R-Spondin-1 (RSPO1) Human Active Protein

R-spondin-1: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination. Defects in RSPO1 are the cause of palmoplantar keratoderma with squamous cell carcinoma of skin and sex reversal (PKKSCC). This recessive syndrome is characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Belongs to the R-spondin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Cell development/differentiation; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 4|4 D2.2

Cellular Component: extracellular space; nucleus

Molecular Function: G-protein-coupled receptor binding; heparin binding; protein binding; receptor binding

Biological Process: male meiosis; positive regulation of protein amino acid phosphorylation; positive regulation of Wnt receptor signaling pathway; regulation of gene expression; regulation of receptor internalization; Wnt receptor signaling pathway through beta-catenin