Aliases for RSPO1 Gene
External Ids for RSPO1 Gene
Previous GeneCards Identifiers for RSPO1 Gene
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]
GeneCards Summary for RSPO1 Gene
RSPO1 (R-Spondin 1) is a Protein Coding gene. Diseases associated with RSPO1 include palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal and palmoplantar keratoderma - xx sex reversal - predisposition to squamous cell carcinoma. Among its related pathways are Wnt signaling network and Wnt signaling pathway (KEGG). GO annotations related to this gene include receptor binding and heparin binding. An important paralog of this gene is RSPO3.
UniProtKB/Swiss-Prot for RSPO1 Gene
Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling 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.