InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNAQ

Summary

InnateDB Protein

IDBP-72459.6

Last Modified

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

Gene Symbol

GNAQ

Protein Name

guanine nucleotide binding protein (G protein), q polypeptide

Synonyms

CMC1; G-ALPHA-q; GAQ; SWS;

Species

Homo sapiens

Ensembl Protein

ENSP00000286548

InnateDB Gene

IDBG-72455 (GNAQ)

Protein Structure

UniProt Annotation

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}. Membrane {ECO:0000250}. Nucleus membrane {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.

Disease Associations

Capillary malformations, congenital (CMC) [MIM:163000]: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. {ECO:0000269PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.Sturge-Weber syndrome (SWS) [MIM:185300]: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes. {ECO:0000269PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level). {ECO:0000269PubMed:21923740, ECO:0000269PubMed:8664309}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 55 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	55 [view]
Protein-Protein	55 [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:0001664	G-protein coupled receptor binding
GO:0003924	GTPase activity
GO:0004871	signal transducer activity
GO:0005096	GTPase activator activity
GO:0005515	protein binding
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:0006469	negative regulation of protein kinase activity
GO:0007165	signal transduction
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007202	activation of phospholipase C activity
GO:0007215	glutamate receptor signaling pathway
GO:0007507	heart development
GO:0007596	blood coagulation
GO:0009791	post-embryonic development
GO:0016322	neuron remodeling
GO:0021884	forebrain neuron development
GO:0030168	platelet activation
GO:0035412	regulation of catenin import into nucleus
GO:0042711	maternal behavior
GO:0042733	embryonic digit morphogenesis
GO:0043547	positive regulation of GTPase activity
GO:0045634	regulation of melanocyte differentiation
GO:0048066	developmental pigmentation
GO:0050821	protein stabilization
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway

Cellular Component

GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005834	heterotrimeric G-protein complex
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0031965	nuclear 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