PAXIP1 [The Human Chemical-Genetic Interaction Map Project]

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======= PAXIP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PAXIP1
  * **<color #00a2e8>Official Name</color>**: PAX interacting protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=22976|22976]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6ZW49|Q6ZW49]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PAXIP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PAXIP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608254|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity). {ECO:0000250|UniProtKB:Q6NZQ4, ECO:0000269|PubMed:14576432, ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115, ECO:0000269|PubMed:17925232, ECO:0000269|PubMed:18353733, ECO:0000269|PubMed:20088963, ECO:0000269|PubMed:23727112}.

<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'>
|BRCT|
|PTCB-BRCT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of histone H3-K36 methylation|
|regulation of histone H3-K36 methylation|
|chorion development|
|extraembryonic membrane development|
|positive regulation of isotype switching to IgG isotypes|
|regulation of isotype switching to IgG isotypes|
|MLL3/4 complex|
|positive regulation of histone H3-K4 methylation|
|positive regulation of transcription initiation from RNA polymerase II promoter|
|positive regulation of isotype switching|
|positive regulation of DNA-templated transcription, initiation|
|regulation of transcription initiation from RNA polymerase II promoter|
|regulation of histone H3-K4 methylation|
|positive regulation of histone acetylation|
|positive regulation of peptidyl-lysine acetylation|
|regulation of isotype switching|
|adipose tissue development|
|regulation of DNA-templated transcription, initiation|
|histone H3-K4 methylation|
|positive regulation of B cell mediated immunity|
|positive regulation of immunoglobulin mediated immune response|
|positive regulation of histone methylation|
|positive regulation of DNA recombination|
|positive regulation of protein acetylation|
|histone methyltransferase complex|
|positive regulation of immunoglobulin production|
|regulation of B cell mediated immunity|
|regulation of immunoglobulin mediated immune response|
|regulation of histone acetylation|
|double-strand break repair via nonhomologous end joining|
|regulation of peptidyl-lysine acetylation|
|non-recombinational repair|
|regulation of immunoglobulin production|
|endothelial cell migration|
|regulation of histone methylation|
|vasculogenesis|
|regulation of protein acetylation|
|histone lysine methylation|
|DNA damage response, signal transduction by p53 class mediator|
|epithelial cell migration|
|epithelium migration|
|peptidyl-lysine methylation|
|positive regulation of histone modification|
|histone methylation|
|tissue migration|
|positive regulation of production of molecular mediator of immune response|
|positive regulation of response to DNA damage stimulus|
|positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|regulation of DNA recombination|
|signal transduction in response to DNA damage|
|positive regulation of chromatin organization|
|positive regulation of lymphocyte mediated immunity|
|positive regulation of adaptive immune response|
|nuclear matrix|
|positive regulation of protein ubiquitination|
|signal transduction by p53 class mediator|
|chromosome|
|positive regulation of leukocyte mediated immunity|
|positive regulation of protein modification by small protein conjugation or removal|
|protein alkylation|
|protein methylation|
|regulation of production of molecular mediator of immune response|
|regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|regulation of histone modification|
|response to ionizing radiation|
|regulation of lymphocyte mediated immunity|
|negative regulation of DNA-binding transcription factor activity|
|regulation of adaptive immune response|
|positive regulation of B cell activation|
|ameboidal-type cell migration|
|positive regulation of chromosome organization|
|double-strand break repair|
|regulation of chromatin organization|
|positive regulation of DNA metabolic process|
|regulation of protein ubiquitination|
|regulation of leukocyte mediated immunity|
|regulation of B cell activation|
|regulation of cell cycle G2/M phase transition|
|regulation of response to DNA damage stimulus|
|positive regulation of immune effector process|
|DNA recombination|
|connective tissue development|
|regulation of protein modification by small protein conjugation or removal|
|macromolecule methylation|
|methylation|
|peptidyl-lysine modification|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|positive regulation of lymphocyte activation|
|histone modification|
|covalent chromatin modification|
|positive regulation of leukocyte activation|
|blood vessel morphogenesis|
|positive regulation of cell activation|
|regulation of DNA-binding transcription factor activity|
|response to radiation|
|regulation of cell cycle phase transition|
|regulation of immune effector process|
|blood vessel development|
|DNA repair|
|vasculature development|
|regulation of lymphocyte activation|
|cardiovascular system development|
|regulation of leukocyte activation|
|positive regulation of organelle organization|
|regulation of cell activation|
|tube morphogenesis|
|chromatin organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|tube development|
|positive regulation of immune response|
|circulatory system development|
|peptidyl-amino acid modification|
|cell migration|
|chromosome organization|
|cell motility|
|localization of cell|
|negative regulation of molecular function|
|positive regulation of immune system process|
|regulation of immune response|
|response to abiotic stimulus|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of protein modification process|
|regulation of organelle organization|
|locomotion|
|positive regulation of developmental process|
|regulation of response to stress|
|positive regulation of transcription, DNA-templated|
|movement of cell or subcellular component|
|positive regulation of cellular protein metabolic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of immune system process|
|intracellular signal transduction|
|cellular response to stress|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of 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:exp89|Vemurafenib 6.6μM R02 exp89]]|-2.35|
|[[:results:exp235|Geldanamycin 0.01μM R05 exp235]]|-2.2|
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-2.13|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|-2.08|
|[[:results:exp215|Colchicine 0.009μM R05 exp215]]|-2|
|[[:results:exp151|SGC0946 7μM R03 exp151]]|-1.99|
|[[:results:exp248|UM0131023 0.05μM R05 exp248]]|-1.98|
|[[:results:exp162|BI-D1870 2μM R04 exp162]]|-1.89|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|-1.86|
|[[:results:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|-1.86|
|[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-1.84|
|[[:results:exp481|Ethambutol 25μM R08 exp481]]|-1.8|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|-1.8|
|[[:results:exp115|A-366 10μM R03 exp115]]|-1.78|
|[[:results:exp330|5-Azacytidine 2μM R07 exp330]]|-1.75|
|[[:results:exp107|UMK57 0.6μM R03 exp107]]|-1.74|
|[[:results:exp46|HMS-I1 1μM R01 exp46]]|-1.73|
|[[:results:exp139|Nicotinamide Riboside 100μM R03 exp139]]|-1.73|
|[[:results:exp453|B02 10μM R08 exp453]]|-1.72|
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|1.95|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:adsl|ADSL]]|0.442|
|[[:human genes:a:asb3|ASB3]]|0.433|
|[[:human genes:r:rpp21|RPP21]]|0.416|
|[[:human genes:e:eef1e1|EEF1E1]]|0.416|
|[[:human genes:f:fnta|FNTA]]|0.413|
|[[:human genes:a:atxn10|ATXN10]]|0.404|
|[[:human genes:l:lsm10|LSM10]]|0.402|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 26/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|3/28|
|bone|0/25|
|breast|2/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|4/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|1/15|
|prostate|0/1|
|skin|2/24|
|soft tissue|1/7|
|thyroid|0/2|
|upper aerodigestive|2/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3946
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.48 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PAXIP1 Expression in NALM6 Cells: 6.48'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>