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Polyglutamine-binding protein

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Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species . May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.

Below are the list of possible Polyglutamine-binding protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Polyglutamine-binding protein 1

 Polyglutamine-binding protein 1 ELISA Kit
 Polyglutamine-binding protein 1 Recombinant
 Polyglutamine-binding protein 1 Antibody
Also known as Polyglutamine-binding protein 1 (PQBP-1) (38 kDa nuclear protein containing a WW domain) (Npw38) (Polyglutamine tract-binding protein 1).
PQBP1: May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1); also known as Sutherland-Haan X-link
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ed mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinical features are mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. RENS1 is more frequently in males than in females where little or no expression is found. 10 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: Xp11.23

Cellular Component: cytoplasm; nuclear speck; nucleoplasm; nucleus

Molecular Function: DNA binding; protein binding; ribonucleoprotein binding; transcription coactivator activity

Biological Process: alternative nuclear mRNA splicing, via spliceosome; neurite development; regulation of RNA splicing

Disease: Renpenning Syndrome 1
 PQBP1 ELISA Kit
 PQBP1 Recombinant
 PQBP1 Antibody
 NPW38 ELISA Kit
 NPW38 Recombinant
 NPW38 Antibody
 JM26 ELISA Kit
 JM26 Recombinant
 JM26 Antibody
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