UniProtKB - P50148 (GNAQ_HUMAN)
Protein
Guanine nucleotide-binding protein G(q) subunit alpha
Gene
GNAQ
Organism
Homo sapiens (Human)
Status
Functioni
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). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs).By similarity1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 53 | MagnesiumBy similarity | 1 | |
Metal bindingi | 186 | MagnesiumBy similarity | 1 | |
Binding sitei | 331 | GTP; via amide nitrogenBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 46 – 53 | GTPBy similarity | 8 | |
Nucleotide bindingi | 180 – 186 | GTPBy similarity | 7 | |
Nucleotide bindingi | 205 – 209 | GTPBy similarity | 5 | |
Nucleotide bindingi | 274 – 277 | GTPBy similarity | 4 |
GO - Molecular functioni
- G-protein beta/gamma-subunit complex binding Source: GO_Central
- G protein-coupled receptor binding Source: GO_Central
- GTPase activator activity Source: UniProtKB
- GTPase activity Source: GO_Central
- GTP binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
- type 2A serotonin receptor binding Source: GO_Central
GO - Biological processi
- action potential Source: GO_Central
- activation of phospholipase C activity Source: ProtInc
- adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: GO_Central
- adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
- blood coagulation Source: ProtInc
- entrainment of circadian clock Source: AgBase
- glutamate receptor signaling pathway Source: GO_Central
- G protein-coupled acetylcholine receptor signaling pathway Source: AgBase
- G protein-coupled receptor signaling pathway Source: Reactome
- negative regulation of protein kinase activity Source: BHF-UCL
- phototransduction, visible light Source: AgBase
- platelet activation Source: Reactome
- protein stabilization Source: BHF-UCL
- regulation of canonical Wnt signaling pathway Source: BHF-UCL
Keywordsi
Molecular function | Transducer |
Ligand | GTP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P50148 |
Reactomei | R-HSA-399997, Acetylcholine regulates insulin secretion R-HSA-416476, G alpha (q) signalling events R-HSA-418592, ADP signalling through P2Y purinoceptor 1 R-HSA-428930, Thromboxane signalling through TP receptor R-HSA-434316, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs) |
SignaLinki | P50148 |
SIGNORi | P50148 |
Names & Taxonomyi
Protein namesi | Recommended name: Guanine nucleotide-binding protein G(q) subunit alphaAlternative name(s): Guanine nucleotide-binding protein alpha-q |
Gene namesi | Name:GNAQ Synonyms:GAQ |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4390, GNAQ |
MIMi | 600998, gene |
neXtProti | NX_P50148 |
VEuPathDBi | HostDB:ENSG00000156052.10 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Lipid-anchor 1 Publication
Nucleus
- Nucleus By similarity
- Nucleus membrane By similarity
Golgi apparatus
- Golgi apparatus 1 Publication
Note: Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes.By similarity
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB-SubCell
Lysosome
- lysosomal membrane Source: UniProtKB
Nucleus
- nuclear membrane Source: UniProtKB-SubCell
Plasma Membrane
- heterotrimeric G-protein complex Source: GO_Central
- plasma membrane Source: Reactome
Other locations
- cytoplasm Source: ProtInc
- photoreceptor outer segment Source: AgBase
- synapse Source: GOC
Keywords - Cellular componenti
Cell membrane, Golgi apparatus, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Capillary malformations, congenital (CMC)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMSturge-Weber syndrome (SWS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067270 | 183 | R → Q in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control. 2 PublicationsCorresponds to variant dbSNP:rs397514698EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 2776 |
MalaCardsi | GNAQ |
MIMi | 163000, phenotype 185300, phenotype |
OpenTargetsi | ENSG00000156052 |
Orphaneti | 624, Familial multiple nevi flammei 79483, Phakomatosis cesioflammea 3205, Sturge-Weber syndrome 39044, Uveal melanoma |
PharmGKBi | PA174 |
Miscellaneous databases
Pharosi | P50148, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3286079 |
Genetic variation databases
BioMutai | GNAQ |
DMDMi | 251757492 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000203760 | 1 – 359 | Guanine nucleotide-binding protein G(q) subunit alphaAdd BLAST | 359 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 9 | S-palmitoyl cysteineBy similarity | 1 | |
Lipidationi | 10 | S-palmitoyl cysteineBy similarity | 1 | |
Modified residuei | 183 | ADP-ribosylarginine; by cholera toxinBy similarity | 1 | |
Modified residuei | 209 | 5-glutamyl histamineBy similarity | 1 | |
Modified residuei | 209 | Deamidated glutamine; by Photorhabdus PAU_022301 Publication | 1 |
Post-translational modificationi
Palmitoylated by ZDHHC3 and ZDHHC7 (PubMed:19001095). Palmitoylation occurs in the Golgi and participates in the localization of GNAQ to the plasma membrane (PubMed:19001095).1 Publication
(Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.1 Publication
Histaminylated at Gln-209 residues by TGM2.By similarity
Keywords - PTMi
ADP-ribosylation, Lipoprotein, PalmitateProteomic databases
EPDi | P50148 |
jPOSTi | P50148 |
MassIVEi | P50148 |
MaxQBi | P50148 |
PaxDbi | P50148 |
PeptideAtlasi | P50148 |
PRIDEi | P50148 |
ProteomicsDBi | 56198 |
PTM databases
iPTMneti | P50148 |
PhosphoSitePlusi | P50148 |
SwissPalmi | P50148 |
Expressioni
Tissue specificityi
Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level).2 Publications
Gene expression databases
Bgeei | ENSG00000156052, Expressed in thoracic mammary gland and 255 other tissues |
ExpressionAtlasi | P50148, baseline and differential |
Genevisiblei | P50148, HS |
Organism-specific databases
HPAi | ENSG00000156052, Low tissue specificity |
Interactioni
Subunit structurei
G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Binds SLC9A3R1.
Forms a complex with PECAM1 and BDKRB2.
Interacts with PECAM1.
Interacts with GAS2L2 (PubMed:23994616).
3 PublicationsBinary interactionsi
Hide detailsP50148
GO - Molecular functioni
- G protein-coupled receptor binding Source: GO_Central
- type 2A serotonin receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 109038, 93 interactors |
CORUMi | P50148 |
DIPi | DIP-41652N |
IntActi | P50148, 47 interactors |
MINTi | P50148 |
STRINGi | 9606.ENSP00000286548 |
Miscellaneous databases
RNActi | P50148, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P50148 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 38 – 359 | G-alphaPROSITE-ProRule annotationAdd BLAST | 322 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 41 – 54 | G1 motifPROSITE-ProRule annotationAdd BLAST | 14 | |
Regioni | 178 – 186 | G2 motifPROSITE-ProRule annotation | 9 | |
Regioni | 201 – 210 | G3 motifPROSITE-ProRule annotation | 10 | |
Regioni | 270 – 277 | G4 motifPROSITE-ProRule annotation | 8 | |
Regioni | 329 – 334 | G5 motifPROSITE-ProRule annotation | 6 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0085, Eukaryota |
GeneTreei | ENSGT00940000161347 |
HOGENOMi | CLU_014184_6_0_1 |
InParanoidi | P50148 |
OMAi | YFSEEMA |
OrthoDBi | 754573at2759 |
PhylomeDBi | P50148 |
TreeFami | TF300673 |
Family and domain databases
CDDi | cd00066, G-alpha, 1 hit |
Gene3Di | 1.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR000654, Gprotein_alpha_Q IPR001019, Gprotein_alpha_su IPR011025, GproteinA_insert IPR027417, P-loop_NTPase |
PANTHERi | PTHR10218, PTHR10218, 1 hit |
Pfami | View protein in Pfam PF00503, G-alpha, 1 hit |
PRINTSi | PR00318, GPROTEINA PR00442, GPROTEINAQ |
SMARTi | View protein in SMART SM00275, G_alpha, 1 hit |
SUPFAMi | SSF47895, SSF47895, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51882, G_ALPHA, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P50148-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTLESIMACC LSEEAKEARR INDEIERQLR RDKRDARREL KLLLLGTGES
60 70 80 90 100
GKSTFIKQMR IIHGSGYSDE DKRGFTKLVY QNIFTAMQAM IRAMDTLKIP
110 120 130 140 150
YKYEHNKAHA QLVREVDVEK VSAFENPYVD AIKSLWNDPG IQECYDRRRE
160 170 180 190 200
YQLSDSTKYY LNDLDRVADP AYLPTQQDVL RVRVPTTGII EYPFDLQSVI
210 220 230 240 250
FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV ESDNENRMEE
260 270 280 290 300
SKALFRTIIT YPWFQNSSVI LFLNKKDLLE EKIMYSHLVD YFPEYDGPQR
310 320 330 340 350
DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ
LNLKEYNLV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB1AM21 | B1AM21_HUMAN | Guanine nucleotide-binding protein ... | GNAQ | 170 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 | E → D in AAB64301 (Ref. 5) Curated | 1 | |
Sequence conflicti | 28 – 29 | QL → HV in AAC50363 (PubMed:8825633).Curated | 2 | |
Sequence conflicti | 92 | R → T in AAB64301 (Ref. 5) Curated | 1 | |
Sequence conflicti | 103 | Y → C in AAB64301 (Ref. 5) Curated | 1 | |
Sequence conflicti | 324 | I → N in AAB06875 (PubMed:8664309).Curated | 1 | |
Sequence conflicti | 337 | I → V in AAB64301 (Ref. 5) Curated | 1 | |
Sequence conflicti | 358 | L → A in AAB39498 (PubMed:8836152).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067270 | 183 | R → Q in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control. 2 PublicationsCorresponds to variant dbSNP:rs397514698EnsemblClinVar. | 1 | |
Natural variantiVAR_067271 | 209 | Q → L Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation. 1 PublicationCorresponds to variant dbSNP:rs121913492EnsemblClinVar. | 1 | |
Natural variantiVAR_059319 | 355 | E → D. Corresponds to variant dbSNP:rs1059531Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U40038 mRNA Translation: AAC50363.1 U43083 mRNA Translation: AAB06875.1 L76256 mRNA Translation: AAB39498.1 AF329284 mRNA Translation: AAG61117.1 AF011496 mRNA Translation: AAB64301.1 AF493896 mRNA Translation: AAM12610.1 AL160268 Genomic DNA No translation available. AL355535 Genomic DNA No translation available. AL160278 Genomic DNA No translation available. CH471089 Genomic DNA Translation: EAW62607.1 BC057777 mRNA Translation: AAH57777.1 BC067850 mRNA Translation: AAH67850.1 BC069520 mRNA Translation: AAH69520.1 BC075096 mRNA Translation: AAH75096.1 BC075097 mRNA Translation: AAH75097.1 L40629 mRNA Translation: AAA99950.1 |
CCDSi | CCDS6658.1 |
PIRi | S59635 S71963 |
RefSeqi | NP_002063.2, NM_002072.4 |
Genome annotation databases
Ensembli | ENST00000286548; ENSP00000286548; ENSG00000156052 |
GeneIDi | 2776 |
KEGGi | hsa:2776 |
UCSCi | uc004akw.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U40038 mRNA Translation: AAC50363.1 U43083 mRNA Translation: AAB06875.1 L76256 mRNA Translation: AAB39498.1 AF329284 mRNA Translation: AAG61117.1 AF011496 mRNA Translation: AAB64301.1 AF493896 mRNA Translation: AAM12610.1 AL160268 Genomic DNA No translation available. AL355535 Genomic DNA No translation available. AL160278 Genomic DNA No translation available. CH471089 Genomic DNA Translation: EAW62607.1 BC057777 mRNA Translation: AAH57777.1 BC067850 mRNA Translation: AAH67850.1 BC069520 mRNA Translation: AAH69520.1 BC075096 mRNA Translation: AAH75096.1 BC075097 mRNA Translation: AAH75097.1 L40629 mRNA Translation: AAA99950.1 |
CCDSi | CCDS6658.1 |
PIRi | S59635 S71963 |
RefSeqi | NP_002063.2, NM_002072.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6VU5 | electron microscopy | 3.50 | B | 1-359 | [»] | |
SMRi | P50148 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109038, 93 interactors |
CORUMi | P50148 |
DIPi | DIP-41652N |
IntActi | P50148, 47 interactors |
MINTi | P50148 |
STRINGi | 9606.ENSP00000286548 |
Chemistry databases
ChEMBLi | CHEMBL3286079 |
PTM databases
iPTMneti | P50148 |
PhosphoSitePlusi | P50148 |
SwissPalmi | P50148 |
Genetic variation databases
BioMutai | GNAQ |
DMDMi | 251757492 |
Proteomic databases
EPDi | P50148 |
jPOSTi | P50148 |
MassIVEi | P50148 |
MaxQBi | P50148 |
PaxDbi | P50148 |
PeptideAtlasi | P50148 |
PRIDEi | P50148 |
ProteomicsDBi | 56198 |
Protocols and materials databases
Antibodypediai | 4101, 278 antibodies |
DNASUi | 2776 |
Genome annotation databases
Ensembli | ENST00000286548; ENSP00000286548; ENSG00000156052 |
GeneIDi | 2776 |
KEGGi | hsa:2776 |
UCSCi | uc004akw.5, human |
Organism-specific databases
CTDi | 2776 |
DisGeNETi | 2776 |
GeneCardsi | GNAQ |
HGNCi | HGNC:4390, GNAQ |
HPAi | ENSG00000156052, Low tissue specificity |
MalaCardsi | GNAQ |
MIMi | 163000, phenotype 185300, phenotype 600998, gene |
neXtProti | NX_P50148 |
OpenTargetsi | ENSG00000156052 |
Orphaneti | 624, Familial multiple nevi flammei 79483, Phakomatosis cesioflammea 3205, Sturge-Weber syndrome 39044, Uveal melanoma |
PharmGKBi | PA174 |
VEuPathDBi | HostDB:ENSG00000156052.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0085, Eukaryota |
GeneTreei | ENSGT00940000161347 |
HOGENOMi | CLU_014184_6_0_1 |
InParanoidi | P50148 |
OMAi | YFSEEMA |
OrthoDBi | 754573at2759 |
PhylomeDBi | P50148 |
TreeFami | TF300673 |
Enzyme and pathway databases
PathwayCommonsi | P50148 |
Reactomei | R-HSA-399997, Acetylcholine regulates insulin secretion R-HSA-416476, G alpha (q) signalling events R-HSA-418592, ADP signalling through P2Y purinoceptor 1 R-HSA-428930, Thromboxane signalling through TP receptor R-HSA-434316, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs) |
SignaLinki | P50148 |
SIGNORi | P50148 |
Miscellaneous databases
BioGRID-ORCSi | 2776, 36 hits in 962 CRISPR screens |
ChiTaRSi | GNAQ, human |
GeneWikii | GNAQ |
GenomeRNAii | 2776 |
Pharosi | P50148, Tbio |
PROi | PR:P50148 |
RNActi | P50148, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000156052, Expressed in thoracic mammary gland and 255 other tissues |
ExpressionAtlasi | P50148, baseline and differential |
Genevisiblei | P50148, HS |
Family and domain databases
CDDi | cd00066, G-alpha, 1 hit |
Gene3Di | 1.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR000654, Gprotein_alpha_Q IPR001019, Gprotein_alpha_su IPR011025, GproteinA_insert IPR027417, P-loop_NTPase |
PANTHERi | PTHR10218, PTHR10218, 1 hit |
Pfami | View protein in Pfam PF00503, G-alpha, 1 hit |
PRINTSi | PR00318, GPROTEINA PR00442, GPROTEINAQ |
SMARTi | View protein in SMART SM00275, G_alpha, 1 hit |
SUPFAMi | SSF47895, SSF47895, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51882, G_ALPHA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GNAQ_HUMAN | |
Accessioni | P50148Primary (citable) accession number: P50148 Secondary accession number(s): O15108 Q9BZB9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | July 7, 2009 | |
Last modified: | April 7, 2021 | |
This is version 200 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families