Rabbit anti-Human PQBP1 Polyclonal Antibody

Uniprot Id

O60828

Target Species

Human

Target Name

PQBP1

Target Full Name

Polyglutamine-binding protein 1

Target Function

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 in 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 CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production.

Target Involvement

Renpenning syndrome 1 (RENS1)

Target Subcellular Location

Nucleus. Nucleus speckle. Cytoplasmic granule.

Target Tissue Specificity

Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.

Target Synonyms

38 kDa nuclear protein containing a WW domain; Mental retardation; X linked 55; MRX55; MRXS3; MRXS8; Npw38; Nuclear protein containing WW domain 38 kD; OTTHUMP00000025808; Polyglutamine binding protein 1; Polyglutamine tract binding protein 1; Polyglutamine tract-binding protein 1; Polyglutamine-binding protein 1; PQBP 1; PQBP-1; PQBP1; PQBP1_HUMAN; RENS1; SHS; Sutherland Haan X linked mental retardation syndrome

Target Background

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.