Human Gene GPC3 (ENST00000631057.2) from GENCODE V44
Description: Homo sapiens glypican 3 (GPC3), transcript variant 4, mRNA. (from RefSeq NM_001164619) RefSeq Summary (NM_001164619): Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000631057.2 Gencode Gene: ENSG00000147257.16 Transcript (Including UTRs) Position: hg38 chrX:133,536,124-133,985,449 Size: 449,326 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chrX:133,536,124-133,985,449 Size: 449,326 Coding Exon Count: 7
ID:GPC3_HUMAN DESCRIPTION: RecName: Full=Glypican-3; AltName: Full=GTR2-2; AltName: Full=Intestinal protein OCI-5; AltName: Full=MXR7; Contains: RecName: Full=Secreted glypican-3; Flags: Precursor; FUNCTION: 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. SUBUNIT: Interacts with DPP4. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (By similarity). SUBCELLULAR LOCATION: Secreted glypican-3: Secreted, extracellular space (By similarity). TISSUE SPECIFICITY: Highly expressed in lung, liver and kidney. DISEASE: Defects in GPC3 are the cause of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) [MIM:312870]; also known as Simpson dysmorphia syndrome (SDYS). SGBS is a condition characterized by pre- and postnatal overgrowth (gigantism) with visceral and skeletal anomalies. SIMILARITY: Belongs to the glypican family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GPC3ID156.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPC3";
ModBase Predicted Comparative 3D Structure on P51654
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein P51654 (Reactome details) participates in the following event(s):
R-HSA-1878002 XYLTs transfer Xyl to core protein R-HSA-1889955 B3GATs transfer GlcA to tetrasaccharide linker R-HSA-1889978 B3GALT6 transfers Gal to the tetrasaccharide linker R-HSA-2022919 EXT1:EXT2 transfers GlcNAc to the terminal GlcA residue R-HSA-1889981 B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker R-HSA-2022851 EXT1:EXT2 transfer GlcNAc to the heparan chain R-HSA-2022856 EXT1:EXT2 transfers GlcNAc to heparan R-HSA-2022887 NDST1-4 N-deacetylates GlcNAc residues in heparan R-HSA-2076392 EXT1:EXT2 transfers GlcA to heparan R-HSA-2022860 NDST1-4 can sulfate a glucosamine residue in heparan to form heparan sulfate (HS) R-HSA-2076419 HS6STs sulfate GlcN at C6 in heparan sulfate/heparin R-HSA-2076371 GLCE epimerises more GlcA to IdoA as sulfate content rises R-HSA-2076508 HS2ST1 sulfates IdoA at C2 in heparan sulfate R-HSA-2024100 GLCE epimerises GlcA to IdoA R-HSA-2076383 HS3ST1 sulfates GlcN at C3 in heparan sulfate R-HSA-2076611 HS3STs sulfate GlcN at C3 in heparan sulfate R-HSA-1678694 Heparanase 2 (HPSE2) cleaves heparan sulfate from its proteoglycan (plasma membrane) R-HSA-1667005 Heparanase (HPSE) cleaves heparan sulfate from its proteoglycan (lysosome) R-HSA-2423785 CR:atREs binds apoE and HSPG R-HSA-2429643 NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs R-HSA-8952289 FAM20C phosphorylates FAM20C substrates R-HSA-2404131 LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis R-HSA-3560801 Defective B3GAT3 causes JDSSDHD R-HSA-2022928 HS-GAG biosynthesis R-HSA-3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS R-HSA-3656237 Defective EXT2 causes exostoses 2 R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1 R-HSA-2024096 HS-GAG degradation R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism R-HSA-975634 Retinoid metabolism and transport R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8957275 Post-translational protein phosphorylation R-HSA-1630316 Glycosaminoglycan metabolism R-HSA-3781865 Diseases of glycosylation R-HSA-2187338 Visual phototransduction R-HSA-6806667 Metabolism of fat-soluble vitamins R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification R-HSA-71387 Metabolism of carbohydrates R-HSA-1643685 Disease R-HSA-418594 G alpha (i) signalling events R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism R-HSA-388396 GPCR downstream signalling R-HSA-372790 Signaling by GPCR R-HSA-162582 Signal Transduction
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