R-Spondin 1
Recombinant ID:
3524
Gene of Interest
Gene Synonyms:
RSPO1
Protein Names:
R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)
Accession Data
Organism:
Homo sapiens (Human)
Mass (kDa):
28959
Length (aa):
263
Metal Binding:
Pending Verification
Proteomics (Proteome ID):
R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)
Proteomics (Chromosome):
UP000005640
Disease:
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. {ECO:0000269|PubMed:17041600}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Mutagenesis:
MUTAGEN 66 66 R->A: Strongly reduces activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 66 66 R->W: Reduces activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 70 70 R->C,E: Strongly reduces activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 71 71 Q->E: No effect on activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 71 71 Q->R: Strongly reduces activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 73 73 G->E,R: Strongly reduces activation of Wnt signaling. {ECO:0000269|PubMed:23809763}.; MUTAGEN 87 87 R->A: Nearly abolishes activation of Wnt signaling. {ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763}.; MUTAGEN 106 106 F->A: Abolishes activation of Wnt signaling. Abolishes LGR4 binding. {ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763}.; MUTAGEN 106 106 F->E: Abolishes activation of Wnt signaling. {ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763}.; MUTAGEN 110 110 F->A: Nearly abolishes activation of Wnt signaling. {ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763}.; MUTAGEN 110 110 F->E: Abolishes activation of Wnt signaling. {ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763}.; MUTAGEN 122 122 K->A: Strongly reduces affinity for LGR4. {ECO:0000269|PubMed:23756652}.; MUTAGEN 124 124 R->A: Strongly reduces affinity for LGR4. {ECO:0000269|PubMed:23756652}.
Sequence:
MRLGLCVVALVLSWTHLTISSRGIKGKRQRRISAEGSQACAKGCELCSEVNGCLKCSPKLFILLERNDIRQVGVCLPSCPPGYFDARNPDMNKCIKCKIEHCEACFSHNFCTKCKEGLYLHKGRCYPACPEGSSAANGTMECSSPAQCEMSEWSPWGPCSKKQQLCGFRRGSEERTRRVLHAPVGDHAACSDTKETRRCTVRRVPCPEGQKRRKGGQGRRENANRNLARKESKEAGAGSRRRKGQQQQQQQGTVGPLTSAGPA
Function [CC]:
Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). 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. Regulates Wnt signaling by antagonizing DKK1/KREM1-mediated internalization of LRP6 through an interaction with KREM1 (PubMed:17804805). {ECO:0000269|PubMed:16109882, ECO:0000269|PubMed:17804805, ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076, ECO:0000269|PubMed:22575959, ECO:0000269|PubMed:22615920, ECO:0000269|PubMed:22815884, ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763, ECO:0000269|PubMed:29769720}.
Analysis Summary:
Alternative sequence (2); Beta strand (11); Chain (1); Disulfide bond (11); Domain (1); Glycosylation (1); Mutagenesis (13); Repeat (2); Sequence conflict (1); Signal peptide (1); Turn (2); Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis suggesting possible therapeutic application in gastrointestinal diseases.; 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:0000269|PubMed:17041600}.
Reagent Data
Name:
R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)
Subcategory:
Recombinant
Source:
HEK293
Species:
Format:
Lyophilized
pH:
7.4-7.5
Formulation:
Sterile-filtered colorless solution
Formulation Concentration:
1mg/ml
Buffer Volume:
Standard
Buffer Solution:
PBS
Metal Chelating Agents
Determined:
SDS-PAGE
Purity:
> 98%
Validated:
RP-HPLC
Sample Handling
Storage:
-20°C
Stability:
This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.
Preparation:
Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.
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