Anti-PQBP1 Antibody, clone 7A1.1 clone 7A1.1, from mouse

Polyglutamine-binding protein 1 (UniProt: O60828; also known as PQBP-1, 38 kDa nuclear protein containing a WW domain, Npw38, Polyglutamine tract-binding protein 1) is encoded by the PQBP1 (also known as NPW38) gene (Gene ID: 10084) in human. PQBP-1 is an intrinsically disordered protein that acts as a scaffold and is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development. It is widely expressed with high levels in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, and small intestine. It is also reported to be expressed in leukocytes. PQBP-1 interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species. It is also reported to suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. It is shown to interact with ATXN1 and this correlates positively with the length of the polyglutamine tract. It also interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner and forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. It may also be involved in ATXN1 mutant-induced cell death and the interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. PQBP-1 contains a WW domain (aa 46-80), which plays a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain also mediates interaction with WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit. Mutations in PQBP1 gene have been linked to Renpenning syndrome 1, which is has been characterized by mental retardation, microcephaly, short stature, and small testes.