GPC3: Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition. Defects in GPC3 are the cause of Simpson-Golabi-Behmel syndrome type 1 (SGBS1); also known as Simpson dysmorphia syndrome (SDYS). SGBS is a condition characterized by pre- and postnatal overgrowth (gigantism) with visceral and skeletal anomalies. Belongs to the glypican family.
Protein type: Motility/polarity/chemotaxis; Membrane protein, GPI anchor
Chromosomal Location of Human Ortholog: Xq26.1
Cellular Component: lysosomal lumen; proteinaceous extracellular matrix; extracellular space; anchored to plasma membrane; Golgi lumen; integral to plasma membrane; plasma membrane
Molecular Function: heparan sulfate proteoglycan binding; protein binding
Biological Process: phototransduction, visible light; glycosaminoglycan metabolic process; negative regulation of peptidase activity; positive regulation of endocytosis; pathogenesis; osteoclast differentiation; embryonic hindlimb morphogenesis; bone mineralization; body morphogenesis; positive regulation of glucose import; glycosaminoglycan catabolic process; positive regulation of smoothened signaling pathway; retinoid metabolic process; positive regulation of BMP signaling pathway; negative regulation of growth; negative regulation of epithelial cell proliferation; anatomical structure morphogenesis; chondroitin sulfate metabolic process; glycosaminoglycan biosynthetic process; ureteric bud branching; negative regulation of smoothened signaling pathway; carbohydrate metabolic process; positive regulation of protein catabolic process; anterior/posterior axis specification; lung development
Disease: Simpson-golabi-behmel Syndrome, Type 1; Wilms Tumor 1
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