InnateDB Protein
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IDBP-96464.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RSPO1
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Protein Name
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R-spondin 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000348944
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InnateDB Gene
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IDBG-96460 (RSPO1)
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Protein Structure
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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}.
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Subcellular Localization |
Secreted {ECO:0000250}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0001934
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positive regulation of protein phosphorylation
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GO:0002090
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regulation of receptor internalization
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GO:0007140
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male meiosis
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GO:0010468
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regulation of gene expression
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GO:0030177
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positive regulation of Wnt signaling pathway
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GO:0060070
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canonical Wnt signaling pathway
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GO:0090263
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positive regulation of canonical Wnt signaling pathway
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GO:2000052
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positive regulation of non-canonical Wnt signaling pathway
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GO:2000254
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regulation of male germ cell proliferation
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Cellular Component |
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PDB ID |
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InterPro |
IPR000884
Thrombospondin, type 1 repeat
IPR006212
Furin-like repeat
IPR009030
Insulin-like growth factor binding protein, N-terminal
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PFAM |
PF00090
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PRINTS |
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PIRSF |
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SMART |
SM00209
SM00261
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TIGRFAMs |
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Modification |
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SwissProt |
Q2MKA7
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PhosphoSite |
PhosphoSite-Q2MKA7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
284654
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UniGene |
Hs.135015
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RefSeq |
NP_001229837
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HUGO |
HGNC:21679
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OMIM |
609595
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CCDS |
CCDS41304
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HPRD |
08288
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IMGT |
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EMBL |
AK098225
AL513220
BC114966
DQ165084
DQ165085
DQ318235
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GenPept |
AAI14967
ABA54597
ABA54598
ABC54570
BAC05263
CAI15785
CAM12882
CAM12883
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