2024-04-25 10:03:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001008390 4608 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA. ACCESSION NM_001008390 VERSION NM_001008390.1 GI:56550054 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 4608) 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 BU537042.1, BE501563.1, AJ000258.1, AL117392.1 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 (1) represents the longest transcript. All three variants encode the same protein. 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 :: BG435137.1, BU838652.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-78 BU537042.1 4-81 79-608 BE501563.1 1-530 609-1075 AJ000258.1 293-759 1076-1477 AL117392.1 919-1320 1478-1567 BC052980.1 1278-1367 1568-1706 AL117392.1 1409-1547 1707-4608 BC052980.1 1502-4403 FEATURES Location/Qualifiers source 1..4608 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p12-p11.1" gene 1..4608 /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..182 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /inference="alignment:Splign:1.39.8" variation 158 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="c" /replace="g" /db_xref="dbSNP:10858" exon 183..387 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /inference="alignment:Splign:1.39.8" variation 377 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:8274" exon 388..489 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /inference="alignment:Splign:1.39.8" misc_feature 456..458 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /note="upstream in-frame stop codon" exon 490..4539 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /inference="alignment:Splign:1.39.8" CDS 513..1016 /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_001008391.1" /db_xref="GI:56550055" /db_xref="CCDS:CCDS43111.1" /db_xref="GeneID:8545" /db_xref="HGNC:1888" /db_xref="MIM:603363" /translation="
MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTSCNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVSVIQDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQLLNSQDC
" misc_feature 678..680 /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 750..764 /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 1002..1004 /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 1002..1004 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" variation 1030 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="a" /replace="c" /db_xref="dbSNP:1053231" polyA_signal 1045..1048 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" polyA_site 1075 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" variation 1228 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="g" /replace="t" /db_xref="dbSNP:1006896" variation 1707 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="c" /replace="t" /db_xref="dbSNP:1063597" variation 2881..2882 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="a" /replace="g" /db_xref="dbSNP:28362507" variation 2882 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="c" /replace="t" /db_xref="dbSNP:1051383" STS 3101..3286 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /standard_name="D3S2962E" /db_xref="UniSTS:150946" variation 3346 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="g" /replace="t" /db_xref="dbSNP:11128020" variation 3945 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="a" /replace="c" /db_xref="dbSNP:1051413" variation 4088 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="c" /replace="t" /db_xref="dbSNP:1063603" variation 4109 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" /replace="a" /replace="g" /db_xref="dbSNP:1051436" polyA_site 4539 /gene="CGGBP1" /gene_synonym="CGGBP; p20-CGGBP" ORIGIN
gcaggcggacggggcgcggcgggggacacggcggccgccgcggggctcgatcgggcaacggcggcgacggcggcagcgacggatcctcctcctcccttattcccttgctcctctttcttccttttcttttcctttccggccgggcctcgtccactttccctaacggcggcctcgatcctacgtaaaggcatgacttcctggcaccacagggaaaatcgggtgcaagcccagaaactatttccccaccaccacttgttgaaaaactgatttgaaggcatctccggggttgaacaaacggaaagtgccaggatttgatgcgtctctggtttcgctctggagaccattccctgctaagtatcaagacgaaaaaaactggaaactaatccgaatttctgtggaatgtttaatcttctggatccatgactgtctgatacgttggcaatttaaagtccttttgaaagagagttcatgttacccagctattctctaaaccatatttatttagagtcagaatggagcgatttgtagtaacagcaccacctgctcgaaaccgttctaagactgctttgtatgtgactcccctggatcgagtcactgagtttggaggtgagctgcatgaagatggaggaaaactcttctgcacttcttgcaatgtggttctgaatcatgttcgcaagtctgccattagtgaccacctcaagtcaaagactcataccaagaggaaggcagaatttgaagagcagaatgtgagaaagaagcagaggcccctaactgcatctcttcagtgcaacagtactgcgcaaacagagaaagtcagtgttatccaggactttgtgaaaatgtgcctggaagccaacatcccacttgagaaggctgatcacccagcagtccgtgctttcctatctcgccatgtgaagaatggaggctccatacctaagtcagaccagctacggagggcatatcttcctgatggatatgagaatgagaatcaactcctcaactcacaagattgttgactaggaggttaccaccattgtgatcaagataaatgtggagtattaaagttatgtgttgattgtgtggttcatttttgtatttatttcatttaaaatcatgtgacgcagaatagttttgcaatgtgtatatagttgcaggcaaaaaaaaaaccacctcactgcaaaacttattgttaattttagtcaccaatggtataaagcaaaacctaggtttagagtgtgctaggatacctgaaacctgatggttatctttaaaattaatggtttttctcctgaaatgtttgtgcatggaagaactgccctgcttttttaccctgttgccatgtatgattattccttgtgagattacttaattacttggattgaagactagcctattgaagctgctgccaggcaacaccacttaacagtaacttaaaggaattattttctttagaggatcctcttcaaaaaggaagggagatagtggaaaactgttcttatatcttcagatccctagcagaaatgactgtttatttcaaactatgttttacttgtatatgatgtagtcaccttaactatctttcaattccatacttcccccgcccccattttaaaggcttattgttgtattttgtagcagcttcaagtgaccaaaagactaaaatctttcaacgtcaatgccaaaagccaaggggaattttgcagtgacaggattttagtctcttactatgaatactaatttcgaaccatagctttcattttaagcatcatcttgaatttctaaacttttttctatgtcttggtgttaaaagatttcaagattggcatttttacttaaacagacattttatggttgagttttctctttattatagagaattagtaatttttttttggctgacagatcagataaaattactttctattcattaatttttctctacaactttatgagtttatttaggtgaatagtctagactagaaacaagtttactttatctgctttgcctctggtggtacaaggtttttaacatggatggtaaacaattgtctagaaattctggcaggttttttgtattggagatctggcagtatcctgcataactttgggtgaggaaattgttctcttaaagatcagccatgttcaggaaatgatctctgtttgaacctcactatcctgtaaggttatccaagtagcttagcccagctaagttctatcagagacccaaattatattttttaaaaatttaacagctggaaacttggactagagctttaataaaaaatcttaaattctttgaaattcaagttaaaaatacttatatatttctattacaaagcagtgacaaatgatgccctgtgtgacttggagttatctttgacttttaccacaaatcttcatttataaaagaaaaagccaaagtgaaaaaaagttagattgtgtatttttcagtaacagctttccatgtcttaagatttttttacagacttaagtttctaattcaggttgtcaaactggccatttgacttcagagatttgttttcattaaaaaataagcctgccgccaaaataaatcacttatcaaaatgtgaactgttttcctcatgttcagttatgttaaagtagtatgataaatgcatgcctagagtagtgctctcgttgatgaagcacatgtatgaggagaccagcagcaaaacataaccatatgtgttttgcgtttacttcctctagaaaagaatttgcaggcaaccatgtttaatttgaactatctaagatggtagattttagaagctaggaataattgagttttatagcactattttcagaatacgaaaagatacacaatcattctgttttttgaaattccatgtgattcaaactgctccctattatttgggtattaatttgcactaatagcaaaatgtaatggcagatcagctttgagagtggtcctaagcagtaaactggatgatgttgcattagaaaaacatcaataattcatatttaagttttagtagttactactgatttgataatcacttaaattttatatatcttaatgtattttttcagactcctaattaattcccacattcactgtaactaggggcatagtccattctgttaggattatatcctctccttagaaatgttttccatcctgttgtggggatttggtattaatgtttcttcattgattatggaacttttgttccctgaagctagttaactgtgtctaaagttaaataaatacagcagaatgattgttttagcctgctcgaactgatacaaatccctgaaaccatgattggcatatgttagataacaaatgaggatgtctaagaggcatatgctgctttggaggtgtagtgaacgtgtgtacagaagttttcaatcttaactatatagtgttagtgtgatgctatactattggaaaaatagcagcttttttctattttataagttgtatgcataaacataagatttgtaatgtttcatttataaactgccttcttcaacacatgttaatagtgttttctcaaagtattgatagtatgtcttccagaatttcacaatatgcttacagtaaatatttcctagcttgttgaaatgttcaattctttgttggctttcttcttgattctgtgggggtgtataacaagcctgaaggacattgtaatcatttcttacaaggtgaaaattaagaaagattgtgtatgagagcctatatagttgttttatccattatcatctttgattaagactttaaaaaaatgctatttccagttaatgcatttggccctattgaattttcagggaccagaaaacattaaaaagttctgcatcttataatggtaaccaattaagcttgagattgttctgaaagtatcaattgctttaaaactgttgtaagtacagttggcaagatctccaagctgaaacttccacgttaaaacttttgcctgtaagaatttgcacatgaatgttaatggaaaacacaaaacttaagatggcccaaaacaaaagccacaaacagttcatcatttggtgcttagtctttgtaagggctctctgtggtttgacttaccccagctaccgttaaatgaggacaaatcaccttaaaacatgttcatttgattcataacaaggaaaattgggtctatgattttttgccaatcttagcctaaaagaaattgctttagcttctggtcagcactgattaaaatgtgaatagtgaagtggctatcctaaactggtttatctccacccacactatcatagatttcttaggtaaatacaattcttatctagtggtattctacttgtattcagaatactgtattaaaattttactatttcatttttgtattctgtgcttattttttttgctcacgcatgtatgcttagtataaatgtgtcacttctaaagttttgtctctgacttttagaaataaatttcagaaaaattgtttcaaaagattttgaaagcacattttgttttgtgagtcaatgacaaatatatttcctgattacaaaacaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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