======= AP3B1 ======= == Gene Information == * **Official Symbol**: AP3B1 * **Official Name**: adaptor related protein complex 3 subunit beta 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8546|8546]] * **UniProt**: [[https://www.uniprot.org/uniprot/O00203|O00203]] * **Interactions**: [[https://thebiogrid.org/search.php?search=AP3B1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AP3B1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/603401|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. * **UniProt Summary**: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. |Adaptin N| |synaptic vesicle budding from endosome| |synaptic vesicle recycling via endosome| |positive regulation of NK T cell differentiation| |regulation of NK T cell differentiation| |antigen processing and presentation of lipid antigen via MHC class Ib| |antigen processing and presentation, exogenous lipid antigen via MHC class Ib| |synaptic vesicle endosomal processing| |synaptic vesicle budding| |clathrin adaptor complex| |AP-3 adaptor complex| |synaptic vesicle transport along microtubule| |synaptic vesicle cytoskeletal transport| |anterograde synaptic vesicle transport| |antigen processing and presentation via MHC class Ib| |protein targeting to lysosome| |GTP-dependent protein binding| |melanosome organization| |pigment granule organization| |synaptic vesicle transport| |protein targeting to vacuole| |protein localization to lysosome| |synaptic vesicle localization| |vesicle transport along microtubule| |anterograde axonal transport| |positive regulation of alpha-beta T cell differentiation| |establishment of protein localization to vacuole| |cellular pigmentation| |vesicle cytoskeletal trafficking| |synaptic vesicle recycling| |clathrin-coated vesicle membrane| |axonal transport| |axon cytoplasm| |positive regulation of alpha-beta T cell activation| |regulation of alpha-beta T cell differentiation| |protein localization to vacuole| |axo-dendritic transport| |organelle transport along microtubule| |positive regulation of T cell differentiation| |protein phosphatase binding| |pigmentation| |regulation of alpha-beta T cell activation| |positive regulation of lymphocyte differentiation| |vesicle budding from membrane| |lysosomal transport| |synaptic vesicle cycle| |vesicle-mediated transport in synapse| |regulation of T cell differentiation| |vacuolar transport| |positive regulation of leukocyte differentiation| |transport along microtubule| |regulation of lymphocyte differentiation| |establishment of vesicle localization| |cytoskeleton-dependent intracellular transport| |microtubule-based transport| |antigen processing and presentation of exogenous antigen| |vesicle localization| |positive regulation of hemopoiesis| |positive regulation of T cell activation| |positive regulation of leukocyte cell-cell adhesion| |antigen processing and presentation| |endosomal transport| |positive regulation of cell-cell adhesion| |synapse| |microtubule-based movement| |regulation of leukocyte differentiation| |blood coagulation| |coagulation| |regulation of leukocyte cell-cell adhesion| |hemostasis| |vesicle organization| |lysosomal membrane| |regulation of T cell activation| |protein targeting| |positive regulation of lymphocyte activation| |establishment of organelle localization| |regulation of cell-cell adhesion| |positive regulation of cell adhesion| |positive regulation of leukocyte activation| |positive regulation of cell activation| |establishment of protein localization to organelle| |regulation of hemopoiesis| |wound healing| |regulation of body fluid levels| |regulation of lymphocyte activation| |response to wounding| |organelle localization| |regulation of leukocyte activation| |regulation of cell activation| |microtubule-based process| |regulation of cell adhesion| |protein localization to organelle| |membrane organization| |positive regulation of cell differentiation| |Golgi apparatus| |intracellular protein transport| |positive regulation of immune system process| |positive regulation of developmental process| |protein transport| |intracellular transport| |peptide transport| |movement of cell or subcellular component| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |regulation of immune system process| |positive regulation of multicellular organismal process| |regulation of cell differentiation| |establishment of localization in cell| |nitrogen compound transport| |vesicle-mediated transport| |membrane| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp116|AICAR 240μM R03 exp116]]|-2.05| |[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-2.03| |[[:results:exp79|Q15 2.7μM R02 exp79]]|-2.02| |[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|-2| |[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-1.93| |[[:results:exp142|OICR-9429 10μM R03 exp142]]|-1.92| |[[:results:exp356|Docosahexaenoic-acid 50μM R07 exp356]]|-1.84| |[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|1.7| |[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|1.75| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 2/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|1/28| |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| == Essentiality in NALM6 == * **Essentiality Rank**: 14312 * **Expression level (log2 read counts)**: 6.43 {{:chemogenomics:nalm6 dist.png?nolink |}}