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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).
Disease related genes Human disease related genes
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
8
Cytoband
p22
Chromosome location (bp)
17246931 - 17302427
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
This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]...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.
Q8NEZ2 [Direct mapping] Vacuolar protein sorting-associated protein 37A
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases 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:0000813[ESCRT I complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005768[endosome] GO:0005813[centrosome] GO:0005829[cytosol] 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: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:0043231[intracellular membrane-bounded organelle] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0061024[membrane organization] GO:0072666[establishment of protein localization to vacuole] GO:0090148[membrane fission]
E5RJX6 [Direct mapping] Vacuolar protein sorting-associated protein 37A
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
E5RHB8 [Direct mapping] Vacuolar protein sorting-associated protein 37A
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q8NEZ2 [Direct mapping] Vacuolar protein sorting-associated protein 37A
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases 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:0000813[ESCRT I complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005768[endosome] GO:0005813[centrosome] GO:0005829[cytosol] 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: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:0043231[intracellular membrane-bounded organelle] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0061024[membrane organization] GO:0072666[establishment of protein localization to vacuole] GO:0090148[membrane fission]
H0YBN0 [Direct mapping] Vacuolar protein sorting-associated protein 37A
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
