CGBP1_HUMAN
ID CGBP1_HUMAN Reviewed; 167 AA.
AC Q9UFW8; D3DU38; O15183;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=CGG triplet repeat-binding protein 1;
DE Short=CGG-binding protein 1;
DE AltName: Full=20 kDa CGG-binding protein;
DE AltName: Full=p20-CGGBP DNA-binding protein;
GN Name=CGGBP1; Synonyms=CGGBP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 4-12; 17-26 AND 101-109,
RP FUNCTION, SUBCELLULAR LOCATION, AND IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Melanocyte;
RX PubMed=9201980; DOI=10.1074/jbc.272.27.16761;
RA Deissler H., Wilm M., Genc B., Schmitz B., Ternes T., Naumann F., Mann M.,
RA Doerfler W.;
RT "Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of
RT p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-
RT d(CGG)n-3' in the human FMR1 gene.";
RL J. Biol. Chem. 272:16761-16768(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=14667814; DOI=10.1016/s0888-7543(03)00212-x;
RA Naumann F., Remus R., Schmitz B., Doerfler W.;
RT "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein
RT (CGGBP1).";
RL Genomics 83:106-118(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-164, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-56 AND SER-164, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats
CC in the FMR1 promoter. May play a role in regulating FMR1 promoter.
CC {ECO:0000269|PubMed:9201980}.
CC -!- INTERACTION:
CC Q9UFW8; A0A087WZT3: BOLA2B; NbExp=3; IntAct=EBI-723153, EBI-12006120;
CC Q9UFW8; Q16543: CDC37; NbExp=3; IntAct=EBI-723153, EBI-295634;
CC Q9UFW8; P55273: CDKN2D; NbExp=3; IntAct=EBI-723153, EBI-745859;
CC Q9UFW8; Q9UFW8: CGGBP1; NbExp=4; IntAct=EBI-723153, EBI-723153;
CC Q9UFW8; Q86V42: FAM124A; NbExp=3; IntAct=EBI-723153, EBI-744506;
CC Q9UFW8; O76003: GLRX3; NbExp=3; IntAct=EBI-723153, EBI-374781;
CC Q9UFW8; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-723153, EBI-739467;
CC Q9UFW8; Q6IN84: MRM1; NbExp=4; IntAct=EBI-723153, EBI-5454865;
CC Q9UFW8; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-723153, EBI-741158;
CC Q9UFW8; P26367: PAX6; NbExp=3; IntAct=EBI-723153, EBI-747278;
CC Q9UFW8; O75928-2: PIAS2; NbExp=3; IntAct=EBI-723153, EBI-348567;
CC Q9UFW8; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-723153, EBI-79165;
CC Q9UFW8; O15160: POLR1C; NbExp=3; IntAct=EBI-723153, EBI-1055079;
CC Q9UFW8; Q04864: REL; NbExp=4; IntAct=EBI-723153, EBI-307352;
CC Q9UFW8; Q04864-2: REL; NbExp=3; IntAct=EBI-723153, EBI-10829018;
CC Q9UFW8; O00560: SDCBP; NbExp=3; IntAct=EBI-723153, EBI-727004;
CC Q9UFW8; Q99757: TXN2; NbExp=3; IntAct=EBI-723153, EBI-2932492;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9201980}.
CC -!- TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, thymus,
CC lymph nodes, cerebellum and cerebral cortex. Low expression in other
CC regions of the brain. {ECO:0000269|PubMed:14667814}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal brain and kidney. Lower
CC expression in fetal liver and lung. {ECO:0000269|PubMed:14667814}.
CC -!- MISCELLANEOUS: Binding is severely inhibited by complete or partial
CC cytosine-specific DNA methylation of the binding motif.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB55894.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AJ000258; CAA03974.1; -; mRNA.
DR EMBL; AF094481; AAD04161.1; -; Genomic_DNA.
DR EMBL; CR456854; CAG33135.1; -; mRNA.
DR EMBL; AL117392; CAB55894.1; ALT_FRAME; mRNA.
DR EMBL; AM393707; CAL38583.1; -; mRNA.
DR EMBL; CH471110; EAW68863.1; -; Genomic_DNA.
DR EMBL; CH471110; EAW68864.1; -; Genomic_DNA.
DR EMBL; BC052980; AAH52980.1; -; mRNA.
DR CCDS; CCDS43111.1; -.
DR PIR; T17204; T17204.
DR RefSeq; NP_001008391.1; NM_001008390.1.
DR RefSeq; NP_001182237.1; NM_001195308.1.
DR RefSeq; NP_003654.3; NM_003663.3.
DR RefSeq; XP_016862844.1; XM_017007355.1.
DR AlphaFoldDB; Q9UFW8; -.
DR SMR; Q9UFW8; -.
DR BioGRID; 114115; 48.
DR IntAct; Q9UFW8; 30.
DR MINT; Q9UFW8; -.
DR STRING; 9606.ENSP00000381429; -.
DR GlyGen; Q9UFW8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9UFW8; -.
DR PhosphoSitePlus; Q9UFW8; -.
DR BioMuta; CGGBP1; -.
DR DMDM; 116243045; -.
DR EPD; Q9UFW8; -.
DR jPOST; Q9UFW8; -.
DR MassIVE; Q9UFW8; -.
DR MaxQB; Q9UFW8; -.
DR PaxDb; Q9UFW8; -.
DR PeptideAtlas; Q9UFW8; -.
DR PRIDE; Q9UFW8; -.
DR ProteomicsDB; 84195; -.
DR Antibodypedia; 32047; 232 antibodies from 29 providers.
DR DNASU; 8545; -.
DR Ensembl; ENST00000309534.10; ENSP00000381428.2; ENSG00000163320.12.
DR Ensembl; ENST00000398392.2; ENSP00000381429.2; ENSG00000163320.12.
DR Ensembl; ENST00000462901.5; ENSP00000418769.1; ENSG00000163320.12.
DR Ensembl; ENST00000482016.6; ENSP00000420374.1; ENSG00000163320.12.
DR Ensembl; ENST00000675130.1; ENSP00000502581.1; ENSG00000163320.12.
DR GeneID; 8545; -.
DR KEGG; hsa:8545; -.
DR MANE-Select; ENST00000482016.6; ENSP00000420374.1; NM_001008390.2; NP_001008391.1.
DR UCSC; uc003dqs.4; human.
DR CTD; 8545; -.
DR DisGeNET; 8545; -.
DR GeneCards; CGGBP1; -.
DR HGNC; HGNC:1888; CGGBP1.
DR HPA; ENSG00000163320; Low tissue specificity.
DR MIM; 603363; gene.
DR neXtProt; NX_Q9UFW8; -.
DR OpenTargets; ENSG00000163320; -.
DR PharmGKB; PA26441; -.
DR VEuPathDB; HostDB:ENSG00000163320; -.
DR eggNOG; ENOG502RXX8; Eukaryota.
DR GeneTree; ENSGT00390000017898; -.
DR HOGENOM; CLU_132996_0_0_1; -.
DR InParanoid; Q9UFW8; -.
DR OMA; TYLPDGY; -.
DR OrthoDB; 1312529at2759; -.
DR PhylomeDB; Q9UFW8; -.
DR TreeFam; TF335518; -.
DR PathwayCommons; Q9UFW8; -.
DR SignaLink; Q9UFW8; -.
DR BioGRID-ORCS; 8545; 19 hits in 1089 CRISPR screens.
DR ChiTaRS; CGGBP1; human.
DR GeneWiki; CGGBP1; -.
DR GenomeRNAi; 8545; -.
DR Pharos; Q9UFW8; Tbio.
DR PRO; PR:Q9UFW8; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9UFW8; protein.
DR Bgee; ENSG00000163320; Expressed in germinal epithelium of ovary and 205 other tissues.
DR ExpressionAtlas; Q9UFW8; baseline and differential.
DR Genevisible; Q9UFW8; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:LIFEdb.
DR GO; GO:0140297; F:DNA-binding transcription factor binding; IPI:ARUK-UCL.
DR GO; GO:0003690; F:double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0040029; P:regulation of gene expression, epigenetic; IDA:ARUK-UCL.
DR InterPro; IPR033375; Cggbp1.
DR PANTHER; PTHR32344; PTHR32344; 1.
PE 1: Evidence at protein level;
KW Direct protein sequencing; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..167
FT /note="CGG triplet repeat-binding protein 1"
FT /id="PRO_0000252415"
FT MOTIF 80..84
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT MOD_RES 56
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 164
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17525332,
FT ECO:0007744|PubMed:20068231"
FT CONFLICT 165
FT /note="Q -> R (in Ref. 2; CAB55894)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 167 AA; 18820 MW; 1AF69CDB885BB8AD CRC64;
MERFVVTAPP ARNRSKTALY VTPLDRVTEF GGELHEDGGK LFCTSCNVVL NHVRKSAISD
HLKSKTHTKR KAEFEEQNVR KKQRPLTASL QCNSTAQTEK VSVIQDFVKM CLEANIPLEK
ADHPAVRAFL SRHVKNGGSI PKSDQLRRAY LPDGYENENQ LLNSQDC
