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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

  • 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]

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. Gene Ontology (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 DNA 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

Additional gene information for CGGBP1 Gene

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

Genomics for CGGBP1 Gene

GeneHancer (GH) Regulatory Elements for CGGBP1 Gene

Promoters and enhancers for CGGBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I088057 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 591.5 +90.8 90798 4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF213 CGGBP1 ZNF654 C3orf38 GC03P088045
GH03I088148 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 566.3 -0.3 -269 3.6 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 CGGBP1 C3orf38 ZNF654 GC03P088161 GC03P088045
GH03I087791 Enhancer 1.3 Ensembl ENCODE dbSUPER 56.5 +356.5 356522 2.9 GLIS2 ZNF213 ZNF202 ZC3H11A REST ZNF518A GMEB1 SMARCA4 GLIS1 AEBP2 HTR1F LOC105377198 CGGBP1 ZNF654 VGLL3
GH03I088033 Enhancer 0.9 ENCODE dbSUPER 19.4 +115.6 115597 1.3 MEIS2 PKNOX1 TEAD4 TAL1 TCF12 POLR2A NCOR1 STAT2 ADNP CBFA2T2 GC03P088032 CGGBP1 HTR1F GC03P088045
GH03I088140 Enhancer 0.9 Ensembl ENCODE 11.1 +7.7 7713 2.8 PKNOX1 NR2F1 TRIM22 BMI1 DPF2 BATF JUND PRDM6 TARDBP IKZF1 CGGBP1 ZNF654 C3orf38 GC03P088128 GC03P088045
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CGGBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CGGBP1 gene promoter:

Genomic Locations for CGGBP1 Gene

Genomic Locations for CGGBP1 Gene
chr3:88,051,944-88,149,885
(GRCh38/hg38)
Size:
97,942 bases
Orientation:
Minus strand
chr3:88,101,094-88,199,035
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for CGGBP1 Gene

No data available for DME Specific Peptides for CGGBP1 Gene

Domains & Families for CGGBP1 Gene

Gene Families for CGGBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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 DNA 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CGGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA --
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 by RNA polymerase II IDA 10692448
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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

Drugs & Compounds for CGGBP1 Gene

No Compound Related Data Available

Transcripts for CGGBP1 Gene

Unigene Clusters for CGGBP1 Gene

CGG triplet repeat binding protein 1:
Representative Sequences:

Clone 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 CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for CGGBP1 Gene

  • Kidney(4.6)
  • Skin(4.3)
  • Nervous system(4.2)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 99 (a)
OneToMany
CGGBP1 33 34
  • 96.21 (n)
oppossum
(Monodelphis domestica)
Mammalia CGGBP1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CGGBP1 33 34
  • 96.81 (n)
rat
(Rattus norvegicus)
Mammalia Cggbp1 33
  • 91.82 (n)
mouse
(Mus musculus)
Mammalia Cggbp1 33 16 34
  • 91.62 (n)
chicken
(Gallus gallus)
Aves CGGBP1 33
  • 81.12 (n)
lizard
(Anolis carolinensis)
Reptilia CGGBP1 34
  • 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 Variation AA Info Type
rs1000021226 -- 88,072,811(-) A/C/G genic_upstream_transcript_variant, intron_variant
rs1000088188 -- 88,071,515(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000198310 -- 88,143,149(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000255636 -- 88,143,402(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000296323 -- 88,054,686(-) C/T 3_prime_UTR_variant

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

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

Variation tolerance for CGGBP1 Gene

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

Additional Variant Information 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
  • fxs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 58
  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 (The Journal of biological chemistry 1997) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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) Müller-Hartmann H … Doerfler W (The Journal of biological chemistry 2000) 3 22 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CGGBP1 Gene

Sources for CGGBP1 Gene

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