background:
RSPO1 is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich, furin-like domains and one thrombospondin type 1 domain. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects.
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. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination.
Subunit:
Interacts with the extracellular domain of FZD8 and LRP6. It however does not form a ternary complex with FZD8 and LRP6. Interacts with WNT1. Binds heparin (By similarity).
Subcellular Location:
Secreted.
Tissue Specificity:
Abundantly expressed in adrenal glands, ovary, testis, thyroid and trachea but not in bone marrow, spinal cord, stomach, leukocytes colon, small intestine, prostate, thymus and spleen.
DISEASE:
Defects in RSPO1 are the cause of palmoplantar keratoderma with squamous cell carcinoma of skin and sex reversal (PKKSCC) [MIM:610644]. This recessive syndrome is characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.
Similarity:
Belongs to the R-spondin family.
Contains 2 FU (furin-like) repeats.
Contains 1 TSP type-1 domain.
Database links:
Entrez Gene: 284654 Human
Entrez Gene: 192199 Mouse
Entrez Gene: 313589 Rat
Omim: 609595 Human
SwissProt: Q2MKA7 Human
SwissProt: Q9Z132 Mouse
Unigene: 135015 Human
Unigene: 42202 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
R-spondin（Rspo）是近年来新发现的蛋白家族,包括4个成员（Rspo1～4）。Rspo蛋白家族所有成员均为分泌性蛋白,均有两个富含半胱氨酸的furin-like结构域、1个TSP1结构域和富含碱性氨基酸的C端区域。Rspos通过激活并协同Wnt/β-catenin信号通路参与对细胞增殖和分化的调控,影响骨骼、肌肉、血管等组织的发育以及肢体和性腺的形成,并在多种疾病的发生过程中起重要作用。
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