InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNA11

Summary

InnateDB Protein

IDBP-16832.6

Last Modified

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

Gene Symbol

GNA11

Protein Name

guanine nucleotide binding protein (G protein), alpha 11 (Gq class)

Synonyms

FBH; FBH2; FHH2; GNA-11; HHC2; HYPOC2;

Species

Homo sapiens

Ensembl Protein

ENSP00000078429

InnateDB Gene

IDBG-16830 (GNA11)

Protein Structure

UniProt Annotation

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.

Subcellular Localization

Cell membrane {ECO:0000305PubMed:18703424}; Lipid-anchor {ECO:0000305PubMed:18703424}. Cytoplasm {ECO:0000269PubMed:18703424}. Note=In testicular cells, expressed exclusively in the cytoplasm.

Disease Associations

Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. {ECO:0000269PubMed:23782177, ECO:0000269PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in testis. {ECO:0000269PubMed:18703424}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0004871	signal transducer activity
GO:0005525	GTP binding
GO:0019001	guanyl nucleotide binding
GO:0031683	G-protein beta/gamma-subunit complex binding
GO:0031826	type 2A serotonin receptor binding
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0001508	action potential
GO:0006184	GTP catabolic process
GO:0007165	signal transduction
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007507	heart development
GO:0007596	blood coagulation
GO:0030168	platelet activation
GO:0045634	regulation of melanocyte differentiation
GO:0048066	developmental pigmentation
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway
GO:0071467	cellular response to pH

Cellular Component

GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005834	heterotrimeric G-protein complex
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000654 G-protein alpha subunit, group Q
IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit
IPR002975 Fungal G-protein, alpha subunit
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR011025 G protein alpha subunit, helical insertion
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00503
PF00025

PRINTS

PR00442
PR00318
PR01241
PR00328

PIRSF

SMART

SM00275

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt