Gene: RSPO1

Alternate names for this Gene: CRISTIN3|RSPO

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: R-spondin 1

Type of Gene: protein-coding

rs12039431 in RSPO1 gene and Epithelial ovarian cancer PMID 25581431 2015 Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

rs4074961 in RSPO1 gene and Ocular axial length PMID 24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

rs58722170 in RSPO1 gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs4074961 in RSPO1 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs58722170 in RSPO1 gene and ovarian neoplasm PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.