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Ask your administrator if you think this is wrong. ======= KIAA0226 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RUBCN * **<color #00a2e8>Official Name</color>**: rubicon autophagy regulator * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9711|9711]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92622|Q92622]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KIAA0226&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KIAA0226|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613516|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. * **<color #00a2e8>UniProt Summary</color>**: Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745). {ECO:0000269|PubMed:20974968, ECO:0000269|PubMed:21062745}. <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'> |RUN| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |negative regulation of autophagosome maturation| |negative regulation of phosphatidylinositol 3-kinase activity| |negative regulation of lipid kinase activity| |negative regulation of phospholipid metabolic process| |regulation of autophagosome maturation| |negative regulation of macroautophagy| |multivesicular body sorting pathway| |negative regulation of endocytosis| |regulation of phosphatidylinositol 3-kinase activity| |regulation of lipid kinase activity| |negative regulation of protein complex disassembly| |negative regulation of lipid metabolic process| |negative regulation of autophagy| |regulation of phospholipid metabolic process| |regulation of protein complex disassembly| |late endosome| |regulation of macroautophagy| |regulation of endocytosis| |negative regulation of kinase activity| |lysosome| |negative regulation of cellular catabolic process| |early endosome| |autophagy| |process utilizing autophagic mechanism| |negative regulation of transferase activity| |negative regulation of catabolic process| |phagocytosis| |regulation of autophagy| |regulation of lipid metabolic process| |negative regulation of phosphorylation| |negative regulation of transport| |regulation of vesicle-mediated transport| |endocytosis| |negative regulation of phosphate metabolic process| |negative regulation of phosphorus metabolic process| |import into cell| |intracellular membrane-bounded organelle| |negative regulation of cellular component organization| |negative regulation of catalytic activity| |regulation of cellular catabolic process| |regulation of kinase activity| |regulation of transferase activity| |Golgi apparatus| |regulation of catabolic process| |negative regulation of molecular function| |regulation of organelle organization| |regulation of phosphorylation| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |cellular catabolic process| |regulation of transport| |vesicle-mediated transport| </modal> \\ === CRISPR Data === <button type='default' 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'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:h:hgc6.3|HGC6.3]]|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: 0/739 ^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>**: 3450 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.02 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='KIAA0226 Expression in NALM6 Cells: 6.02'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1