DISEASES

Disease-gene associations mined from literature

Literature associating PQBP1 and Renpenning syndrome

PQBP1 [ENSP00000218224]

38 kDa nuclear protein containing a WW domain; 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. Interacts with splicing-related factors via the intrinsically disordered region and regulates 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. Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules. 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. Directly binds retroviral reverse- transcribed DNA in the cytosol and interacts with MB21D1/cGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production; Spliceosomal B complex

Synonyms:  PQBP1,  PQBP1p,  hPQBP1,  C9JQA1,  O60828 ...

Linkouts:  STRING  Pharos  UniProt  OMIM