InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GUCY2C

Summary

InnateDB Protein

IDBP-20990.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GUCY2C

Protein Name

guanylate cyclase 2C (heat stable enterotoxin receptor)

Synonyms

DIAR6; GUC2C; MECIL; MUCIL; STAR;

Species

Homo sapiens

Ensembl Protein

ENSP00000261170

InnateDB Gene

IDBG-20988 (GUCY2C)

Protein Structure

UniProt Annotation

Function

Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269PubMed:23269669}. Endoplasmic reticulum membrane {ECO:0000269PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269PubMed:23269669}. Note=The 145 kDa plasma membrane form of GC-C contains sialic acid and galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in the endoplasmic reticulum and may serve as the precursor for the cell surface form.

Disease Associations

Diarrhea 6 (DIAR6) [MIM:614616]: A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. {ECO:0000269PubMed:22436048}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meconium ileus (MECIL) [MIM:614665]: A condition characterized by a intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis. {ECO:0000269PubMed:22521417}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004383	guanylate cyclase activity
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding
GO:0015643	toxic substance binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0016849	phosphorus-oxygen lyase activity

Biological Process

GO:0006182	cGMP biosynthetic process
GO:0006468	protein phosphorylation
GO:0007168	receptor guanylyl cyclase signaling pathway
GO:0009190	cyclic nucleotide biosynthetic process
GO:0009636	response to toxic substance
GO:0035556	intracellular signal transduction
GO:0042127	regulation of cell proliferation

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001054 Adenylyl cyclase class-3/4/guanylyl cyclase
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR001828 Extracellular ligand-binding receptor
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain
IPR028082 Periplasmic binding protein-like I
IPR029787 Nucleotide cyclase

PFAM

PF00069
PF00211
PF07714
PF01094

PRINTS

PR00109

PIRSF

SMART

SM00044
SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt