InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RSPO1

Summary

InnateDB Protein

IDBP-226698.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RSPO1

Protein Name

R-spondin 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000383846

InnateDB Gene

IDBG-96460 (RSPO1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:16109882, ECO:0000269PubMed:21727895, ECO:0000269PubMed:21909076, ECO:0000269PubMed:22575959, ECO:0000269PubMed:22615920, ECO:0000269PubMed:22815884, ECO:0000269PubMed:23756652, ECO:0000269PubMed:23809763}.

Subcellular Localization

Secreted {ECO:0000250}.

Disease Associations

Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal (PKKSCC) [MIM:610644]: A recessive syndrome characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundantly expressed in adrenal glands, ovary, testis, thyroid and trachea but not in bone marrow, spinal cord, stomach, leukocytes colon, small intestine, prostate, thymus and spleen. {ECO:0000269PubMed:17041600}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001664	G-protein coupled receptor binding
GO:0005102	receptor binding
GO:0005515	protein binding

Biological Process

GO:0001934	positive regulation of protein phosphorylation
GO:0002090	regulation of receptor internalization
GO:0030177	positive regulation of Wnt signaling pathway
GO:0090263	positive regulation of canonical Wnt signaling pathway