Recombinant Human Basement membrane-specific heparan sulfate proteoglycan core protein (HSPG2), partial

Function

Has anti-angiogenic properties that require binding of calcium ions for full activity

Subcellular Location

Secreted, extracellular space, extracellular matrix, basement membrane; Secreted

Disease Association

Schwartz-Jampel syndrome (SJS1) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Dyssegmental dysplasia Silverman-Handmaker type (DDSH) : 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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Detected in cerebrospinal fluid, fibroblasts and urine (at protein level)

Subunit

Has a strong tendency to aggregate in dimers or stellate structures. Interacts with other basement membrane components such as laminin, prolargin and collagen type IV. Interacts with COL13A1 (PubMed:11956183). Interacts with FGFBP1 (PubMed:11148217). Interacts with VWA1 (By similarity). Interacts (via C-terminus) with ECM1 (via C-terminus) (PubMed:12604605). Interacts with SVEP1 (By similarity). Interacts (via C-terminus) with alpha-dystroglycan; the interaction is required for acetylcholinesterase (AChE) localization at the neuromuscular junctions (NMJ) (By similarity). Interacts with the acetylcholinesterase collagenic tail peptide (COLQ) (PubMed:14702351)

• Murdoch A.D. et al. Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. — J. Biol. Chem. (1992)
• Kallunki P. et al. Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. — J. Cell Biol. (1992)
• Gregory S.G. et al. The DNA sequence and biological annotation of human chromosome 1. — Nature (2006)
• Cohen I.R. et al. Structural characterization of the complete human perlecan gene and its promoter. — Proc. Natl. Acad. Sci. U.S.A. (1993)
• Nicole S. et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). — Nat. Genet. (2000)
• Kallunki P. et al. Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1-->p35 and identification of a BamHI restriction fragment length polymorphism. — Genomics (1991)
• Dodge G.R. et al. Heparan sulfate proteoglycan of human colon: partial molecular cloning, cellular expression, and mapping of the gene (HSPG2) to the short arm of human chromosome 1. — Genomics (1991)
• Heremans A. et al. Matrix-associated heparan sulfate proteoglycan: core protein-specific monoclonal antibodies decorate the pericellular matrix of connective tissue cells and the stromal side of basement membranes. — J. Cell Biol. (1989)