Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
Function:
Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions.
Subcellular Location:
Cell membrane. Cytoplasm. Preferentially accumulates at the apical surface and ileal brush border of intestinal epithelial cells.
Tissue Specificity:
Expressed in kidney and the gastrointestinal tract. Not detected in brain, heart, skeletal muscle or cells of hematopoietic origin.
Similarity:
Contains 4 PDZ (DHR) domains.
SWISS:
Q86UT5
Gene ID:
607146
Database links:
Entrez Gene: 79849 Human
Entrez Gene: 170761 Mouse
Entrez Gene: 500986 Rat
Omim: 607146 Human
SwissProt: Q86UT5 Human
SwissProt: Q99MJ6 Mouse
Unigene: 374726 Human
Unigene: 29872 Mouse
Unigene: 54119 Rat
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