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Aliases for CGGBP1 Gene

Aliases for CGGBP1 Gene

  • CGG Triplet Repeat Binding Protein 1 2 3 5
  • P20-CGGBP DNA-Binding Protein 3 4
  • 20 KDa CGG-Binding Protein 3 4
  • P20-CGG Binding Protein 2 3
  • CGG-Binding Protein 1 3 4
  • CGGBP 3 4
  • CGG Triplet Repeat-Binding Protein 1 3
  • P20-CGGBP 3

External Ids for CGGBP1 Gene

Previous GeneCards Identifiers for CGGBP1 Gene

  • GC03M088628
  • GC03M090882
  • GC03M087981
  • GC03M088022
  • GC03M087987
  • GC03M088183
  • GC03M088101

Summaries for CGGBP1 Gene

Entrez Gene Summary for CGGBP1 Gene

  • 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]

GeneCards Summary for CGGBP1 Gene

CGGBP1 (CGG Triplet Repeat Binding Protein 1) is a Protein Coding gene. Diseases associated with CGGBP1 include Fragile X Syndrome. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding.

UniProtKB/Swiss-Prot for CGGBP1 Gene

  • Binds to nonmethylated 5-d(CGG)(n)-3 trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.

Gene Wiki entry for CGGBP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CGGBP1 Gene

Genomics for CGGBP1 Gene

Regulatory Elements for CGGBP1 Gene

Enhancers for CGGBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F088057 1.1 ENCODE 41.5 +90.8 90799 4.0 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 CGGBP1 ZNF654 LOC105377200 GC03P088045
GH03F087791 0.9 ENCODE 34.7 +356.5 356523 2.9 GLIS2 ZNF202 ZNF680 HCFC1 REST ZNF518A ZNF781 ZNF264 SMARCA4 AEBP2 CGGBP1 ZNF654 HTR1F LOC105377198
GH03F088033 1 Ensembl ENCODE 19.4 +115.6 115598 1.3 ZNF263 PKNOX1 STAT1 DDX20 TAL1 DPF2 ARID1B JUND POLR2A NCOR1 CGGBP1 HTR1F GC03P088032 GC03P088045
GH03F088030 1.3 FANTOM5 Ensembl ENCODE 8.6 +118.1 118085 3.6 TBP IRF2 ASH2L ZBTB40 YY1 ZNF316 FOXK2 POLR2A STAT2 MAFK CGGBP1 ZNF654 HTR1F C3orf38 GC03P088032 RNU6ATAC6P
GH03F088140 1 Ensembl ENCODE 11.1 +7.7 7714 2.8 PKNOX1 BMI1 ZBTB40 FOSL1 RFX1 MTA2 HLF BHLHE40 TRIM22 ELF1 CGGBP1 ZNF654 C3orf38 GC03P088128
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CGGBP1 on UCSC Golden Path with GeneCards custom track

Promoters for CGGBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001368506 -615 3401 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for CGGBP1 Gene

Chromosome:
3
Start:
88,051,944 bp from pter
End:
88,149,885 bp from pter
Size:
97,942 bases
Orientation:
Minus strand

Genomic View for CGGBP1 Gene

Genes around CGGBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CGGBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CGGBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CGGBP1 Gene

Proteins for CGGBP1 Gene

  • Protein details for CGGBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UFW8-CGBP1_HUMAN
    Recommended name:
    CGG triplet repeat-binding protein 1
    Protein Accession:
    Q9UFW8
    Secondary Accessions:
    • D3DU38
    • O15183

    Protein attributes for CGGBP1 Gene

    Size:
    167 amino acids
    Molecular mass:
    18820 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the binding motif.
    SequenceCaution:
    • Sequence=CAB55894.1; Type=Frameshift; Positions=149; Evidence={ECO:0000305};

neXtProt entry for CGGBP1 Gene

Post-translational modifications for CGGBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CGGBP1 Gene

No data available for DME Specific Peptides for CGGBP1 Gene

Domains & Families for CGGBP1 Gene

Protein Domains for CGGBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CGGBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CGGBP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CGGBP1 Gene

Function for CGGBP1 Gene

Molecular function for CGGBP1 Gene

GENATLAS Biochemistry:
nuclear protein,20kDa,specifically binding CGG triplet repeat (ds DNA,5-d (CGG) 17-3 in FMR1 gene)
UniProtKB/Swiss-Prot Function:
Binds to nonmethylated 5-d(CGG)(n)-3 trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.

Gene Ontology (GO) - Molecular Function for CGGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 10692448
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA,IMP 10692448
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA,TAS 8626781
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CGGBP1: view
genes like me logo Genes that share phenotypes with CGGBP1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CGGBP1 Gene

Localization for CGGBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CGGBP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CGGBP1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CGGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CGGBP1: view

Pathways & Interactions for CGGBP1 Gene

SuperPathways for CGGBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CGGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10692448
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with CGGBP1: view

No data available for Pathways by source and SIGNOR curated interactions for CGGBP1 Gene

Transcripts for CGGBP1 Gene

Unigene Clusters for CGGBP1 Gene

CGG triplet repeat binding protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CGGBP1 Gene

No ASD Table

Relevant External Links for CGGBP1 Gene

GeneLoc Exon Structure for
CGGBP1
ECgene alternative splicing isoforms for
CGGBP1

Expression for CGGBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CGGBP1 Gene

Protein differential expression in normal tissues from HIPED for CGGBP1 Gene

This gene is overexpressed in Tlymphocyte (21.4) and Peripheral blood mononuclear cells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CGGBP1 Gene



Protein tissue co-expression partners for CGGBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CGGBP1 Gene:

CGGBP1

SOURCE GeneReport for Unigene cluster for CGGBP1 Gene:

Hs.444818

mRNA Expression by UniProt/SwissProt for CGGBP1 Gene:

Q9UFW8-CGBP1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.
genes like me logo Genes that share expression patterns with CGGBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CGGBP1 Gene

Orthologs for CGGBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CGGBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CGGBP1 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 99 (a)
OneToMany
CGGBP1 34 35
  • 96.21 (n)
oppossum
(Monodelphis domestica)
Mammalia CGGBP1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CGGBP1 34 35
  • 96.81 (n)
rat
(Rattus norvegicus)
Mammalia Cggbp1 34
  • 91.82 (n)
mouse
(Mus musculus)
Mammalia Cggbp1 34 16 35
  • 91.62 (n)
chicken
(Gallus gallus)
Aves CGGBP1 34
  • 81.12 (n)
lizard
(Anolis carolinensis)
Reptilia CGGBP1 35
  • 65 (a)
OneToOne
Species where no ortholog for CGGBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CGGBP1 Gene

ENSEMBL:
Gene Tree for CGGBP1 (if available)
TreeFam:
Gene Tree for CGGBP1 (if available)

Paralogs for CGGBP1 Gene

No data available for Paralogs for CGGBP1 Gene

Variants for CGGBP1 Gene

Sequence variations from dbSNP and Humsavar for CGGBP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1006895 -- 88,056,668(-) AAGTA(A/G)GACTT intron-variant
rs1006896 -- 88,055,261(-) CTAGG(G/T)TTAGA utr-variant-3-prime
rs1051383 -- 88,053,607(-) AACTG(C/T)TCCCT utr-variant-3-prime
rs1051413 -- 88,052,544(-) AACTT(A/C)CACGT utr-variant-3-prime
rs1051436 -- 88,052,380(-) TGAGG(A/G)CAAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CGGBP1 Gene

Variant ID Type Subtype PubMed ID
esv3596912 CNV loss 21293372
esv3596913 CNV gain 21293372
esv3596914 CNV gain 21293372

Variation tolerance for CGGBP1 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CGGBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CGGBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CGGBP1 Gene

Disorders for CGGBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CGGBP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CGGBP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CGGBP1
genes like me logo Genes that share disorders with CGGBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CGGBP1 Gene

Publications for CGGBP1 Gene

  1. Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). (PMID: 14667814) Naumann F. … Doerfler W. (Genomics 2004) 2 3 4 64
  2. 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. (PMID: 9201980) Deissler H. … Doerfler W. (J. Biol. Chem. 1997) 2 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter. (PMID: 10692448) MA1ller-Hartmann H. … Doerfler W. (J. Biol. Chem. 2000) 3 22 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for CGGBP1 Gene

Sources for CGGBP1 Gene

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