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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
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
8
Cytoband
q24.3
Chromosome location (bp)
143790920 - 143815773
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Scaffold protein involved in different aspects of polarized cell differentiation regulating epithelial and neuronal morphogenesis and T-cell polarization 1,2,3,4,5,6,7. Via its interaction with CRTAM, required for the late phase polarization of a subset of CD4+ T-cells, which in turn regulates TCR-mediated proliferation and IFNG and IL22 production (By similarity). Most probably functions in the establishment of apico-basal cell polarity 8,9. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium 10,11. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling 12,13. May play a role in exocytosis and in the targeting of synaptic vesicles to synapses 14. Functions as an activator of Rac GTPase activity....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 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.
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)
SCAMPI predicted membrane proteins 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:0001768[establishment of T cell polarity] GO:0001772[immunological synapse] GO:0001843[neural tube closure] GO:0001921[positive regulation of receptor recycling] GO:0002093[auditory receptor cell morphogenesis] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0008104[protein localization] GO:0008283[cell population proliferation] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016080[synaptic vesicle targeting] GO:0016323[basolateral plasma membrane] GO:0016331[morphogenesis of embryonic epithelium] GO:0016477[cell migration] GO:0021747[cochlear nucleus development] GO:0030027[lamellipodium] GO:0030054[cell junction] GO:0030154[cell differentiation] GO:0030859[polarized epithelial cell differentiation] GO:0031252[cell leading edge] GO:0032729[positive regulation of interferon-gamma production] GO:0034750[Scrib-APC-beta-catenin complex] GO:0035089[establishment of apical/basal cell polarity] GO:0035748[myelin sheath abaxonal region] GO:0036342[post-anal tail morphogenesis] GO:0042060[wound healing] GO:0042734[presynaptic membrane] GO:0042995[cell projection] GO:0043065[positive regulation of apoptotic process] GO:0043113[receptor clustering] GO:0043615[astrocyte cell migration] GO:0044291[cell-cell contact zone] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0045296[cadherin binding] GO:0045930[negative regulation of mitotic cell cycle] GO:0046007[negative regulation of activated T cell proliferation] GO:0048488[synaptic vesicle endocytosis] GO:0050918[positive chemotaxis] GO:0060088[auditory receptor cell stereocilium organization] GO:0060122[inner ear receptor cell stereocilium organization] GO:0060561[apoptotic process involved in morphogenesis] GO:0060603[mammary gland duct morphogenesis] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0071896[protein localization to adherens junction] GO:0090630[activation of GTPase activity] GO:0097120[receptor localization to synapse] GO:0098609[cell-cell adhesion] GO:0098793[presynapse] GO:0098794[postsynapse] GO:0098887[neurotransmitter receptor transport, endosome to postsynaptic membrane] GO:0098968[neurotransmitter receptor transport postsynaptic membrane to endosome] GO:0098978[glutamatergic synapse] GO:0099003[vesicle-mediated transport in synapse] GO:0099147[extrinsic component of postsynaptic density membrane] GO:0099149[regulation of postsynaptic neurotransmitter receptor internalization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
