4kt1
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4kt1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kt1 OCA], [https://pdbe.org/4kt1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4kt1 RCSB], [https://www.ebi.ac.uk/pdbsum/4kt1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4kt1 ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4kt1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4kt1 OCA], [https://pdbe.org/4kt1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4kt1 RCSB], [https://www.ebi.ac.uk/pdbsum/4kt1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4kt1 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/RSPO1_HUMAN RSPO1_HUMAN] Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma. Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal (PKKSCC) [MIM:[https://omim.org/entry/610644 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. | ||
== Function == | == Function == | ||
| - | [https://www.uniprot.org/uniprot/ | + | [https://www.uniprot.org/uniprot/RSPO1_HUMAN RSPO1_HUMAN] Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably 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.<ref>PMID:16109882</ref> <ref>PMID:22575959</ref> |
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
Complex of R-spondin 1 with LGR4 extracellular domain
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