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Protein

Guanine nucleotide-binding protein G(q) subunit alpha

Gene

GNAQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi53MagnesiumBy similarity1
Metal bindingi186MagnesiumBy similarity1
Binding sitei331GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi46 – 53GTPBy similarity8
Nucleotide bindingi180 – 186GTPBy similarity7
Nucleotide bindingi205 – 209GTPBy similarity5
Nucleotide bindingi274 – 277GTPBy similarity4

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

Keywordsi

Molecular functionTransducer
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-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)
SignaLinkiP50148
SIGNORiP50148

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(q) subunit alpha
Alternative name(s):
Guanine nucleotide-binding protein alpha-q
Gene namesi
Name:GNAQ
Synonyms:GAQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000156052.10
HGNCiHGNC:4390 GNAQ
MIMi600998 gene
neXtProtiNX_P50148

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Capillary malformations, congenital (CMC)1 Publication
The disease is caused by mutations 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.
See also OMIM:163000
Sturge-Weber syndrome (SWS)1 Publication
The disease is caused by mutations 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.
See also OMIM:185300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067270183R → 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 mutation

Organism-specific databases

DisGeNETi2776
MalaCardsiGNAQ
MIMi163000 phenotype
185300 phenotype
OpenTargetsiENSG00000156052
Orphaneti624 Familial multiple nevi flammei
79483 Phakomatosis cesioflammea
3205 Sturge-Weber syndrome
39044 Uveal melanoma
PharmGKBiPA174

Chemistry databases

ChEMBLiCHEMBL3286079

Polymorphism and mutation databases

DMDMi251757492

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002037601 – 359Guanine nucleotide-binding protein G(q) subunit alphaAdd BLAST359

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi9S-palmitoyl cysteineBy similarity1
Lipidationi10S-palmitoyl cysteineBy similarity1
Modified residuei183ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei209Deamidated glutamine; by Photorhabdus PAU_022301 Publication1

Post-translational modificationi

(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

Keywords - PTMi

ADP-ribosylation, Lipoprotein, Palmitate

Proteomic databases

EPDiP50148
MaxQBiP50148
PaxDbiP50148
PeptideAtlasiP50148
PRIDEiP50148
ProteomicsDBi56198

PTM databases

iPTMnetiP50148
PhosphoSitePlusiP50148
SwissPalmiP50148

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

BgeeiENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland
CleanExiHS_GNAQ
ExpressionAtlasiP50148 baseline and differential
GenevisibleiP50148 HS

Organism-specific databases

HPAiCAB010036
HPA048886

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 PECAM1.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109038, 85 interactors
CORUMiP50148
DIPiDIP-41652N
IntActiP50148, 14 interactors
MINTiP50148
STRINGi9606.ENSP00000286548

Structurei

3D structure databases

ProteinModelPortaliP50148
SMRiP50148
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-alpha family. G(q) subfamily.Curated

Phylogenomic databases

eggNOGiKOG0085 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00760000118851
HOGENOMiHOG000038729
HOVERGENiHBG063184
InParanoidiP50148
KOiK04634
OMAiWRFTQTN
OrthoDBiEOG091G0VUT
PhylomeDBiP50148
TreeFamiTF300673

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR000654 Gprotein_alpha_Q
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00442 GPROTEINAQ
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:359
Mass (Da):42,142
Last modified:July 7, 2009 - v4
Checksum:i6F69C4F617DFA7C7
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AM21B1AM21_HUMAN
Guanine nucleotide-binding protein ...
GNAQ
170Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4E → D in AAB64301 (Ref. 5) Curated1
Sequence conflicti28 – 29QL → HV in AAC50363 (PubMed:8825633).Curated2
Sequence conflicti92R → T in AAB64301 (Ref. 5) Curated1
Sequence conflicti103Y → C in AAB64301 (Ref. 5) Curated1
Sequence conflicti324I → N in AAB06875 (PubMed:8664309).Curated1
Sequence conflicti337I → V in AAB64301 (Ref. 5) Curated1
Sequence conflicti358L → A in AAB39498 (PubMed:8836152).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067270183R → 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_067271209Q → L Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation. 1 PublicationCorresponds to variant dbSNP:rs121913492EnsemblClinVar.1
Natural variantiVAR_059319355E → 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
CCDSiCCDS6658.1
PIRiS59635
S71963
RefSeqiNP_002063.2, NM_002072.4
UniGeneiHs.269782
Hs.594695

Genome annotation databases

EnsembliENST00000286548; ENSP00000286548; ENSG00000156052
GeneIDi2776
KEGGihsa:2776
UCSCiuc004akw.5 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS6658.1
PIRiS59635
S71963
RefSeqiNP_002063.2, NM_002072.4
UniGeneiHs.269782
Hs.594695

3D structure databases

ProteinModelPortaliP50148
SMRiP50148
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109038, 85 interactors
CORUMiP50148
DIPiDIP-41652N
IntActiP50148, 14 interactors
MINTiP50148
STRINGi9606.ENSP00000286548

Chemistry databases

ChEMBLiCHEMBL3286079

PTM databases

iPTMnetiP50148
PhosphoSitePlusiP50148
SwissPalmiP50148

Polymorphism and mutation databases

DMDMi251757492

Proteomic databases

EPDiP50148
MaxQBiP50148
PaxDbiP50148
PeptideAtlasiP50148
PRIDEiP50148
ProteomicsDBi56198

Protocols and materials databases

DNASUi2776
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286548; ENSP00000286548; ENSG00000156052
GeneIDi2776
KEGGihsa:2776
UCSCiuc004akw.5 human

Organism-specific databases

CTDi2776
DisGeNETi2776
EuPathDBiHostDB:ENSG00000156052.10
GeneCardsiGNAQ
HGNCiHGNC:4390 GNAQ
HPAiCAB010036
HPA048886
MalaCardsiGNAQ
MIMi163000 phenotype
185300 phenotype
600998 gene
neXtProtiNX_P50148
OpenTargetsiENSG00000156052
Orphaneti624 Familial multiple nevi flammei
79483 Phakomatosis cesioflammea
3205 Sturge-Weber syndrome
39044 Uveal melanoma
PharmGKBiPA174
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0085 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00760000118851
HOGENOMiHOG000038729
HOVERGENiHBG063184
InParanoidiP50148
KOiK04634
OMAiWRFTQTN
OrthoDBiEOG091G0VUT
PhylomeDBiP50148
TreeFamiTF300673

Enzyme and pathway databases

ReactomeiR-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)
SignaLinkiP50148
SIGNORiP50148

Miscellaneous databases

ChiTaRSiGNAQ human
GeneWikiiGNAQ
GenomeRNAii2776
PROiPR:P50148
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland
CleanExiHS_GNAQ
ExpressionAtlasiP50148 baseline and differential
GenevisibleiP50148 HS

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR000654 Gprotein_alpha_Q
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00442 GPROTEINAQ
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGNAQ_HUMAN
AccessioniPrimary (citable) accession number: P50148
Secondary accession number(s): O15108
, Q13462, Q6NT27, Q92471, Q9BZB9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 7, 2009
Last modified: November 7, 2018
This is version 181 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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