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Protein

Guanine nucleotide-binding protein G(q) subunit alpha

Gene

GNAQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transducer

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156052-MONOMER.
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

HGNCiHGNC:4390. GNAQ.

Subcellular locationi

  • Nucleus By similarity
  • Membrane By similarity
  • Nucleus membrane By similarity

  • Note: Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes.By similarity

GO - Cellular componenti

  • cell body Source: Ensembl
  • cytoplasm Source: ProtInc
  • dendrite Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • lysosomal membrane Source: UniProtKB
  • nuclear membrane Source: UniProtKB-SubCell
  • photoreceptor outer segment Source: AgBase
  • plasma membrane Source: Reactome
Complete GO annotation...

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
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 rs397514698dbSNPEnsembl.1
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 rs397514698dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2776.
MalaCardsiGNAQ.
MIMi163000. phenotype.
185300. phenotype.
OpenTargetsiENSG00000156052.
Orphaneti624. Familial multiple nevi flammei.
3205. Sturge-Weber syndrome.
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.

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.
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

WithEntry#Exp.IntActNotes
ARRB1P494072EBI-3909604,EBI-743313
IQSEC1Q6DN902EBI-3909604,EBI-3044091
RARAP102764EBI-3909604,EBI-413374

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109038. 79 interactors.
DIPiDIP-41652N.
IntActiP50148. 12 interactors.
MINTiMINT-262439.
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.
OMAiFIKELWE.
OrthoDBiEOG091G0VUT.
PhylomeDBiP50148.
TreeFamiTF300673.

Family and domain databases

CDDicd00066. G-alpha. 1 hit.
Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR000654. Gprotein_alpha_Q.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00442. GPROTEINAQ.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

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

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 rs397514698dbSNPEnsembl.1
Natural variantiVAR_067271209Q → L Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation. 1 PublicationCorresponds to variant rs121913492dbSNPEnsembl.1
Natural variantiVAR_059319355E → D.Corresponds to variant rs1059531dbSNPEnsembl.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, AL160278, AL355535 Genomic DNA. Translation: CAI12198.1.
AL355535, AL160268, AL160278 Genomic DNA. Translation: CAI14669.1.
AL160278, AL160268, AL355535 Genomic DNA. Translation: CAI15999.1.
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

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, AL160278, AL355535 Genomic DNA. Translation: CAI12198.1.
AL355535, AL160268, AL160278 Genomic DNA. Translation: CAI14669.1.
AL160278, AL160268, AL355535 Genomic DNA. Translation: CAI15999.1.
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. 79 interactors.
DIPiDIP-41652N.
IntActiP50148. 12 interactors.
MINTiMINT-262439.
STRINGi9606.ENSP00000286548.

Chemistry databases

ChEMBLiCHEMBL3286079.

PTM databases

iPTMnetiP50148.
PhosphoSitePlusiP50148.
SwissPalmiP50148.

Polymorphism and mutation databases

DMDMi251757492.

Proteomic databases

EPDiP50148.
MaxQBiP50148.
PaxDbiP50148.
PeptideAtlasiP50148.
PRIDEiP50148.

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.
GeneCardsiGNAQ.
HGNCiHGNC:4390. GNAQ.
HPAiCAB010036.
HPA048886.
MalaCardsiGNAQ.
MIMi163000. phenotype.
185300. phenotype.
600998. gene.
neXtProtiNX_P50148.
OpenTargetsiENSG00000156052.
Orphaneti624. Familial multiple nevi flammei.
3205. Sturge-Weber syndrome.
PharmGKBiPA174.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156052-MONOMER.
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.
PROiP50148.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156052.
CleanExiHS_GNAQ.
ExpressionAtlasiP50148. baseline and differential.
GenevisibleiP50148. HS.

Family and domain databases

CDDicd00066. G-alpha. 1 hit.
Gene3Di1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR000654. Gprotein_alpha_Q.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10218. PTHR10218. 1 hit.
PfamiPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSiPR00318. GPROTEINA.
PR00442. GPROTEINAQ.
SMARTiSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiGNAQ_HUMAN
AccessioniPrimary (citable) accession number: P50148
Secondary accession number(s): O15108
, Q13462, Q6NT27, Q92471, Q9BZB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 7, 2009
Last modified: November 30, 2016
This is version 165 of the entry and version 4 of the sequence. [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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.