UBE3A [The Human Chemical-Genetic Interaction Map Project]

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======= UBE3A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: UBE3A
  * **<color #00a2e8>Official Name</color>**: ubiquitin protein ligase E3A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7337|7337]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q05086|Q05086]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=UBE3A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20UBE3A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601623|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. COMPLETENESS: complete on the 3' end. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|HECT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sperm entry|
|negative regulation of dendritic spine morphogenesis|
|progesterone receptor signaling pathway|
|cellular response to brain-derived neurotrophic factor stimulus|
|prostate gland growth|
|negative regulation of dendritic spine development|
|negative regulation of dendrite morphogenesis|
|negative regulation of synapse organization|
|negative regulation of dendrite development|
|androgen receptor signaling pathway|
|prostate gland development|
|regulation of dendritic spine morphogenesis|
|response to progesterone|
|cellular response to nerve growth factor stimulus|
|ovarian follicle development|
|response to nerve growth factor|
|protein K48-linked ubiquitination|
|response to cocaine|
|proteasome complex|
|protein autoubiquitination|
|intracellular steroid hormone receptor signaling pathway|
|regulation of dendritic spine development|
|response to anesthetic|
|positive regulation of phosphatidylinositol 3-kinase signaling|
|female gonad development|
|regulation of dendrite morphogenesis|
|development of primary female sexual characteristics|
|organ growth|
|regulation of postsynapse organization|
|negative regulation of cell morphogenesis involved in differentiation|
|female sex differentiation|
|response to alkaloid|
|regulation of circadian rhythm|
|positive regulation of protein ubiquitination|
|response to hydrogen peroxide|
|regulation of phosphatidylinositol 3-kinase signaling|
|steroid hormone mediated signaling pathway|
|positive regulation of protein modification by small protein conjugation or removal|
|single fertilization|
|regulation of dendrite development|
|regulation of ubiquitin-dependent protein catabolic process|
|negative regulation of neuron projection development|
|intracellular receptor signaling pathway|
|fertilization|
|hormone-mediated signaling pathway|
|negative regulation of cell projection organization|
|response to ammonium ion|
|cellular response to steroid hormone stimulus|
|response to ketone|
|response to reactive oxygen species|
|regulation of protein ubiquitination|
|gonad development|
|development of primary sexual characteristics|
|regulation of proteolysis involved in cellular protein catabolic process|
|regulation of synapse organization|
|ubiquitin protein ligase activity|
|negative regulation of neuron differentiation|
|regulation of synapse structure or activity|
|regulation of protein modification by small protein conjugation or removal|
|ubiquitin-protein transferase activity|
|regulation of cellular protein catabolic process|
|sex differentiation|
|rhythmic process|
|transcription coactivator activity|
|negative regulation of neurogenesis|
|protein polyubiquitination|
|response to xenobiotic stimulus|
|regulation of cell morphogenesis involved in differentiation|
|response to antibiotic|
|negative regulation of nervous system development|
|urogenital system development|
|proteasome-mediated ubiquitin-dependent protein catabolic process|
|response to steroid hormone|
|negative regulation of cell development|
|proteasomal protein catabolic process|
|regulation of protein catabolic process|
|response to oxidative stress|
|developmental growth|
|growth|
|gland development|
|reproductive structure development|
|reproductive system development|
|regulation of cell morphogenesis|
|regulation of neuron projection development|
|cellular response to growth factor stimulus|
|response to toxic substance|
|cellular response to lipid|
|ubiquitin-dependent protein catabolic process|
|response to growth factor|
|modification-dependent protein catabolic process|
|response to inorganic substance|
|cellular response to organic cyclic compound|
|modification-dependent macromolecule catabolic process|
|endocytosis|
|proteolysis involved in cellular protein catabolic process|
|cellular response to hormone stimulus|
|cellular protein catabolic process|
|regulation of neuron differentiation|
|developmental process involved in reproduction|
|import into cell|
|protein catabolic process|
|protein ubiquitination|
|regulation of plasma membrane bounded cell projection organization|
|viral process|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|regulation of proteolysis|
|brain development|
|protein modification by small protein conjugation|
|head development|
|symbiotic process|
|regulation of neurogenesis|
|interspecies interaction between organisms|
|sexual reproduction|
|regulation of cellular catabolic process|
|response to lipid|
|cellular macromolecule catabolic process|
|response to hormone|
|response to organic cyclic compound|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|central nervous system development|
|protein modification by small protein conjugation or removal|
|regulation of catabolic process|
|multi-organism reproductive process|
|response to organonitrogen compound|
|response to drug|
|positive regulation of intracellular signal transduction|
|macromolecule catabolic process|
|regulation of anatomical structure morphogenesis|
|organonitrogen compound catabolic process|
|response to nitrogen compound|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|proteolysis|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|generation of neurons|
|positive regulation of transcription, DNA-templated|
|response to oxygen-containing compound|
|positive regulation of cellular protein metabolic process|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of signal transduction|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|vesicle-mediated transport|
|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:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-2.56|
|[[:results:exp83|Trametinib 10μM R02 exp83]]|-2.33|
|[[:results:exp120|Dimethyl-Sulfoxide 1pc R03 exp120]]|-2.17|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|-2.14|
|[[:results:exp274|Citral 50μM R06 exp274]]|-2.06|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|-1.96|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|-1.94|
|[[:results:exp407|Thapsigargin 0.005μM R07 exp407]]|-1.89|
|[[:results:exp123|GSK-LSD1 10μM R03 exp123]]|-1.84|
|[[:results:exp492|iCRT14 30μM R08 exp492]]|-1.81|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|-1.73|
|[[:results:exp451|Atovaquone 15μM R08 exp451]]|1.73|
|[[:results:exp34|Rotenone 20μM R00 exp34]]|1.85|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|2.01|
|[[:results:exp19|Etoposide 1μM R00 exp19]]|2.06|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.08|
|[[:results:exp517|Quercetin 20μM R08 exp517]]|2.27|
|[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|2.35|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|2.87|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|2.93|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|3.59|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|5.78|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:k:khdrbs1|KHDRBS1]]|0.58|
|[[:human genes:m:max|MAX]]|0.508|
|[[:human genes:f:fbxo11|FBXO11]]|0.504|
|[[:human genes:m:mllt1|MLLT1]]|0.491|
|[[:human genes:m:med23|MED23]]|0.488|
|[[:human genes:c:cbfb|CBFB]]|0.483|
|[[:human genes:m:med16|MED16]]|0.482|
|[[:human genes:t:thoc6|THOC6]]|0.48|
|[[:human genes:c:casp3|CASP3]]|0.473|
|[[:human genes:c:cul4a|CUL4A]]|0.47|
|[[:human genes:c:ccdc101|CCDC101]]|0.457|
|[[:human genes:b:btaf1|BTAF1]]|0.451|
|[[:human genes:s:smarcd1|SMARCD1]]|0.446|
|[[:human genes:u:ube2g1|UBE2G1]]|0.446|
|[[:human genes:c:ccnc|CCNC]]|0.445|
|[[:human genes:m:med13|MED13]]|0.442|
|[[:human genes:d:dcaf5|DCAF5]]|0.441|
|[[:human genes:d:dpagt1|DPAGT1]]|0.432|
|[[:human genes:r:runx1|RUNX1]]|0.431|
|[[:human genes:c:clk3|CLK3]]|0.429|
|[[:human genes:s:sp3|SP3]]|0.425|
|[[:human genes:t:tp53|TP53]]|0.425|
|[[:human genes:t:taf6l|TAF6L]]|0.424|
|[[:human genes:t:tada2b|TADA2B]]|0.422|
|[[:human genes:w:wdr24|WDR24]]|0.418|
|[[:human genes:t:taf5l|TAF5L]]|0.418|
|[[:human genes:t:tada1|TADA1]]|0.415|
|[[:human genes:a:arih1|ARIH1]]|0.415|
|[[:human genes:s:ssbp2|SSBP2]]|0.409|
|[[:human genes:a:alg5|ALG5]]|0.404|
|[[:human genes:d:dohh|DOHH]]|0.404|
|[[:human genes:c:casp8|CASP8]]|0.402|
|[[:human genes:m:mapk14|MAPK14]]|0.401|
|[[:human genes:b:brd9|BRD9]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6390
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='UBE3A Expression in NALM6 Cells: 7.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>