MGP Database

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MGP001220

UniProt Annotations

Entry Information
Gene Nameglypican 3
Protein Entry
UniProt IDQ53H15
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51654-1; Sequence=Displayed; Name=2; Synonyms=Variant B; IsoId=P51654-2; Sequence=VSP_046117; Name=3; Synonyms=Variant C; IsoId=P51654-3; Sequence=VSP_046703;
DiseaseSimpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870]: A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent. {ECO:0000269|PubMed:10814714}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCell 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. {ECO:0000269|PubMed:17549790}.
SimilarityBelongs to the glypican family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.
Subcellular LocationSecreted glypican-3: Secreted, extracellular space {ECO:0000250}.
SubunitInteracts with DPP4. {ECO:0000269|PubMed:17549790}.
Tissue SpecificityHighly expressed in lung, liver and kidney.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GPC3ID156.html";
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