PQBP1

PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999 [PubMed 10332029]).[supplied by OMIM

polyglutamine binding protein 1

Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658).
Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308).
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 (PubMed:10198427).
May be involved in ATXN1 mutant-induced cell death (PubMed:12062018).
The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018).
Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules (PubMed:21933836).
Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437).
Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).

Activation of innate immune responseManual Assertion Based On ExperimentIDA:UniProtKB
Alternative mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to exogenous dsRNAManual Assertion Based On ExperimentIDA:UniProtKB
Defense response to virusManual Assertion Based On ExperimentIDA:UniProtKB
Innate immune responseIEA:UniProtKB-KW
Neuron projection developmentISS:UniProtKB
Positive regulation of defense response to virus by hostManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of type I interferon productionManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of dendrite morphogenesisIEA:Ensembl
Regulation of RNA splicingManual Assertion Based On ExperimentIMP:MGI
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentTAS:ProtInc

Nucleus
Nucleus speckle
Cytoplasmic granule
Colocalizes with SRSF2 in nuclear speckles (By similarity).
Colocalized with POU3F2 (PubMed:10332029).
Colocalized with ATXN1 in nuclear inclusion bodies (PubMed:12062018).
Localizes to cytoplasmic stress granules (PubMed:21933836).

Renpenning syndrome 1 (RENS1):
An X-linked syndrome characterized by intellectual disability, 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.