| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Basement membrane-specific heparan sulfate proteoglycan core protein
|
| http://www.biopax.org/relea... |
PGBM_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Endorepellin,
HSPG,
LG3 peptide,
PLC,
Perlecan
|
| http://www.biopax.org/relea... |
FUNCTION: Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. FUNCTION: Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6. FUNCTION: The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity. SUBUNIT: Purified perlecan has a strong tendency to aggregate in dimers or stellate structures. It interacts with other basement membrane components such as laminin, prolargin and collagen type IV. Interacts with COL13A1, FGFBP1 and VWA1. Interacts (via C- terminus) with ECM1 (via C-terminus). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. TISSUE SPECIFICITY: Found in the basement membranes. PTM: Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide. PTM: N- and O-glycosylated; contains three heparan sulfate chains. The LG3 peptide contains at least three and up to five potential O-glycosylation sites but no N-glycosylation. DISEASE: Defects in HSPG2 are the cause of Schwartz-Jampel syndrome (SJS1) [MIM:255800]; a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. DISEASE: Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) [MIM:224410]. The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. MISCELLANEOUS: The LG3 peptide has been found in the urine of patients with end-stage renal disease and in the amniotic fluid of pregnant women with premature rupture of fetal membranes. SIMILARITY: Contains 4 EGF-like domains. SIMILARITY: Contains 22 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 11 laminin EGF-like domains. SIMILARITY: Contains 3 laminin G-like domains. SIMILARITY: Contains 3 laminin IV type A domains. SIMILARITY: Contains 4 LDL-receptor class A domains. SIMILARITY: Contains 1 SEA domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/HSPG2ID40890ch1p36.html"; WEB RESOURCE: Name=Wikipedia; Note=Perlecan entry; URL="http://en.wikipedia.org/wiki/Perlecan"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPG2"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |