaaagattttgaaagcacattttgttttgtgagtcaatgacaaatatatttcctgattacaaaacaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:8545 -> Molecular function: GO:0003690 [double-stranded DNA binding] evidence: TAS
            GeneID:8545 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:8545 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
            GeneID:8545 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:8545 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA

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