RSPO1

R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)

Homo sapiens (Human)

28959

263

Pending Verification

R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)

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.

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}.

MRLGLCVVALVLSWTHLTISSRGIKGKRQRRISAEGSQACAKGCELCSEVNGCLKCSPKLFILLERNDIRQVGVCLPSCPPGYFDARNPDMNKCIKCKIEHCEACFSHNFCTKCKEGLYLHKGRCYPACPEGSSAANGTMECSSPAQCEMSEWSPWGPCSKKQQLCGFRRGSEERTRRVLHAPVGDHAACSDTKETRRCTVRRVPCPEGQKRRKGGQGRRENANRNLARKESKEAGAGSRRRKGQQQQQQQGTVGPLTSAGPA

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}.

Alternative sequence (2); Chain (2); Disulfide bond (7); Glycosylation (5); Lipidation (1); Modified residue (2); Mutagenesis (6); Natural variant (2); Propeptide (1); Signal peptide (1); Site (1); Used as a marker for hepatocellular carcinoma (HCC) as it is expressed in HCC but is not detectable in hepatocytes from normal or benign liver diseases (PubMed:12851874). When attached to the cell surface, stimulates the growth of HCC cells by increasing canonical Wnt signaling (PubMed:16024626). Cleavage is not required for stimulation of Wnt signaling or HCC growth (PubMed:16227623). {ECO:0000269|PubMed:12851874, ECO:0000269|PubMed:16024626, ECO:0000269|PubMed:16227623}.; Highly expressed in lung, liver and kidney. {ECO:0000269|PubMed:8589713}.

R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)

Recombinant

HEK293

Lyophilized

7.4-7.5

Sterile-filtered colorless solution

1mg/ml

Standard

PBS

SDS-PAGE

> 98%

RP-HPLC

-20°C

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.

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.