Entity Details

Primary name RSPO1
Entity type gene
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Details

PrimaryID284654
RefseqGeneNG_012239
SymbolRSPO1
NameR-spondin 1
Chromosome1
Location1p34.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRSPO1_HUMAN

GO terms

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GOName
GO:0001664 G protein-coupled receptor binding
GO:0001934 positive regulation of protein phosphorylation
GO:0002090 regulation of receptor internalization
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0008201 heparin binding
GO:0016055 Wnt signaling pathway
GO:0030177 positive regulation of Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway

Diseases

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Disease IDSourceNameDescription
610644 OMIMKeratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal (PKKSCC)A recessive syndrome characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. The disease is caused by variants affecting the gene represented in this entry.