ABC54570.1
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NCBI Official Full Name
R-spondin 1
NCBI Summary for RSPO1
This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
UniProt Comments for RSPO1
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: Secreted, signal peptide; Secreted; Cell adhesion; Cell development/differentiation
Chromosomal Location of Human Ortholog: 1p34.3
Cellular Component: extracellular space; extracellular region; nucleus
Molecular Function: heparin binding; protein binding; G-protein-coupled receptor binding; receptor binding
Biological Process: regulation of gene expression; regulation of receptor internalization; Wnt receptor signaling pathway through beta-catenin; positive regulation of protein amino acid phosphorylation; male meiosis; positive regulation of Wnt receptor signaling pathway
Disease: Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal
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