PDZD3

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]

Description

PDZ domain containing 3

Tissue specificity

Group enriched (intestine, kidney)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

11 (119185457 - 119190223)

Ensembl ID

ENSG00000172367  (ver. 103.38)

Orthologs

Mouse Pdzd3: ENSMUSG00000032105

UniProt

Q86UT5

neXtProt

NX_Q86UT5

Human splice variants
Mouse splice variants

Protein structure