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UniProtKB - P50148 (GNAQ_HUMAN)

Entry version 184 (13 Feb 2019)
Sequence version 4 (07 Jul 2009)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi53MagnesiumBy similarity1
Metal bindingi186MagnesiumBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei331GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi46 – 53GTPBy similarity8
Nucleotide bindingi180 – 186GTPBy similarity7
Nucleotide bindingi205 – 209GTPBy similarity5
Nucleotide bindingi274 – 277GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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)

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P50148

SIGNOR Signaling Network Open Resource

More...SIGNORi		P50148

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(q) subunit alpha
Alternative name(s):
Guanine nucleotide-binding protein alpha-q
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNAQ
Synonyms:GAQ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000156052.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:4390 GNAQ

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600998 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P50148

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		2776

MalaCards human disease database

More...MalaCardsi		GNAQ
MIMi163000 phenotype
185300 phenotype

Open Targets

More...OpenTargetsi		ENSG00000156052

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		624 Familial multiple nevi flammei
79483 Phakomatosis cesioflammea
3205 Sturge-Weber syndrome
39044 Uveal melanoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA174

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3286079

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GNAQ

Domain mapping of disease mutations (DMDM)

More...DMDMi		251757492

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002037601 – 359Guanine nucleotide-binding protein G(q) subunit alphaAdd BLAST359

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi9S-palmitoyl cysteineBy similarity1
Lipidationi10S-palmitoyl cysteineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei183ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei209Deamidated glutamine; by Photorhabdus PAU_022301 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		P50148

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P50148

MaxQB - The MaxQuant DataBase

More...MaxQBi		P50148

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P50148

PeptideAtlas

More...PeptideAtlasi		P50148

PRoteomics IDEntifications database

More...PRIDEi		P50148

ProteomicsDB human proteome resource

More...ProteomicsDBi		56198

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P50148

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P50148

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P50148

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P50148 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P50148 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010036
HPA048886

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109038, 85 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P50148

Database of interacting proteins

More...DIPi		DIP-41652N

Protein interaction database and analysis system

More...IntActi		P50148, 14 interactors

Molecular INTeraction database

More...MINTi		P50148

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000286548

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P50148

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P50148

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0085 Eukaryota
ENOG410XNVQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161347

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000038729

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG063184

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P50148

KEGG Orthology (KO)

More...KOi		K04634

Identification of Orthologs from Complete Genome Data

More...OMAi		WRFTQTN

Database of Orthologous Groups

More...OrthoDBi		976319at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P50148

TreeFam database of animal gene trees

More...TreeFami		TF300673

Family and domain databases

Conserved Domains Database

More...CDDi		cd00066 G-alpha, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000654 Gprotein_alpha_Q
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR10218 PTHR10218, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00503 G-alpha, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00318 GPROTEINA
PR00442 GPROTEINAQ

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00275 G_alpha, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6F69C4F617DFA7C7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6658.1

Protein sequence database of the Protein Information Resource

More...PIRi		S59635
S71963

NCBI Reference Sequences

More...RefSeqi		NP_002063.2, NM_002072.4

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.269782
Hs.594695

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000286548; ENSP00000286548; ENSG00000156052

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2776

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2776

UCSC genome browser

More...UCSCi		uc004akw.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

BioMutaiGNAQ
DMDMi251757492

Proteomic databases

EPDiP50148
jPOSTiP50148
MaxQBiP50148
PaxDbiP50148
PeptideAtlasiP50148
PRIDEiP50148
ProteomicsDBi56198

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2776
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2776
DisGeNETi2776
EuPathDBiHostDB:ENSG00000156052.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		GNAQ
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0085 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00940000161347
HOGENOMiHOG000038729
HOVERGENiHBG063184
InParanoidiP50148
KOiK04634
OMAiWRFTQTN
OrthoDBi976319at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GNAQ human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GNAQ

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2776

Protein Ontology

More...PROi		PR:P50148

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNAQ_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50148
Secondary accession number(s): O15108
, Q13462, Q6NT27, Q92471, Q9BZB9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 7, 2009
Last modified: February 13, 2019
This is version 184 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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