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P50148 (GNAQ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Guanine nucleotide-binding protein G(q) subunit alpha
Alternative name(s):
Guanine nucleotide-binding protein alpha-q
Gene names
Name:GNAQ
Synonyms:GAQ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

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. Ref.12 Ref.13

Subcellular location

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.

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). Ref.2 Ref.15

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16

Sequence similarities

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

Ontologies

Keywords
   Cellular componentMembrane
Nucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   LigandGTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionTransducer
   PTMADP-ribosylation
Lipoprotein
Palmitate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaction potential

Inferred from Biological aspect of Ancestor. Source: RefGenome

activation of phospholipase C activity

Traceable author statement Ref.1. Source: ProtInc

adenylate cyclase-activating G-protein coupled receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

blood coagulation

Traceable author statement. Source: Reactome

developmental pigmentation

Inferred from electronic annotation. Source: Ensembl

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

forebrain neuron development

Inferred from electronic annotation. Source: Ensembl

glutamate receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

heart development

Inferred from electronic annotation. Source: Ensembl

maternal behavior

Inferred from electronic annotation. Source: Ensembl

negative regulation of protein kinase activity

Inferred from mutant phenotype PubMed 20399743. Source: BHF-UCL

neuron remodeling

Inferred from electronic annotation. Source: Ensembl

phospholipase C-activating dopamine receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

platelet activation

Traceable author statement. Source: Reactome

positive regulation of GTPase activity

Inferred from direct assay PubMed 15611106. Source: GOC

post-embryonic development

Inferred from electronic annotation. Source: Ensembl

protein stabilization

Inferred from mutant phenotype PubMed 20399743. Source: BHF-UCL

regulation of catenin import into nucleus

Inferred from mutant phenotype PubMed 20399743. Source: BHF-UCL

regulation of melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Traceable author statement PubMed 9175863. Source: ProtInc

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 19199708PubMed 23376485. Source: UniProt

extrinsic component of cytoplasmic side of plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

heterotrimeric G-protein complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

nuclear membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionG-protein beta/gamma-subunit complex binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

G-protein coupled receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

GTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

GTPase activator activity

Inferred from direct assay PubMed 15611106. Source: UniProtKB

GTPase activity

Traceable author statement PubMed 9238049. Source: ProtInc

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction Ref.13. Source: UniProtKB

signal transducer activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 359359Guanine nucleotide-binding protein G(q) subunit alpha
PRO_0000203760

Regions

Nucleotide binding46 – 538GTP By similarity
Nucleotide binding180 – 1867GTP By similarity
Nucleotide binding205 – 2095GTP By similarity
Nucleotide binding274 – 2774GTP By similarity

Sites

Metal binding531Magnesium By similarity
Metal binding1861Magnesium By similarity
Binding site3311GTP; via amide nitrogen By similarity

Amino acid modifications

Modified residue1831ADP-ribosylarginine; by cholera toxin By similarity
Lipidation91S-palmitoyl cysteine By similarity
Lipidation101S-palmitoyl cysteine By similarity

Natural variations

Natural variant1831R → 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. Ref.16 Ref.18
VAR_067270
Natural variant2091Q → L Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation. Ref.17
VAR_067271
Natural variant3551E → D.
Corresponds to variant rs1059531 [ dbSNP | Ensembl ].
VAR_059319

Experimental info

Sequence conflict41E → D in AAB64301. Ref.5
Sequence conflict28 – 292QL → HV in AAC50363. Ref.1
Sequence conflict921R → T in AAB64301. Ref.5
Sequence conflict1031Y → C in AAB64301. Ref.5
Sequence conflict3241I → N in AAB06875. Ref.2
Sequence conflict3371I → V in AAB64301. Ref.5
Sequence conflict3581L → A in AAB39498. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P50148 [UniParc].

Last modified July 7, 2009. Version 4.
Checksum: 6F69C4F617DFA7C7

FASTA35942,142
        10         20         30         40         50         60 
MTLESIMACC LSEEAKEARR INDEIERQLR RDKRDARREL KLLLLGTGES GKSTFIKQMR 

        70         80         90        100        110        120 
IIHGSGYSDE DKRGFTKLVY QNIFTAMQAM IRAMDTLKIP YKYEHNKAHA QLVREVDVEK 

       130        140        150        160        170        180 
VSAFENPYVD AIKSLWNDPG IQECYDRRRE YQLSDSTKYY LNDLDRVADP AYLPTQQDVL 

       190        200        210        220        230        240 
RVRVPTTGII EYPFDLQSVI FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV 

       250        260        270        280        290        300 
ESDNENRMEE SKALFRTIIT YPWFQNSSVI LFLNKKDLLE EKIMYSHLVD YFPEYDGPQR 

       310        320        330        340        350 
DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ LNLKEYNLV 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene."
Dong Q., Shenker A., Way J., Haddad B.R., Lin K., Hughes M.R., McBride W.O., Spiegel A.M., Battey J.
Genomics 30:470-475(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Human G(alpha q): cDNA and tissue distribution."
Chen B., Leverette R.D., Schwinn D.A., Kwatra M.M.
Biochim. Biophys. Acta 1281:125-128(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Prostate.
[3]"Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences."
Johnson G.J., Leis L.A., Dunlop P.C.
Biochem. J. 318:1023-1031(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"G alpha q cDNA sequence from human platelets."
Gabbeta J., Dhanasekaran N., Rao A.K.
Thromb. Res. 91:29-32(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]"Nucleotide sequence of human Gq guanine nucleotide binding protein."
Bai X.H., Acharya R., Rivera C., Murtagh J.J.
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
Puhl H.L. III, Ikeda S.R., Aronstam R.S.
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Placenta.
[10]"Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain."
Lesch K.-P., Manji H.K.
Biol. Psychiatry 32:549-579(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 80-235.
Tissue: Brain cortex.
[11]"Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways."
Thomas C.P., Dunn M.J., Mattera R.
Biochem. J. 312:151-158(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 244-337.
Tissue: Hematopoietic.
[12]"Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)."
Rochdi M.D., Watier V., La Madeleine C., Nakata H., Kozasa T., Parent J.-L.
J. Biol. Chem. 277:40751-40759(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SLC9A3R1.
[13]"Regulation of G protein-coupled receptor activities by the platelet-endothelial cell adhesion molecule, PECAM-1."
Yeh J.C., Otte L.A., Frangos J.A.
Biochemistry 47:9029-9039(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PECAM1.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Expression of G protein alphaq subunit is decreased in lymphocytes from rheumatoid arthritis patients and is correlated with disease activity."
Wang Y., Li Y., He Y., Sun Y., Sun W., Xie Q., Yin G., Du Y., Wang L., Shi G.
Scand. J. Immunol. 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[16]"Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ."
Shirley M.D., Tang H., Gallione C.J., Baugher J.D., Frelin L.P., Cohen B., North P.E., Marchuk D.A., Comi A.M., Pevsner J.
N. Engl. J. Med. 368:1971-1979(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMC, VARIANT SWS GLN-183, CHARACTERIZATION OF VARIANT SWS GLN-183.
[17]"Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi."
Van Raamsdonk C.D., Bezrookove V., Green G., Bauer J., Gaugler L., O'Brien J.M., Simpson E.M., Barsh G.S., Bastian B.C.
Nature 457:599-602(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT LEU-209.
[18]"GNAQ and GNA11 mutations in melanocytomas of the central nervous system."
Murali R., Wiesner T., Rosenblum M.K., Bastian B.C.
Acta Neuropathol. 123:457-459(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLN-183.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6658.1.
PIRS59635.
S71963.
RefSeqNP_002063.2. NM_002072.4.
UniGeneHs.269782.
Hs.594695.

3D structure databases

ProteinModelPortalP50148.
SMRP50148. Positions 18-354.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109038. 40 interactions.
IntActP50148. 9 interactions.
MINTMINT-262439.
STRING9606.ENSP00000286548.

PTM databases

PhosphoSiteP50148.

Polymorphism databases

DMDM251757492.

Proteomic databases

MaxQBP50148.
PaxDbP50148.
PRIDEP50148.

Protocols and materials databases

DNASU2776.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286548; ENSP00000286548; ENSG00000156052.
GeneID2776.
KEGGhsa:2776.
UCSCuc004akw.3. human.

Organism-specific databases

CTD2776.
GeneCardsGC09M080331.
HGNCHGNC:4390. GNAQ.
HPACAB010036.
HPA048886.
MIM163000. phenotype.
185300. phenotype.
600998. gene.
neXtProtNX_P50148.
Orphanet624. Familial multiple nevi flammei.
3205. Sturge-Weber syndrome.
PharmGKBPA174.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322962.
HOGENOMHOG000038729.
HOVERGENHBG063184.
InParanoidP50148.
KOK04634.
OMALKISYGV.
OrthoDBEOG7ZWD1W.
PhylomeDBP50148.
TreeFamTF300673.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_111217. Metabolism.
REACT_604. Hemostasis.
SignaLinkP50148.

Gene expression databases

ArrayExpressP50148.
BgeeP50148.
CleanExHS_GNAQ.
GenevestigatorP50148.

Family and domain databases

Gene3D1.10.400.10. 1 hit.
3.40.50.300. 2 hits.
InterProIPR000654. Gprotein_alpha_Q.
IPR001019. Gprotein_alpha_su.
IPR011025. GproteinA_insert.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR10218. PTHR10218. 1 hit.
PfamPF00503. G-alpha. 1 hit.
[Graphical view]
PRINTSPR00318. GPROTEINA.
PR00442. GPROTEINAQ.
SMARTSM00275. G_alpha. 1 hit.
[Graphical view]
SUPFAMSSF47895. SSF47895. 1 hit.
SSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

ChiTaRSGNAQ. human.
GeneWikiGNAQ.
GenomeRNAi2776.
NextBio10922.
PROP50148.
SOURCESearch...

Entry information

Entry nameGNAQ_HUMAN
AccessionPrimary (citable) accession number: P50148
Secondary accession number(s): O15108 expand/collapse secondary AC list , Q13462, Q6NT27, Q92471, Q9BZB9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 7, 2009
Last modified: July 9, 2014
This is version 139 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM