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Most carcinoids, liver, prostate and renal cancers along with few cases of melanomas, endometrial, colorectal, lung and thyroid cancers showed moderate cytoplasmic staining. Few cases of gliomas, cervix, ovarian, skin and testis cancers displayed weak nuclear /or nucleolar positivity. Remaining cancers were mainly negative.
This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001756 [somitogenesis] GO:0002315 [marginal zone B cell differentiation] GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007219 [Notch signaling pathway] GO:0008152 [metabolic process] GO:0008593 [regulation of Notch signaling pathway] GO:0009887 [organ morphogenesis] GO:0014807 [regulation of somitogenesis] GO:0016020 [membrane] GO:0016757 [transferase activity, transferring glycosyl groups] GO:0030173 [integral component of Golgi membrane] GO:0030217 [T cell differentiation] GO:0033829 [O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872 [metal ion binding] GO:1902367 [negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561 [extracellular vesicle]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001756 [somitogenesis] GO:0002315 [marginal zone B cell differentiation] GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007219 [Notch signaling pathway] GO:0008152 [metabolic process] GO:0008593 [regulation of Notch signaling pathway] GO:0009887 [organ morphogenesis] GO:0014807 [regulation of somitogenesis] GO:0016020 [membrane] GO:0016757 [transferase activity, transferring glycosyl groups] GO:0030173 [integral component of Golgi membrane] GO:0030217 [T cell differentiation] GO:0033829 [O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872 [metal ion binding] GO:1902367 [negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561 [extracellular vesicle]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001756 [somitogenesis] GO:0002315 [marginal zone B cell differentiation] GO:0003674 [molecular_function] GO:0005576 [extracellular region] GO:0007219 [Notch signaling pathway] GO:0008152 [metabolic process] GO:0008593 [regulation of Notch signaling pathway] GO:0009887 [organ morphogenesis] GO:0014807 [regulation of somitogenesis] GO:0016020 [membrane] GO:0016757 [transferase activity, transferring glycosyl groups] GO:0030173 [integral component of Golgi membrane] GO:0030217 [T cell differentiation] GO:0033829 [O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872 [metal ion binding] GO:1902367 [negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561 [extracellular vesicle]
