PQBP1 Antibody – Mouse Monoclonal

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]

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-linked 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: nucleoplasm; stress granule; cytoplasm; nuclear speck; nucleus

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

Biological Process: alternative nuclear mRNA splicing, via spliceosome; transcription, DNA-dependent; regulation of transcription, DNA-dependent; regulation of RNA splicing; regulation of dendrite morphogenesis; neurite development

Disease: Renpenning Syndrome 1