GNAQ

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 key	Position(s)	DescriptionActions	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	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
Inferred from biological aspect of ancestorⁱ
- 21873635
G protein-coupled receptor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
GTPase activator activity
Source: UniProtKB
Inferred from direct assayⁱ
- 15611106
GTPase activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
GTP binding Source: UniProtKB-KW
metal ion binding Source: UniProtKB-KW
type 2A serotonin receptor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

action potential
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
activation of phospholipase C activity
Source: ProtInc
Traceable author statementⁱ
- 8825633
adenylate cyclase-activating G protein-coupled receptor signaling pathway
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
adenylate cyclase-modulating G protein-coupled receptor signaling pathway
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
blood coagulation
Source: ProtInc
Traceable author statementⁱ
- 9238049
entrainment of circadian clock Source: AgBase
glutamate receptor signaling pathway
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
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
Inferred from mutant phenotypeⁱ
- 20399743
phototransduction, visible light Source: AgBase
platelet activation Source: Reactome
protein stabilization
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 20399743
regulation of canonical Wnt signaling pathway
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 20399743

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Transducer
Ligand	GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

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 alpha Alternative name(s): Guanine nucleotide-binding protein alpha-q
Gene namesⁱ	Name:GNAQ Synonyms:GAQ
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000156052.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4390 GNAQ
MIMⁱ	600998 gene
neXtProtⁱ	NX_P50148

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.

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2776
MalaCards human disease database More...MalaCardsⁱ	GNAQ
MIMⁱ	163000 phenotype 185300 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000156052
Orphanetⁱ	624 Familial multiple nevi flammei 79483 Phakomatosis cesioflammea 3205 Sturge-Weber syndrome 39044 Uveal melanoma
PharmGKBⁱ	PA174

Chemistry databases

ChEMBLⁱ	CHEMBL3286079

ChEMBLⁱ

CHEMBL3286079

Polymorphism and mutation databases

DMDMⁱ	251757492

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	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	Deamidated glutamine; by Photorhabdus PAU_022301 Publication	1

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

EPDⁱ	P50148
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P50148
PaxDbⁱ	P50148
PeptideAtlas More...PeptideAtlasⁱ	P50148
PRIDEⁱ	P50148
ProteomicsDBⁱ	56198

PTM databases

iPTMnetⁱ	P50148
PhosphoSitePlusⁱ	P50148
SwissPalmⁱ	P50148

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland
CleanExⁱ	HS_GNAQ
ExpressionAtlasⁱ	P50148 baseline and differential
Genevisibleⁱ	P50148 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB010036 HPA048886

HPAⁱ

CAB010036
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

With	Entry	#Exp.	IntAct	Notes
ARRB1	P49407	2	EBI-3909604,EBI-743313
IQSEC1	Q6DN90	2	EBI-3909604,EBI-3044091
RARA	P10276	4	EBI-3909604,EBI-413374
Trpm8	Q8R455	4	EBI-3909604,EBI-15993527	From Rattus norvegicus.

GO - Molecular functionⁱ

G protein-coupled receptor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
type 2A serotonin receptor binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	109038, 85 interactors
CORUMⁱ	P50148
Database of interacting proteins More...DIPⁱ	DIP-41652N
IntActⁱ	P50148, 14 interactors
Molecular INTeraction database More...MINTⁱ	P50148
STRINGⁱ	9606.ENSP00000286548

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P50148
SMRⁱ	P50148
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

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

Phylogenomic databases

eggNOGⁱ	KOG0085 Eukaryota ENOG410XNVQ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118851
HOGENOMⁱ	HOG000038729
HOVERGENⁱ	HBG063184
InParanoidⁱ	P50148
KEGG Orthology (KO) More...KOⁱ	K04634
OMAⁱ	WRFTQTN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0VUT
PhylomeDBⁱ	P50148
TreeFamⁱ	TF300673

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

P50148-1 [UniParc]FASTA Add 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.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	B1AM21	B1AM21_HUMAN		Guanine nucleotide-binding protein ... Guanine nucleotide-binding protein G(q) subunit alpha	GNAQ	170	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6658.1
PIRⁱ	S59635 S71963
NCBI Reference Sequences More...RefSeqⁱ	NP_002063.2, NM_002072.4
UniGeneⁱ	Hs.269782 Hs.594695

Genome annotation databases

Ensemblⁱ	ENST00000286548; ENSP00000286548; ENSG00000156052
GeneIDⁱ	2776
KEGGⁱ	hsa:2776
UCSC genome browser More...UCSCⁱ	uc004akw.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P50148	Guanine nucleotide-binding protein G(q) subunit alpha		CANLF		359	UniRef100_P50148
Guanine nucleotide-binding protein G(q) subunit alpha		PIG		359
Guanine nucleotide binding protein (G protein), q polypeptide, isoform CRA_c		HUMAN		359
Guanine nucleotide-binding protein G(Q) subunit alpha		MACMU		359
G protein subunit alpha q		CALJA		359
+25

Protein	Similar proteins		Species	Score	Length	Source
P50148	Guanine nucleotide-binding protein G(q) subunit alpha		CANLF		359	UniRef90_P50148
Guanine nucleotide-binding protein G(q) subunit alpha		PIG		359
Guanine nucleotide-binding protein G(q) subunit alpha		RAT		359
Guanine nucleotide binding protein (G protein), q polypeptide, isoform CRA_c		HUMAN		359
Guanine nucleotide-binding protein G(Q) subunit alpha		MACMU		359
+88

Protein	Similar proteins		Species	Score	Length	Source
P50148	Guanine nucleotide-binding protein G(q) subunit alpha		CANLF		359	UniRef50_P50148
Guanine nucleotide-binding protein G(q) subunit alpha		PIG		359
Guanine nucleotide-binding protein G(q) subunit alpha		RAT		359
Guanine nucleotide binding protein (G protein), q polypeptide, isoform CRA_c		HUMAN		359
Guanine nucleotide-binding protein G(Q) subunit alpha		MACMU		359
+175

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
UniGeneⁱ	Hs.269782 Hs.594695

3D structure databases

ProteinModelPortalⁱ	P50148
SMRⁱ	P50148
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109038, 85 interactors
CORUMⁱ	P50148
DIPⁱ	DIP-41652N
IntActⁱ	P50148, 14 interactors
MINTⁱ	P50148
STRINGⁱ	9606.ENSP00000286548

Chemistry databases

ChEMBLⁱ	CHEMBL3286079

ChEMBLⁱ

CHEMBL3286079

PTM databases

iPTMnetⁱ	P50148
PhosphoSitePlusⁱ	P50148
SwissPalmⁱ	P50148

Polymorphism and mutation databases

DMDMⁱ	251757492

DMDMⁱ

251757492

Proteomic databases

EPDⁱ	P50148
MaxQBⁱ	P50148
PaxDbⁱ	P50148
PeptideAtlasⁱ	P50148
PRIDEⁱ	P50148
ProteomicsDBⁱ	56198

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2776
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000286548; ENSP00000286548; ENSG00000156052
GeneIDⁱ	2776
KEGGⁱ	hsa:2776
UCSCⁱ	uc004akw.5 human

Organism-specific databases

CTDⁱ	2776
DisGeNETⁱ	2776
EuPathDBⁱ	HostDB:ENSG00000156052.10
GeneCardsⁱ	GNAQ
HGNCⁱ	HGNC:4390 GNAQ
HPAⁱ	CAB010036 HPA048886
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0085 Eukaryota ENOG410XNVQ LUCA
GeneTreeⁱ	ENSGT00760000118851
HOGENOMⁱ	HOG000038729
HOVERGENⁱ	HBG063184
InParanoidⁱ	P50148
KOⁱ	K04634
OMAⁱ	WRFTQTN
OrthoDBⁱ	EOG091G0VUT
PhylomeDBⁱ	P50148
TreeFamⁱ	TF300673

Enzyme and pathway databases

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

ChiTaRSⁱ	GNAQ human
GeneWikiⁱ	GNAQ
GenomeRNAiⁱ	2776
Protein Ontology More...PROⁱ	PR:P50148
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000156052 Expressed in 243 organ(s), highest expression level in thoracic mammary gland
CleanExⁱ	HS_GNAQ
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
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GNAQ_HUMAN
Accessionⁱ	P50148Primary (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 7, 2018
	This is version 181 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM

UniProtKB

UniParc

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UniRef

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Supporting data

UniProtKB - P50148 (GNAQ_HUMAN)

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Guanine nucleotide-binding protein G(q) subunit alpha

Select a section on the left to see content.

<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

Sites

Regions

<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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

Other locations

Extracellular region or secreted

Lysosome

Nucleus

Plasma Membrane

Other locations

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

<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

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ