Homo sapiens Gene: GPC3
Summary
InnateDB Gene IDBG-86754.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GPC3
Gene Name glypican 3
Synonyms DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1
Species Homo sapiens
Ensembl Gene ENSG00000147257
Encoded Proteins
glypican 3
glypican 3
glypican 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:133535745-133985895
Strand Reverse strand
Band q26.2
Transcripts
ENST00000370818 ENSP00000359854
ENST00000394299 ENSP00000377836
ENST00000406757 ENSP00000385307
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0043395 heparan sulfate proteoglycan binding
GO:0060422 peptidyl-dipeptidase inhibitor activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006027 glycosaminoglycan catabolic process
GO:0007603 phototransduction, visible light
GO:0008285 negative regulation of cell proliferation
GO:0009653 anatomical structure morphogenesis
GO:0009887 organ morphogenesis
GO:0009948 anterior/posterior axis specification
GO:0010171 body morphogenesis
GO:0010466 negative regulation of peptidase activity
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030282 bone mineralization
GO:0030316 osteoclast differentiation
GO:0030324 lung development
GO:0030513 positive regulation of BMP signaling pathway
GO:0035116 embryonic hindlimb morphogenesis
GO:0040008 regulation of growth
GO:0044281 small molecule metabolic process
GO:0045732 positive regulation of protein catabolic process
GO:0045807 positive regulation of endocytosis
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045926 negative regulation of growth
GO:0046326 positive regulation of glucose import
GO:0050680 negative regulation of epithelial cell proliferation
GO:0060976 coronary vasculature development
GO:0072111 cell proliferation involved in kidney development
GO:0072138 mesenchymal cell proliferation involved in ureteric bud development
GO:0072180 mesonephric duct morphogenesis
GO:0072203 cell proliferation involved in metanephros development
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:2000096 positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0043202 lysosomal lumen
GO:0046658 anchored component of plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Wnt pathway
REACTOME
Retinoid metabolism and transport pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
HS-GAG degradation pathway
HS-GAG biosynthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
Signal Transduction pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
Diseases associated with visual transduction pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Visual phototransduction pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
INOH
PID NCI
Glypican pathway
Glypican 3 network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.626762 Hs.644108
RefSeq NM_001164617 NM_001164618 NM_001164619 NM_004484
HUGO
OMIM
CCDS CCDS14638 CCDS55496
HPRD 02074
IMGT
EMBL
GenPept
RNA Seq Atlas