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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q21.31
Chromosome location (bp)
42810134 - 42833350
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a central role in autophagy 1,2,3,4,5,6,7. Acts as a core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abscission step in cytokinesis, probably in the context of PI3KC3-C2 8,9,10,11. Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis 12. May play a role in antiviral host defense....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000045[autophagosome assembly] GO:0000407[phagophore assembly site] GO:0000422[autophagy of mitochondrion] GO:0000423[mitophagy] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005768[endosome] GO:0005776[autophagosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006468[protein phosphorylation] GO:0006622[protein targeting to lysosome] GO:0006897[endocytosis] GO:0006914[autophagy] GO:0006915[apoptotic process] GO:0006968[cellular defense response] GO:0006995[cellular response to nitrogen starvation] GO:0007049[cell cycle] GO:0007080[mitotic metaphase plate congression] GO:0010008[endosome membrane] GO:0010506[regulation of autophagy] GO:0010508[positive regulation of autophagy] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016241[regulation of macroautophagy] GO:0016604[nuclear body] GO:0019898[extrinsic component of membrane] GO:0019901[protein kinase binding] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0032465[regulation of cytokinesis] GO:0032801[receptor catabolic process] GO:0033554[cellular response to stress] GO:0034271[phosphatidylinositol 3-kinase complex, class III, type I] GO:0034272[phosphatidylinositol 3-kinase complex, class III, type II] GO:0035032[phosphatidylinositol 3-kinase complex, class III] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0039521[suppression by virus of host autophagy] GO:0042149[cellular response to glucose starvation] GO:0043066[negative regulation of apoptotic process] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0045022[early endosome to late endosome transport] GO:0045324[late endosome to vacuole transport] GO:0048583[regulation of response to stimulus] GO:0051020[GTPase binding] GO:0051301[cell division] GO:0051607[defense response to virus] GO:0060548[negative regulation of cell death] GO:0061912[selective autophagy] GO:0097352[autophagosome maturation] GO:0098780[response to mitochondrial depolarisation] GO:1902425[positive regulation of attachment of mitotic spindle microtubules to kinetochore] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Transporters MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000045[autophagosome assembly] GO:0000407[phagophore assembly site] GO:0000422[autophagy of mitochondrion] GO:0000423[mitophagy] GO:0001666[response to hypoxia] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005768[endosome] GO:0005776[autophagosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0005829[cytosol] GO:0006468[protein phosphorylation] GO:0006622[protein targeting to lysosome] GO:0006897[endocytosis] GO:0006914[autophagy] GO:0006915[apoptotic process] GO:0006968[cellular defense response] GO:0006995[cellular response to nitrogen starvation] GO:0007040[lysosome organization] GO:0007049[cell cycle] GO:0007080[mitotic metaphase plate congression] GO:0007568[aging] GO:0008285[negative regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0010008[endosome membrane] GO:0010040[response to iron(II) ion] GO:0010288[response to lead ion] GO:0010506[regulation of autophagy] GO:0010507[negative regulation of autophagy] GO:0010508[positive regulation of autophagy] GO:0010613[positive regulation of cardiac muscle hypertrophy] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016241[regulation of macroautophagy] GO:0016604[nuclear body] GO:0019898[extrinsic component of membrane] GO:0019901[protein kinase binding] GO:0030425[dendrite] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0031667[response to nutrient levels] GO:0031966[mitochondrial membrane] GO:0032465[regulation of cytokinesis] GO:0032801[receptor catabolic process] GO:0032991[protein-containing complex] GO:0033197[response to vitamin E] GO:0033554[cellular response to stress] GO:0034198[cellular response to amino acid starvation] GO:0034271[phosphatidylinositol 3-kinase complex, class III, type I] GO:0034272[phosphatidylinositol 3-kinase complex, class III, type II] GO:0035032[phosphatidylinositol 3-kinase complex, class III] GO:0036092[phosphatidylinositol-3-phosphate biosynthetic process] GO:0039521[suppression by virus of host autophagy] GO:0042149[cellular response to glucose starvation] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043652[engulfment of apoptotic cell] GO:0045022[early endosome to late endosome transport] GO:0045324[late endosome to vacuole transport] GO:0045335[phagocytic vesicle] GO:0048583[regulation of response to stimulus] GO:0048666[neuron development] GO:0050435[amyloid-beta metabolic process] GO:0050790[regulation of catalytic activity] GO:0051020[GTPase binding] GO:0051301[cell division] GO:0051607[defense response to virus] GO:0051707[response to other organism] GO:0060548[negative regulation of cell death] GO:0061912[selective autophagy] GO:0070301[cellular response to hydrogen peroxide] GO:0071275[cellular response to aluminum ion] GO:0071280[cellular response to copper ion] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0097352[autophagosome maturation] GO:0098780[response to mitochondrial depolarisation] GO:1902425[positive regulation of attachment of mitotic spindle microtubules to kinetochore] GO:1902902[negative regulation of autophagosome assembly] GO:1905672[negative regulation of lysosome organization] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000786[positive regulation of autophagosome assembly] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
