LOCUS       NM_001008390            4548 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001008390
VERSION     NM_001008390.2
KEYWORDS    RefSeq; MANE Select.
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 4548)
  AUTHORS   Patel,D., Patel,M., Datta,S. and Singh,U.
  TITLE     CGGBP1-dependent CTCF-binding sites restrict ectopic transcription
  JOURNAL   Cell Cycle 20 (22), 2387-2401 (2021)
   PUBMED   34585631
  REMARK    GeneRIF: CGGBP1-dependent CTCF-binding sites restrict ectopic
            transcription.
REFERENCE   2  (bases 1 to 4548)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4548)
  AUTHORS   Patel,M., Patel,D., Datta,S. and Singh,U.
  TITLE     CGGBP1-regulated cytosine methylation at CTCF-binding motifs
            resists stochasticity
  JOURNAL   BMC Genet 21 (1), 84 (2020)
   PUBMED   32727353
  REMARK    GeneRIF: CGGBP1-regulated cytosine methylation at CTCF-binding
            motifs resists stochasticity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4548)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4548)
  AUTHORS   Patel,D., Patel,M., Datta,S. and Singh,U.
  TITLE     CGGBP1 regulates CTCF occupancy at repeats
  JOURNAL   Epigenetics Chromatin 12 (1), 57 (2019)
   PUBMED   31547883
  REMARK    GeneRIF: CGGBP1 is a regulator of CTCF-DNA-binding pattern with a
            direct effect on a potential chromatin barrier like functioning of
            repeatrich and motif-rich regions.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4548)
  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 4548)
  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 4548)
  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 4548)
  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 4548)
  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
            AC119733.2, BU537042.1, BE501563.1, AJ000258.1, AL117392.1 and
            BC052980.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001008390.1.
            
            Summary: This gene encodes a CGG repeat-binding protein that
            primarily localizes to the nucleus. CGG trinucleotide repeats are
            implicated in many disorders as they often act as transcription-
            and translation-regulatory elements, can produce hairpin structures
            which cause DNA replication errors, and form regions prone to
            chromosomal breakage. CGG repeats are also targets for CpG
            methylation. In addition to its ability to bind CGG repeats and
            regulate transcription, this gene is believed to play a role in DNA
            damage repair and telomere protection. In vitro studies indicate
            this protein does not bind to methylated CpG sequences. [provided
            by RefSeq, Jul 2017].
            
            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 :: SRR18074968.756214.1,
                                           SRR14038197.1444398.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000482016.6/ ENSP00000420374.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AC119733.2         72207-72215         c
            10-87               BU537042.1         4-81
            88-617              BE501563.1         1-530
            618-1084            AJ000258.1         293-759
            1085-1486           AL117392.1         919-1320
            1487-1576           BC052980.1         1278-1367
            1577-1715           AL117392.1         1409-1547
            1716-4548           BC052980.1         1502-4334
FEATURES             Location/Qualifiers
     source          1..4548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.1"
     gene            1..4548
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="CGG triplet repeat binding protein 1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:HGNC:1888"
                     /db_xref="MIM:603363"
     exon            1..191
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:2.1.0"
     exon            192..396
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:2.1.0"
     exon            397..498
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:2.1.0"
     exon            499..4548
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             522..1025
                     /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="CCDS:CCDS43111.1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:HGNC:1888"
                     /db_xref="MIM:603363"
                     /translation="MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCT
                     SCNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVS
                     VIQDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQ
                     LLNSQDC"
     regulatory      4350..4355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: ATTAAA"
     polyA_site      4369
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="major polyA site"
     regulatory      4459..4464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: AATAAA"
     polyA_site      4486
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="major polyA site"
     regulatory      4525..4530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: AATATA"
     polyA_site      4548
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
ORIGIN      
        1 ataggcggtg caggcggacg gggcgcggcg ggggacacgg cggccgccgc ggggctcgat
       61 cgggcaacgg cggcgacggc ggcagcgacg gatcctcctc ctcccttatt cccttgctcc
      121 tctttcttcc ttttcttttc ctttccggcc gggcctcgtc cactttccct aacggcggcc
      181 tcgatcctac gtaaaggcat gacttcctgg caccacaggg aaaatcgggt gcaagcccag
      241 aaactatttc cccaccacca cttgttgaaa aactgatttg aaggcatctc cggggttgaa
      301 caaacggaaa gtgccaggat ttgatgcgtc tctggtttcg ctctggagac cattccctgc
      361 taagtatcaa gacgaaaaaa actggaaact aatccgaatt tctgtggaat gtttaatctt
      421 ctggatccat gactgtctga tacgttggca atttaaagtc cttttgaaag agagttcatg
      481 ttacccagct attctctaaa ccatatttat ttagagtcag aatggagcga tttgtagtaa
      541 cagcaccacc tgctcgaaac cgttctaaga ctgctttgta tgtgactccc ctggatcgag
      601 tcactgagtt tggaggtgag ctgcatgaag atggaggaaa actcttctgc acttcttgca
      661 atgtggttct gaatcatgtt cgcaagtctg ccattagtga ccacctcaag tcaaagactc
      721 ataccaagag gaaggcagaa tttgaagagc agaatgtgag aaagaagcag aggcccctaa
      781 ctgcatctct tcagtgcaac agtactgcgc aaacagagaa agtcagtgtt atccaggact
      841 ttgtgaaaat gtgcctggaa gccaacatcc cacttgagaa ggctgatcac ccagcagtcc
      901 gtgctttcct atctcgccat gtgaagaatg gaggctccat acctaagtca gaccagctac
      961 ggagggcata tcttcctgat ggatatgaga atgagaatca actcctcaac tcacaagatt
     1021 gttgactagg aggttaccac cattgtgatc aagataaatg tggagtatta aagttatgtg
     1081 ttgattgtgt ggttcatttt tgtatttatt tcatttaaaa tcatgtgacg cagaatagtt
     1141 ttgcaatgtg tatatagttg caggcaaaaa aaaaaccacc tcactgcaaa acttattgtt
     1201 aattttagtc accaatggta taaagcaaaa cctaggttta gagtgtgcta ggatacctga
     1261 aacctgatgg ttatctttaa aattaatggt ttttctcctg aaatgtttgt gcatggaaga
     1321 actgccctgc ttttttaccc tgttgccatg tatgattatt ccttgtgaga ttacttaatt
     1381 acttggattg aagactagcc tattgaagct gctgccaggc aacaccactt aacagtaact
     1441 taaaggaatt attttcttta gaggatcctc ttcaaaaagg aagggagata gtggaaaact
     1501 gttcttatat cttcagatcc ctagcagaaa tgactgttta tttcaaacta tgttttactt
     1561 gtatatgatg tagtcacctt aactatcttt caattccata cttcccccgc ccccatttta
     1621 aaggcttatt gttgtatttt gtagcagctt caagtgacca aaagactaaa atctttcaac
     1681 gtcaatgcca aaagccaagg ggaattttgc agtgacagga ttttagtctc ttactatgaa
     1741 tactaatttc gaaccatagc tttcatttta agcatcatct tgaatttcta aacttttttc
     1801 tatgtcttgg tgttaaaaga tttcaagatt ggcattttta cttaaacaga cattttatgg
     1861 ttgagttttc tctttattat agagaattag taattttttt ttggctgaca gatcagataa
     1921 aattactttc tattcattaa tttttctcta caactttatg agtttattta ggtgaatagt
     1981 ctagactaga aacaagttta ctttatctgc tttgcctctg gtggtacaag gtttttaaca
     2041 tggatggtaa acaattgtct agaaattctg gcaggttttt tgtattggag atctggcagt
     2101 atcctgcata actttgggtg aggaaattgt tctcttaaag atcagccatg ttcaggaaat
     2161 gatctctgtt tgaacctcac tatcctgtaa ggttatccaa gtagcttagc ccagctaagt
     2221 tctatcagag acccaaatta tattttttaa aaatttaaca gctggaaact tggactagag
     2281 ctttaataaa aaatcttaaa ttctttgaaa ttcaagttaa aaatacttat atatttctat
     2341 tacaaagcag tgacaaatga tgccctgtgt gacttggagt tatctttgac ttttaccaca
     2401 aatcttcatt tataaaagaa aaagccaaag tgaaaaaaag ttagattgtg tatttttcag
     2461 taacagcttt ccatgtctta agattttttt acagacttaa gtttctaatt caggttgtca
     2521 aactggccat ttgacttcag agatttgttt tcattaaaaa ataagcctgc cgccaaaata
     2581 aatcacttat caaaatgtga actgttttcc tcatgttcag ttatgttaaa gtagtatgat
     2641 aaatgcatgc ctagagtagt gctctcgttg atgaagcaca tgtatgagga gaccagcagc
     2701 aaaacataac catatgtgtt ttgcgtttac ttcctctaga aaagaatttg caggcaacca
     2761 tgtttaattt gaactatcta agatggtaga ttttagaagc taggaataat tgagttttat
     2821 agcactattt tcagaatacg aaaagataca caatcattct gttttttgaa attccatgtg
     2881 attcaaactg ctccctatta tttgggtatt aatttgcact aatagcaaaa tgtaatggca
     2941 gatcagcttt gagagtggtc ctaagcagta aactggatga tgttgcatta gaaaaacatc
     3001 aataattcat atttaagttt tagtagttac tactgatttg ataatcactt aaattttata
     3061 tatcttaatg tattttttca gactcctaat taattcccac attcactgta actaggggca
     3121 tagtccattc tgttaggatt atatcctctc cttagaaatg ttttccatcc tgttgtgggg
     3181 atttggtatt aatgtttctt cattgattat ggaacttttg ttccctgaag ctagttaact
     3241 gtgtctaaag ttaaataaat acagcagaat gattgtttta gcctgctcga actgatacaa
     3301 atccctgaaa ccatgattgg catatgttag ataacaaatg aggatgtcta agaggcatat
     3361 gctgctttgg aggtgtagtg aacgtgtgta cagaagtttt caatcttaac tatatagtgt
     3421 tagtgtgatg ctatactatt ggaaaaatag cagctttttt ctattttata agttgtatgc
     3481 ataaacataa gatttgtaat gtttcattta taaactgcct tcttcaacac atgttaatag
     3541 tgttttctca aagtattgat agtatgtctt ccagaatttc acaatatgct tacagtaaat
     3601 atttcctagc ttgttgaaat gttcaattct ttgttggctt tcttcttgat tctgtggggg
     3661 tgtataacaa gcctgaagga cattgtaatc atttcttaca aggtgaaaat taagaaagat
     3721 tgtgtatgag agcctatata gttgttttat ccattatcat ctttgattaa gactttaaaa
     3781 aaatgctatt tccagttaat gcatttggcc ctattgaatt ttcagggacc agaaaacatt
     3841 aaaaagttct gcatcttata atggtaacca attaagcttg agattgttct gaaagtatca
     3901 attgctttaa aactgttgta agtacagttg gcaagatctc caagctgaaa cttccacgtt
     3961 aaaacttttg cctgtaagaa tttgcacatg aatgttaatg gaaaacacaa aacttaagat
     4021 ggcccaaaac aaaagccaca aacagttcat catttggtgc ttagtctttg taagggctct
     4081 ctgtggtttg acttacccca gctaccgtta aatgaggaca aatcacctta aaacatgttc
     4141 atttgattca taacaaggaa aattgggtct atgatttttt gccaatctta gcctaaaaga
     4201 aattgcttta gcttctggtc agcactgatt aaaatgtgaa tagtgaagtg gctatcctaa
     4261 actggtttat ctccacccac actatcatag atttcttagg taaatacaat tcttatctag
     4321 tggtattcta cttgtattca gaatactgta ttaaaatttt actatttcat ttttgtattc
     4381 tgtgcttatt ttttttgctc acgcatgtat gcttagtata aatgtgtcac ttctaaagtt
     4441 ttgtctctga cttttagaaa taaatttcag aaaaattgtt tcaaaagatt ttgaaagcac
     4501 attttgtttt gtgagtcaat gacaaatata tttcctgatt acaaaaca
//
