Aliases for PQBP1 Gene
External Ids for PQBP1 Gene
Previous HGNC Symbols for PQBP1 Gene
Previous GeneCards Identifiers for PQBP1 Gene
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 mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
GeneCards Summary for PQBP1 Gene
PQBP1 (Polyglutamine Binding Protein 1) is a Protein Coding gene. Diseases associated with PQBP1 include renpenning syndrome and alpha-thalassemia/mental retardation syndrome. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include transcription coactivator activity and ribonucleoprotein complex binding.
UniProtKB/Swiss-Prot for PQBP1 Gene
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 (PubMed:23512658). 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.