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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
12
Cytoband
q24.31
Chromosome location (bp)
122865330 - 122896127
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 ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables calcium-dependent protein binding activity. Involved in positive regulation of viral budding via host ESCRT complex. Located in endosome membrane; midbody; and plasma membrane. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022]...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.
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)
Show all
GO:0000813[ESCRT I complex] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0006612[protein targeting to membrane] GO:0006623[protein targeting to vacuole] GO:0006886[intracellular protein transport] GO:0007034[vacuolar transport] GO:0010008[endosome membrane] GO:0015031[protein transport] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0019076[viral release from host cell] GO:0030496[midbody] GO:0031902[late endosome membrane] GO:0036258[multivesicular body assembly] GO:0039702[viral budding via host ESCRT complex] GO:0043162[ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0048306[calcium-dependent protein binding] GO:0061024[membrane organization] GO:0070062[extracellular exosome] GO:0072666[establishment of protein localization to vacuole] GO:0090148[membrane fission] GO:1903774[positive regulation of viral budding via host ESCRT complex]
The Human Protein Atlas project is funded
