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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.
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
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
12
Cytoband
q23.3
Chromosome location (bp)
105173297 - 105236203
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism 1,2,3. Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex 4. Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus 5. Plays a role in cell metabolism by regulating adiponecting ans insulin signaling pathways and adaptative thermogenesis (By similarity) 6. In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negatively regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 7. Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (By similarity) 8. Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex 9. May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]...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.
Q8NEU8 [Direct mapping] DCC-interacting protein 13-beta
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0001726[ruffle] GO:0001786[phosphatidylserine binding] GO:0002024[diet induced thermogenesis] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0006606[protein import into nucleus] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009631[cold acclimation] GO:0010008[endosome membrane] GO:0010762[regulation of fibroblast migration] GO:0016020[membrane] GO:0023052[signaling] GO:0030670[phagocytic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031982[vesicle] GO:0032009[early phagosome] GO:0032587[ruffle membrane] GO:0033211[adiponectin-activated signaling pathway] GO:0034143[regulation of toll-like receptor 4 signaling pathway] GO:0035091[phosphatidylinositol binding] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0036186[early phagosome membrane] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0044354[macropinosome] GO:0044877[protein-containing complex binding] GO:0045088[regulation of innate immune response] GO:0045335[phagocytic vesicle] GO:0046322[negative regulation of fatty acid oxidation] GO:0046325[negative regulation of glucose import] GO:0050768[negative regulation of neurogenesis] GO:0051289[protein homotetramerization] GO:0060100[positive regulation of phagocytosis, engulfment] GO:0070062[extracellular exosome] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900077[negative regulation of cellular response to insulin stimulus] GO:1905303[positive regulation of macropinocytosis] GO:1905451[positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000178[negative regulation of neural precursor cell proliferation]
Q8NEU8 [Direct mapping] DCC-interacting protein 13-beta
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726[ruffle] GO:0001786[phosphatidylserine binding] GO:0002024[diet induced thermogenesis] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0006606[protein import into nucleus] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009631[cold acclimation] GO:0010008[endosome membrane] GO:0010762[regulation of fibroblast migration] GO:0016020[membrane] GO:0023052[signaling] GO:0030670[phagocytic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031982[vesicle] GO:0032009[early phagosome] GO:0032587[ruffle membrane] GO:0033211[adiponectin-activated signaling pathway] GO:0034143[regulation of toll-like receptor 4 signaling pathway] GO:0035091[phosphatidylinositol binding] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0036186[early phagosome membrane] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0044354[macropinosome] GO:0044877[protein-containing complex binding] GO:0045088[regulation of innate immune response] GO:0045335[phagocytic vesicle] GO:0046322[negative regulation of fatty acid oxidation] GO:0046325[negative regulation of glucose import] GO:0050768[negative regulation of neurogenesis] GO:0051289[protein homotetramerization] GO:0060100[positive regulation of phagocytosis, engulfment] GO:0070062[extracellular exosome] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900077[negative regulation of cellular response to insulin stimulus] GO:1905303[positive regulation of macropinocytosis] GO:1905451[positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000178[negative regulation of neural precursor cell proliferation]
Q8NEU8 [Direct mapping] DCC-interacting protein 13-beta
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726[ruffle] GO:0001786[phosphatidylserine binding] GO:0002024[diet induced thermogenesis] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0006606[protein import into nucleus] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009631[cold acclimation] GO:0010008[endosome membrane] GO:0010762[regulation of fibroblast migration] GO:0016020[membrane] GO:0023052[signaling] GO:0030670[phagocytic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0031982[vesicle] GO:0032009[early phagosome] GO:0032587[ruffle membrane] GO:0033211[adiponectin-activated signaling pathway] GO:0034143[regulation of toll-like receptor 4 signaling pathway] GO:0035091[phosphatidylinositol binding] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0036186[early phagosome membrane] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0044354[macropinosome] GO:0044877[protein-containing complex binding] GO:0045088[regulation of innate immune response] GO:0045335[phagocytic vesicle] GO:0046322[negative regulation of fatty acid oxidation] GO:0046325[negative regulation of glucose import] GO:0050768[negative regulation of neurogenesis] GO:0051289[protein homotetramerization] GO:0060100[positive regulation of phagocytosis, engulfment] GO:0070062[extracellular exosome] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900077[negative regulation of cellular response to insulin stimulus] GO:1905303[positive regulation of macropinocytosis] GO:1905451[positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000178[negative regulation of neural precursor cell proliferation]
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