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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).
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
7
Cytoband
q11.21
Chromosome location (bp)
66682164 - 66811464
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Endocytosis, Protein transport, Transport, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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 Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001933[negative regulation of protein phosphorylation] GO:0002686[negative regulation of leukocyte migration] GO:0003677[DNA binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006468[protein phosphorylation] GO:0006612[protein targeting to membrane] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0007265[Ras protein signal transduction] GO:0008270[zinc ion binding] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0016567[protein ubiquitination] GO:0030139[endocytic vesicle] GO:0030425[dendrite] GO:0031267[small GTPase binding] GO:0031901[early endosome membrane] GO:0031982[vesicle] GO:0032715[negative regulation of interleukin-6 production] GO:0032764[negative regulation of mast cell cytokine production] GO:0033004[negative regulation of mast cell activation] GO:0038109[Kit signaling pathway] GO:0043303[mast cell degranulation] GO:0043305[negative regulation of mast cell degranulation] GO:0046580[negative regulation of Ras protein signal transduction] GO:0046872[metal ion binding] GO:0048261[negative regulation of receptor-mediated endocytosis] GO:0050728[negative regulation of inflammatory response] GO:0051649[establishment of localization in cell] GO:0055037[recycling endosome] GO:0060368[regulation of Fc receptor mediated stimulatory signaling pathway] GO:0061630[ubiquitin protein ligase activity] GO:0097531[mast cell migration] GO:0098935[dendritic transport] GO:1900235[negative regulation of Kit signaling pathway]
Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
The Human Protein Atlas project is funded
