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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 Plasma proteins Potential drug targets 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
16
Cytoband
q11.2
Chromosome location (bp)
46656132 - 46689518
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway 1. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) 2,3,4. Required for endosomal localization of WASHC2C 5,6. Mediates the association of the CSC with the WASH complex via WASHC2 7,8,9. Required for the endosomal localization of TBC1D5 10....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction, Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]...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.
Q96QK1 [Direct mapping] Vacuolar protein sorting-associated protein 35
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Transporters MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative 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:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005769[early endosome] GO:0005770[late endosome] GO:0005829[cytosol] GO:0006886[intracellular protein transport] GO:0007040[lysosome organization] GO:0010008[endosome membrane] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010821[regulation of mitochondrion organization] GO:0014069[postsynaptic density] GO:0015031[protein transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016241[regulation of macroautophagy] GO:0030904[retromer complex] GO:0030906[retromer, cargo-selective complex] GO:0031647[regulation of protein stability] GO:0031648[protein destabilization] GO:0031748[D1 dopamine receptor binding] GO:0032456[endocytic recycling] GO:0032463[negative regulation of protein homooligomerization] GO:0033365[protein localization to organelle] GO:0036010[protein localization to endosome] GO:0042147[retrograde transport, endosome to Golgi] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045056[transcytosis] GO:0045202[synapse] GO:0045732[positive regulation of protein catabolic process] GO:0048471[perinuclear region of cytoplasm] GO:0050728[negative regulation of inflammatory response] GO:0050804[modulation of chemical synaptic transmission] GO:0050882[voluntary musculoskeletal movement] GO:0051246[regulation of protein metabolic process] GO:0060161[positive regulation of dopamine receptor signaling pathway] GO:0060548[negative regulation of cell death] GO:0061357[positive regulation of Wnt protein secretion] GO:0070062[extracellular exosome] GO:0090128[regulation of synapse maturation] GO:0090141[positive regulation of mitochondrial fission] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090326[positive regulation of locomotion involved in locomotory behavior] GO:0097422[tubular endosome] GO:0098691[dopaminergic synapse] GO:0098793[presynapse] GO:0098794[postsynapse] GO:0098887[neurotransmitter receptor transport, endosome to postsynaptic membrane] GO:0098978[glutamatergic synapse] GO:0099003[vesicle-mediated transport in synapse] GO:0099073[mitochondrion-derived vesicle] GO:0099074[mitochondrion to lysosome transport] GO:0099639[neurotransmitter receptor transport, endosome to plasma membrane] GO:0110165[cellular anatomical entity] GO:0150052[regulation of postsynapse assembly] GO:1901215[negative regulation of neuron death] GO:1902823[negative regulation of late endosome to lysosome transport] GO:1902950[regulation of dendritic spine maintenance] GO:1903181[positive regulation of dopamine biosynthetic process] GO:1903828[negative regulation of protein localization] GO:1905166[negative regulation of lysosomal protein catabolic process] GO:1905606[regulation of presynapse assembly] GO:2000331[regulation of terminal button organization]
A0A1W2PP10 [Direct mapping] Vacuolar protein sorting-associated protein 35
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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 Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
