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2024-04-26 02:52:43, 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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