ID  P50148;
PN  Guanine nucleotide-binding protein G(q) subunit alpha;
GN  GNAQ;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Cell membrane {ECO:0000269|PubMed:19001095}; Lipid-anchor {ECO:0000269|PubMed:19001095}. Golgi apparatus {ECO:0000269|PubMed:19001095}. Nucleus {ECO:0000250|UniProtKB:P21279}. Nucleus membrane {ECO:0000250|UniProtKB:P21279}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250|UniProtKB:P21279}.
DR  UNIPROT: P50148;
DR  UNIPROT: O15108;
DR  UNIPROT: Q13462;
DR  UNIPROT: Q6NT27;
DR  UNIPROT: Q92471;
DR  UNIPROT: Q9BZB9;
DR  PDB: 6VU5;
DR  PDB: 7EZM;
DR  PDB: 7F6H;
DR  PDB: 7F6I;
DR  PDB: 7F8W;
DR  Pfam: PF00503;
DR  PROSITE: PS51882;
DR  OMIM: 163000;
DR  OMIM: 185300;
DR  OMIM: 600998;
DR  DisGeNET: 2776;
DE  Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Required for platelet activation. 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). Transduces FFAR4 signaling in response to long- chain fatty acids (LCFAs) (PubMed:27852822). Together with GNA11, required for heart development (By similarity). {ECO:0000250|UniProtKB:P21279, ECO:0000269|PubMed:27852822}.
DE  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. {ECO:0000269|PubMed:23656586}. Note=The disease is caused by variants affecting the gene represented in this entry. 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, intellectual disability, and recurrent stroke-like episodes. {ECO:0000269|PubMed:23656586}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P32302; IntAct: EBI-7276612; Score: 0.40
DE  Interaction: P30556; IntAct: EBI-7409738; Score: 0.40
DE  Interaction: P51884; IntAct: EBI-3909602; Score: 0.37
DE  Interaction: P50897; IntAct: EBI-3909621; Score: 0.37
DE  Interaction: Q9H0P0; IntAct: EBI-3918371; Score: 0.37
DE  Interaction: Q8IWW8; IntAct: EBI-3923179; Score: 0.37
DE  Interaction: Q9UGN5; IntAct: EBI-7055495; Score: 0.44
DE  Interaction: P10276; IntAct: EBI-6249283; Score: 0.56
DE  Interaction: Q14254; IntAct: EBI-6249310; Score: 0.35
DE  Interaction: P49407; IntAct: EBI-8309016; Score: 0.52
DE  Interaction: P16284; IntAct: EBI-9984652; Score: 0.40
DE  Interaction: Q61879; IntAct: EBI-11041929; Score: 0.35
DE  Interaction: Q6DN90; IntAct: EBI-11896524; Score: 0.40
DE  Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35
DE  Interaction: Q96QD9; IntAct: EBI-21501187; Score: 0.35
DE  Interaction: Q13503; IntAct: EBI-21501670; Score: 0.35
DE  Interaction: Q53EQ6; IntAct: EBI-21523123; Score: 0.35
DE  Interaction: P21453; IntAct: EBI-21539478; Score: 0.35
DE  Interaction: Q9NRW4; IntAct: EBI-21542541; Score: 0.35
DE  Interaction: P09067; IntAct: EBI-21543288; Score: 0.35
DE  Interaction: Q9NT62; IntAct: EBI-21549217; Score: 0.35
DE  Interaction: Q9UHK0; IntAct: EBI-21549449; Score: 0.35
DE  Interaction: O95136; IntAct: EBI-21551126; Score: 0.35
DE  Interaction: Q6PEY0; IntAct: EBI-21551307; Score: 0.35
DE  Interaction: Q8N5S1; IntAct: EBI-21587332; Score: 0.35
DE  Interaction: Q16854; IntAct: EBI-21603108; Score: 0.35
DE  Interaction: Q9NVR5; IntAct: EBI-21603625; Score: 0.35
DE  Interaction: P02675; IntAct: EBI-21646531; Score: 0.35
DE  Interaction: Q8TAG9; IntAct: EBI-21673041; Score: 0.35
DE  Interaction: Q92845; IntAct: EBI-21702814; Score: 0.35
DE  Interaction: Q96S94; IntAct: EBI-21750627; Score: 0.35
DE  Interaction: Q8NFB2; IntAct: EBI-21757603; Score: 0.35
DE  Interaction: Q6ZNA4; IntAct: EBI-21806464; Score: 0.35
DE  Interaction: Q86VZ1; IntAct: EBI-21809853; Score: 0.35
DE  Interaction: Q86Z23; IntAct: EBI-21814288; Score: 0.35
DE  Interaction: Q9UN70; IntAct: EBI-21824946; Score: 0.35
DE  Interaction: P63215; IntAct: EBI-21830507; Score: 0.35
DE  Interaction: P50150; IntAct: EBI-21830434; Score: 0.35
DE  Interaction: Q96AZ6; IntAct: EBI-21849278; Score: 0.35
DE  Interaction: Q9NYW3; IntAct: EBI-21852327; Score: 0.35
DE  Interaction: Q7Z698; IntAct: EBI-21860016; Score: 0.35
DE  Interaction: Q8TCI5; IntAct: EBI-21862131; Score: 0.35
DE  Interaction: Q8N446; IntAct: EBI-21872004; Score: 0.35
DE  Interaction: Q7RTX9; IntAct: EBI-21871985; Score: 0.35
DE  Interaction: Q8R455; IntAct: EBI-15993574; Score: 0.59
DE  Interaction: Q969F8; IntAct: EBI-21282286; Score: 0.40
DE  Interaction: P60033; IntAct: EBI-25645944; Score: 0.35
DE  Interaction: P0DTC3; IntAct: EBI-25686340; Score: 0.35
GO  GO:0005737;
GO  GO:0070062;
GO  GO:0005794;
GO  GO:0005834;
GO  GO:0005765;
GO  GO:0031965;
GO  GO:0001750;
GO  GO:0005886;
GO  GO:0045202;
GO  GO:0001664;
GO  GO:0031683;
GO  GO:0005525;
GO  GO:0005096;
GO  GO:0003924;
GO  GO:0046872;
GO  GO:0001508;
GO  GO:0007202;
GO  GO:0007189;
GO  GO:0007188;
GO  GO:0007596;
GO  GO:0009649;
GO  GO:0007213;
GO  GO:0007215;
GO  GO:0006469;
GO  GO:0007603;
GO  GO:0050821;
GO  GO:0060828;
GO  GO:0010543;
TP  Membrane Topology: Lipid-Anchored; Source: UniProt - By Similarity {ECO:0000250|UniProtKB:P21279};
SQ  MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGFTKLVY
SQ  QNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYY
SQ  LNDLDRVADPAYLPTQQDVLRVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
SQ  ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQRDAQAAREFILKMFVDLNPDS
SQ  DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV
//