RSPO1
entrez
284654
canonical
uniprot
Q2MKA7
canonical
ensembl
ENSG00000169218
resolver
ensp
ENSP00000348944
resolver
ensp
ENSP00000383846
resolver
ensp
ENSP00000479832
resolver
ensp
ENSP00000481178
resolver
ensp
ENSP00000536339
resolver
genesymbol
RSPO1
resolver
hgnc
HGNC:21679
resolver
uniprot
A2A420
resolver
uniprot
Q0H8S6
resolver
uniprot
Q14C72
resolver
uniprot
Q5T0F2
resolver
uniprot
Q8N7L5
resolver
uniprot_entry
RSPO1_HUMAN
resolver
uniprot_sec
A2A420
resolver
uniprot_sec
Q0H8S6
resolver
uniprot_sec
Q14C72
resolver
uniprot_sec
Q5T0F2
resolver
uniprot_sec
Q8N7L5
resolver
amino_acid_sequence
MRLGLCVVALVLSWTHLTISSRGIKGKRQRRISAEGSQACAKGCELCSEVNGCLKCSPKLFILLERNDIRQVGVCLPSCPPGYFDARNPDMNKCIKCKIEHCEACFSHNFCTKCKEGLYLHKGRCYPACPEGSSAANGTMECSSPAQCEMSEWSPWGPCSKKQQLCGFRRGSEERTRRVLHAPVGDHAACSDTKETRRCTVRRVPCPEGQKRRKGGQGRRENANRNLARKESKEAGAGSRRRKGQQQQQQQGTVGPLTSAGPA
uniprot
proteins
disease_involvement
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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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}.
uniprot
proteins
mass_dalton
28959
uniprot
proteins
mutagenesis
MUTAGEN 66; /note="R->A: Strongly reduces activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 66; /note="R->W: Reduces activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 70; /note="R->C,E: Strongly reduces activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 71; /note="Q->E: No effect on activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 71; /note="Q->R: Strongly reduces activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 73; /note="G->E,R: Strongly reduces activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23809763"; MUTAGEN 87; /note="R->A: Nearly abolishes activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763"; MUTAGEN 106; /note="F->A: Abolishes activation of Wnt signaling. Abolishes LGR4 binding."; /evidence="ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763"; MUTAGEN 106; /note="F->E: Abolishes activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763"; MUTAGEN 110; /note="F->A: Nearly abolishes activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763"; MUTAGEN 110; /note="F->E: Abolishes activation of Wnt signaling."; /evidence="ECO:0000269|PubMed:23756652, ECO:0000269|PubMed:23809763"; MUTAGEN 122; /note="K->A: Strongly reduces affinity for LGR4."; /evidence="ECO:0000269|PubMed:23756652"; MUTAGEN 124; /note="R->A: Strongly reduces affinity for LGR4."; /evidence="ECO:0000269|PubMed:23756652"; MUTAGEN 137; /note="N->Q: Secretion of RSPO1 is decreased. Increased Wnt/beta-catenin signaling-enhancing effects."; /evidence="ECO:0000269|PubMed:27123103"; MUTAGEN 153; /note="W->A: Secretion of RSPO1 is decreased; when associated with A-156. Decreases activation of Wnt signaling; when associated with A-156."; /evidence="ECO:0000269|PubMed:26764097"; MUTAGEN 156; /note="W->A: Secretion of RSPO1 is decreased; when associated with A-153. Decreases activation of Wnt signaling; when associated with A-153."; /evidence="ECO:0000269|PubMed:26764097
uniprot
proteins
post_translational_modification
PTM: C-, and N-glycosylated. N-glycosylation at Asn-137, negatively influences its secretion and enhancing effect on Wnt/beta-catenin signaling (PubMed:27123103). C-mannosylation at Trp-156 by DPY19L3 is required for its secretion and regulates the enhancing activity of Wnt signaling (PubMed:26764097). {ECO:0000269|PubMed:26764097, ECO:0000269|PubMed:27123103}.
uniprot
proteins
protein_family
R-spondin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16109882
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17041600
uniprot
proteins
pubmed
17804805
uniprot
proteins
pubmed
21727895
uniprot
proteins
pubmed
21909076
uniprot
proteins
pubmed
22575959
uniprot
proteins
pubmed
22615920
uniprot
proteins
pubmed
22815884
uniprot
proteins
pubmed
23756651
uniprot
proteins
pubmed
23756652
uniprot
proteins
pubmed
23809763
uniprot
proteins
pubmed
26764097
uniprot
proteins
pubmed
27123103
uniprot
proteins
pubmed
29769720
uniprot
proteins
sequence_length
263
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:26764097, ECO:0000269|PubMed:27123103}. Nucleus {ECO:0000250|UniProtKB:Q9Z132}. Note=Seems to mainly localize to nucleoli. {ECO:0000250|UniProtKB:Q9Z132}.
uniprot
proteins