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Ask your administrator if you think this is wrong. ======= PQBP1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PQBP1 * **<color #00a2e8>Official Name</color>**: polyglutamine binding protein 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10084|10084]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60828|O60828]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PQBP1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PQBP1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300463|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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). {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:20410308, ECO:0000269|PubMed:21933836, ECO:0000269|PubMed:23512658, ECO:0000269|PubMed:26046437}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |WW| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |cellular response to exogenous dsRNA| |alternative mRNA splicing, via spliceosome| |cellular response to dsRNA| |positive regulation of defense response to virus by host| |ribonucleoprotein complex binding| |regulation of defense response to virus by host| |response to exogenous dsRNA| |response to dsRNA| |regulation of defense response to virus| |positive regulation of type I interferon production| |double-stranded DNA binding| |regulation of type I interferon production| |regulation of RNA splicing| |defense response to virus| |activation of innate immune response| |response to virus| |transcription coactivator activity| |RNA splicing, via transesterification reactions with bulged adenosine as nucleophile| |mRNA splicing, via spliceosome| |RNA splicing, via transesterification reactions| |positive regulation of innate immune response| |positive regulation of response to biotic stimulus| |RNA splicing| |nuclear speck| |positive regulation of cytokine production| |regulation of innate immune response| |regulation of immune effector process| |positive regulation of defense response| |mRNA processing| |positive regulation of multi-organism process| |regulation of response to biotic stimulus| |cellular response to organic cyclic compound| |positive regulation of response to external stimulus| |activation of immune response| |cellular response to nitrogen compound| |neuron projection development| |regulation of cytokine production| |mRNA metabolic process| |regulation of defense response| |innate immune response| |regulation of multi-organism process| |neuron development| |positive regulation of immune response| |RNA processing| |response to organic cyclic compound| |defense response to other organism| |neuron differentiation| |response to nitrogen compound| |immune effector process| |regulation of response to external stimulus| |plasma membrane bounded cell projection organization| |positive regulation of immune system process| |regulation of immune response| |cell projection organization| |response to other organism| |response to external biotic stimulus| |response to biotic stimulus| |defense response| |DNA binding| |regulation of response to stress| |generation of neurons| |neurogenesis| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |cell development| |regulation of immune system process| |RNA metabolic process| |positive regulation of RNA metabolic process| |positive regulation of multicellular organismal process| |immune response| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp116|AICAR 240μM R03 exp116]]|1.7| |[[:results:exp147|Resveratrol 16μM R03 exp147]]|1.72| |[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|1.73| |[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|1.73| |[[:results:exp449|Arsenic trioxide 60μM R08 exp449]]|1.74| |[[:results:exp2|5-Fluorouracil 20μM R00 exp2]]|1.75| |[[:results:exp461|BS-181 20μM R08 exp461]]|1.79| |[[:results:exp242|Radicicol 0.16μM R05 exp242]]|1.82| |[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|1.83| |[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|1.86| |[[:results:exp234|Ethanol 0.01 R05 exp234]]|1.93| |[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|1.94| |[[:results:exp492|iCRT14 30μM R08 exp492]]|1.94| |[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|2.04| |[[:results:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|2.04| |[[:results:exp400|Senexin-A 25μM R07 exp400]]|2.07| |[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|2.17| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|2.2| |[[:results:exp474|CR131-b 0.005μM R08 exp474]]|2.25| |[[:results:exp526|Sulforaphane 9μM R08 exp526 no dilution day6]]|2.34| |[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|2.36| |[[:results:exp499|LY2090314 0.003μM R08 exp499]]|2.39| |[[:results:exp66|BI-D1870 3.15μM R02 exp66]]|2.4| |[[:results:exp512|Olaparib 4μM R08 exp512]]|2.57| |[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.58| |[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|2.7| |[[:results:exp135|MS023 7μM R03 exp135]]|2.74| |[[:results:exp525|Sulforaphane 9μM R08 exp525]]|2.84| |[[:results:exp360|Genistein 15μM R07 exp360]]|3.09| |[[:results:exp134|MS023 2μM R03 exp134]]|3.11| |[[:results:exp414|Tozasertib 0.1μM R07 exp414]]|3.26| |[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|3.56| |[[:results:exp198|Etoposide 0.1μM R05 exp198]]|3.78| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:w:wbp11|WBP11]]|0.49| |[[:human genes:z:zfc3h1|ZFC3H1]]|0.418| |[[:human genes:c:c7orf26|C7orf26]]|0.41| |[[:human genes:m:mapkap1|MAPKAP1]]|0.406| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/683 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/25| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/14| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 2432 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.29 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PQBP1 Expression in NALM6 Cells: 5.29'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1