Tbio PQBP1 Polyglutamine-binding protein 1

Protein Summary

Description

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 to 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). 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]

Uniprot Accession IDs

• O60828
• C9JQA1
• Q4VY25
• Q4VY26
• Q4VY27
• Q4VY29
• Q4VY30
• Q4VY34
• Q4VY35
• Q4VY36
• Q4VY37
• Q4VY38
• Q9GZP2
• Q9GZU4
• Q9GZZ4
• PQBP-1

Gene Name

• PQBP1

Ensembl ID

• ENST00000218224
• ENSP00000218224
• ENSG00000102103
• ENST00000247140
• ENSP00000247140
• ENST00000376563
• ENSP00000365747
• ENST00000376566
• ENSP00000365750
• ENST00000396763
• ENSP00000379985
• ENST00000447146
• ENSP00000391759

Symbol

• NPW38
• SHS
• MRX2
• MRX55
• MRXS3
• MRXS8
• NPW38
• RENS1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.99
histone modification site profile	0.91
kinase perturbation	0.84
cellular component	0.77
tissue sample	0.72

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Transcription Cofactor / Polyglutamine-binding Protein 1

Protein / Enzyme Modulator / Polyglutamine-binding Protein 1

DTO Classes

Protein / Transcription Factor / Transcription Cofactor / Polyglutamine-binding Protein 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 77   (req: < 5)

Gene RIFs: 36   (req: <= 3)

Antibodies: 145   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 77   (req: >= 5)

Gene RIFs: 36   (req: > 3)

Antibodies: 145   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0