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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.
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
10
Cytoband
q22.3
Chromosome location (bp)
77790791 - 77926755
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 a regulator of the Hippo signaling pathway 1,2. Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 3. Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion 4. Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0001837[epithelial to mesenchymal transition] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005912[adherens junction] GO:0007165[signal transduction] GO:0008013[beta-catenin binding] GO:0008092[cytoskeletal protein binding] GO:0008285[negative regulation of cell population proliferation] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0030011[maintenance of cell polarity] GO:0030054[cell junction] GO:0030159[signaling receptor complex adaptor activity] GO:0030336[negative regulation of cell migration] GO:0030859[polarized epithelial cell differentiation] GO:0030901[midbrain development] GO:0035331[negative regulation of hippo signaling] GO:0035332[positive regulation of hippo signaling] GO:0035556[intracellular signal transduction] GO:0036064[ciliary basal body] GO:0042130[negative regulation of T cell proliferation] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0045176[apical protein localization] GO:0045186[zonula adherens assembly] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0045880[positive regulation of smoothened signaling pathway] GO:0051965[positive regulation of synapse assembly] GO:0060441[epithelial tube branching involved in lung morphogenesis] GO:0060563[neuroepithelial cell differentiation] GO:0060999[positive regulation of dendritic spine development] GO:0065003[protein-containing complex assembly] GO:0070161[anchoring junction] GO:0071896[protein localization to adherens junction] GO:0072205[metanephric collecting duct development] GO:0098609[cell-cell adhesion] GO:0098978[glutamatergic synapse] GO:0099173[postsynapse organization]
The Human Protein Atlas project is funded
