InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GNAQ

Summary

InnateDB Gene

IDBG-72455.6

Last Modified

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

Gene Symbol

GNAQ

Gene Name

guanine nucleotide binding protein (G protein), q polypeptide

Synonyms

CMC1; G-ALPHA-q; GAQ; SWS

Species

Homo sapiens

Ensembl Gene

ENSG00000156052

Encoded Proteins

IDBP-72459

guanine nucleotide binding protein (G protein), q polypeptide

IDBP-373641

guanine nucleotide binding protein (G protein), q polypeptide

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:77716087-78031458

Strand

Reverse strand

Band

q21.2

Transcripts

ENST00000286548	ENSP00000286548
ENST00000411677	ENSP00000391501

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024639

View Gene Order

ENSBTAG00000009789

Not yet available

Pathways

NETPATH

NetPath_22

Leptin pathway

NetPath_23

TSH pathway

REACTOME

REACT_19140

ADP signalling through P2Y purinoceptor 1 pathway

REACT_20647

Thromboxane signalling through TP receptor pathway

REACT_21384

Thrombin signalling through proteinase activated receptors (PARs) pathway

REACT_18283

G alpha (q) signalling events pathway

REACT_120966

Gastrin-CREB signalling pathway via PKC and MAPK pathway

REACT_18405

Acetylcholine regulates insulin secretion pathway

REACT_19193

Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion pathway

REACT_18325

Regulation of insulin secretion pathway

REACT_1505

Integration of energy metabolism pathway

REACT_14797

Signaling by GPCR pathway

REACT_798

Platelet activation, signaling and aggregation pathway

REACT_111102

Signal Transduction pathway

REACT_19184

GPCR downstream signaling pathway

REACT_19375

Free fatty acids regulate insulin secretion pathway

REACT_111217

Metabolism pathway

REACT_20524

Signal amplification pathway

REACT_604

Hemostasis pathway

KEGG

hsa04912

GnRH signaling pathway pathway

hsa04540

Gap junction pathway

hsa04720

Long-term potentiation pathway

hsa05010

Alzheimer's disease pathway

hsa04730

Long-term depression pathway

hsa04020

Calcium signaling pathway pathway

hsa04916

Melanogenesis pathway

hsa04270

Vascular smooth muscle contraction pathway

hsa05016

Huntington's disease pathway

hsa04971

Gastric acid secretion pathway

hsa05146

Amoebiasis pathway

hsa05142

Chagas disease (American trypanosomiasis) pathway

hsa04972

Pancreatic secretion pathway

hsa04970

Salivary secretion pathway

hsa05143

African trypanosomiasis pathway

INOH

INOH website

GPCR GroupI metabotropic glutamate receptor signaling pathway pathway

INOH website

GPCR signaling pathway

PID NCI

arf6_pathway

Arf6 signaling events

Cross-References

SwissProt

P50148

TrEMBL

A0A024R240 B1AM21 G3V1P7

UniProt Splice Variant

Entrez Gene

2776

UniGene

Hs.269782 Hs.594695 Hs.607667

RefSeq

NM_002072

HUGO

HGNC:4390

OMIM

600998

CCDS

CCDS6658

HPRD

IMGT

EMBL

AF011496 AF329284 AF493896 AL160268 AL160278 AL355535 BC057777 BC067850 BC069520 BC075096 BC075097 CH471089 L40629 L76256 U40038 U43083

GenPept

AAA99950 AAB06875 AAB39498 AAB64301 AAC50363 AAG61117 AAH57777 AAH67850 AAH69520 AAH75096 AAH75097 AAM12610 CAI12198 CAI14669 CAI15999 EAW62605 EAW62607 EAW62608 EAW62610

RNA Seq Atlas

2776