We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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 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
6
Cytoband
q21
Chromosome location (bp)
108211222 - 108261246
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Can also bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway 1,2,3. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes 4. Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the transferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). In the case of Salmonella enterica infection plays arole in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs 5....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Protein transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]...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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0008289[lipid binding] GO:0009617[response to bacterium] GO:0010008[endosome membrane] GO:0010314[phosphatidylinositol-5-phosphate binding] GO:0010324[membrane invagination] GO:0010976[positive regulation of neuron projection development] GO:0015031[protein transport] GO:0019903[protein phosphatase binding] GO:0022615[protein to membrane docking] GO:0030111[regulation of Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030904[retromer complex] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032009[early phagosome] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032456[endocytic recycling] GO:0034499[late endosome to Golgi transport] GO:0035091[phosphatidylinositol binding] GO:0042177[negative regulation of protein catabolic process] GO:0045335[phagocytic vesicle] GO:0046597[negative regulation of viral entry into host cell] GO:0050765[negative regulation of phagocytosis] GO:0051224[negative regulation of protein transport] GO:0070062[extracellular exosome] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070676[intralumenal vesicle formation] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:1901981[phosphatidylinositol phosphate binding] GO:1905394[retromer complex binding] GO:2000642[negative regulation of early endosome to late endosome transport]
Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0008289[lipid binding] GO:0009617[response to bacterium] GO:0010008[endosome membrane] GO:0010314[phosphatidylinositol-5-phosphate binding] GO:0010324[membrane invagination] GO:0010976[positive regulation of neuron projection development] GO:0015031[protein transport] GO:0019903[protein phosphatase binding] GO:0022615[protein to membrane docking] GO:0030111[regulation of Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030904[retromer complex] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032009[early phagosome] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032456[endocytic recycling] GO:0034499[late endosome to Golgi transport] GO:0035091[phosphatidylinositol binding] GO:0042177[negative regulation of protein catabolic process] GO:0045335[phagocytic vesicle] GO:0046597[negative regulation of viral entry into host cell] GO:0050765[negative regulation of phagocytosis] GO:0051224[negative regulation of protein transport] GO:0070062[extracellular exosome] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070676[intralumenal vesicle formation] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:1901981[phosphatidylinositol phosphate binding] GO:1905394[retromer complex binding] GO:2000642[negative regulation of early endosome to late endosome transport]
Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0008289[lipid binding] GO:0009617[response to bacterium] GO:0010008[endosome membrane] GO:0010314[phosphatidylinositol-5-phosphate binding] GO:0010324[membrane invagination] GO:0010976[positive regulation of neuron projection development] GO:0015031[protein transport] GO:0019903[protein phosphatase binding] GO:0022615[protein to membrane docking] GO:0030111[regulation of Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030904[retromer complex] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032009[early phagosome] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032456[endocytic recycling] GO:0034499[late endosome to Golgi transport] GO:0035091[phosphatidylinositol binding] GO:0042177[negative regulation of protein catabolic process] GO:0045335[phagocytic vesicle] GO:0046597[negative regulation of viral entry into host cell] GO:0050765[negative regulation of phagocytosis] GO:0051224[negative regulation of protein transport] GO:0070062[extracellular exosome] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070676[intralumenal vesicle formation] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:1901981[phosphatidylinositol phosphate binding] GO:1905394[retromer complex binding] GO:2000642[negative regulation of early endosome to late endosome transport]
The Human Protein Atlas project is funded
