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Product Name CGGBP1 Chinese Name CGGBinding protein1抗体 Alias 20 kDa CGG binding protein; 20 kDa CGG-binding protein; CGBP1_HUMAN; CGG binding protein 1; CGG triplet repeat binding protein 1; CGG triplet repeat-binding protein 1; CGG-binding protein 1; CGGBP 1; CGGBP; Cggbp1; OTTHUMP00000213853; OTTHUMP00000213877; p20 CGG binding protein; p20 CGGBP; p20 CGGBP DNA binding protein; p20-CGGBP DNA-binding protein. Research Area Cell biology Signal transduction Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Pig, Cow, ) Applications ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 19kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CGGBP1: 1-100/167 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Fragile X syndrome is the most frequent form of inherited mental retardation and is the result of transcriptional silencing of the FMR1 (fragile X mental retardation) gene on the X chromosome. The FMR1 gene contains a distinct CpG dinucleotide repeat located in the 5’-untranslated region of the gene which, in fragile X syndrome, is substantially amplified and subject to extensive methylation and enhanced transcriptional silencing. CGGBP1 (CGG triplet repeat binding protein 1), also known as CGGBP or p20-CGGBP, is a 167 amino acid nuclear protein that influences FMR1 expression. Highly expressed in thymus, placenta, lymph nodes, cerebral cortex and cerebellum, CGGBP1 binds to the 5’ (CGG)n-3’ repeat in the promotor of the FMR1 gene and positively regulates expression of the FMR1 protein. Binding of CGGBP1 to the FMR1 promoter is inhibited by cytosine-specific DNA methylation of the protein binding motif, suggesting that CGGBP1 activity is silenced in FMR1-affected individuals.
Function:
Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
SWISS:
Q9UFW8
Gene ID:
8545
Database links:Entrez Gene: 8545 Human
Omim: 603363 Human
SwissProt: Q9UFW8 Human
Unigene: 444818 Human
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