======= PQBP1 =======
== Gene Information ==
* **Official Symbol**: PQBP1
* **Official Name**: polyglutamine binding protein 1
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10084|10084]]
* **UniProt**: [[https://www.uniprot.org/uniprot/O60828|O60828]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=PQBP1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PQBP1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/300463|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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 Summary**: 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}.
|WW|
|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|
\\
=== CRISPR Data ===
^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|
^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|
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 2432
* **Expression level (log2 read counts)**: 5.29
{{:chemogenomics:nalm6 dist.png?nolink |}}