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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.
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
q21.32
Chromosome location (bp)
48929316 - 48944842
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan 1....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Protein transport, Transcription, Transcription regulation, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q96H20 [Direct mapping] Vacuolar-sorting protein SNF8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000814[ESCRT II complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008022[protein C-terminus binding] GO:0008289[lipid binding] GO:0010008[endosome membrane] GO:0010628[positive regulation of gene expression] GO:0015031[protein transport] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016247[channel regulator activity] GO:0031902[late endosome membrane] GO:0032456[endocytic recycling] GO:0036258[multivesicular body assembly] GO:0042176[regulation of protein catabolic process] GO:0042803[protein homodimerization activity] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0045022[early endosome to late endosome transport] GO:0045732[positive regulation of protein catabolic process] GO:0047485[protein N-terminus binding] GO:0048471[perinuclear region of cytoplasm] GO:0051179[localization] GO:0055037[recycling endosome] GO:0061635[regulation of protein complex stability] GO:0070062[extracellular exosome] GO:0071985[multivesicular body sorting pathway] GO:0090148[membrane fission] GO:1903543[positive regulation of exosomal secretion] GO:1903772[regulation of viral budding via host ESCRT complex]
Q96H20 [Direct mapping] Vacuolar-sorting protein SNF8
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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:0000814[ESCRT II complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008022[protein C-terminus binding] GO:0008289[lipid binding] GO:0010008[endosome membrane] GO:0010628[positive regulation of gene expression] GO:0015031[protein transport] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016247[channel regulator activity] GO:0031902[late endosome membrane] GO:0032456[endocytic recycling] GO:0036258[multivesicular body assembly] GO:0042176[regulation of protein catabolic process] GO:0042803[protein homodimerization activity] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0045022[early endosome to late endosome transport] GO:0045732[positive regulation of protein catabolic process] GO:0047485[protein N-terminus binding] GO:0048471[perinuclear region of cytoplasm] GO:0051179[localization] GO:0055037[recycling endosome] GO:0061635[regulation of protein complex stability] GO:0070062[extracellular exosome] GO:0071985[multivesicular body sorting pathway] GO:0090148[membrane fission] GO:1903543[positive regulation of exosomal secretion] GO:1903772[regulation of viral budding via host ESCRT complex]
The Human Protein Atlas project is funded
