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Aliases for CGGBP1 Gene

Aliases for CGGBP1 Gene

  • CGG Triplet Repeat Binding Protein 1 2 3
  • 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
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CGGBP1 Gene at MOPED

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

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 IMP 10692448
GO:0003690 double-stranded DNA binding 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

  • Predesigned siRNA for gene silencing in human,mouse,rat for CGGBP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for CGGBP1 Gene COMPARTMENTS Subcellular localization image for CGGBP1 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for CGGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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 --
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CGGBP1

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 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, MOPED, and MaxQB for CGGBP1 Gene



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

Protein tissue co-expression partners for CGGBP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia CGGBP1 35
  • 96.21 (n)
  • 100 (a)
-- 36
  • 99 (a)
OneToMany
CGGBP1 36
  • 100 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CGGBP1 35
  • 96.81 (n)
  • 100 (a)
CGGBP1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cggbp1 35
  • 91.62 (n)
  • 98.2 (a)
Cggbp1 16
Cggbp1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CGGBP1 35
  • 100 (n)
  • 100 (a)
CGGBP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cggbp1 35
  • 91.82 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia CGGBP1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves CGGBP1 35
  • 81.12 (n)
  • 88.48 (a)
lizard
(Anolis carolinensis)
Reptilia CGGBP1 36
  • 65 (a)
OneToOne
Species with no ortholog for CGGBP1:
  • 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 MAF
rs14746 -- 88,052,208(+) GAAAT(C/T)TATGA utr-variant-3-prime
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

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

Variant ID Type Subtype PubMed ID
nsv877146 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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
  • mental retardation, x-linked, fraxe type
- elite association

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 67
  2. 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) 23 67
  3. 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 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for CGGBP1 Gene

Sources for CGGBP1 Gene

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