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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
  • 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. GO annotations related to this gene include double-stranded 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

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

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

Antibody Products

No data available for DME Specific Peptides for CGGBP1 Gene

Domains 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 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription 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

miRNA for CGGBP1 Gene

miRTarBase miRNAs that target CGGBP1

miRNA 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 Targeting 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 5
mitochondrion 2
cytosol 1
extracellular 1

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 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 for CGGBP1 Gene

Transcripts for CGGBP1 Gene

Unigene Clusters for CGGBP1 Gene

CGG triplet repeat binding protein 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Primer 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 for CGGBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CGGBP1 Gene

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

Integrated Proteomics: protein expression 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 expressions with CGGBP1: view

Expression partners for CGGBP1 Gene

In Situ Assay Products

No data available for 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

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

No disorders were found for CGGBP1 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links 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
  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
  3. 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 23
  4. 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
  5. From ORFeome to biology: a functional genomics pipeline. (PMID: 15489336) Wiemann S. … Poustka A. (Genome Res. 2004) 3

Products for CGGBP1 Gene

Sources for CGGBP1 Gene

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