This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a SLCterminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Function:
Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway, possibly via a direct interaction with Wnt proteins, and in a Wnt-independent beta catenin pathway through a receptor signaling pathway that may not use frizzled/LRP receptors.
Subcellular Location:
Secreted.
Post-translational modifications:
Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven.
DISEASE:
Defects in RSPO4 are the cause of anonychia congenita (ANONC) [MIM:201360]. A rare condition characterized by the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.
Similarity:
Belongs to the R-spondin family.
Contains 1 FU (furin-like) repeat.
Contains 1 TSP type-1 domain.
SWISS:
Q2I0M5
Gene ID:
343637
Database links:
Entrez Gene: 343637 Human
Entrez Gene: 228770 Mouse
Entrez Gene: 499918 Rat
Omim: 610573 Human
SwissProt: Q2I0M5 Human
SwissProt: Q8BJ73 Mouse
Unigene: 444196 Human
Unigene: 159868 Mouse
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