LOCUS       NP_002063                359 aa            linear   PRI 12-JUN-2025
DEFINITION  guanine nucleotide-binding protein G(q) subunit alpha [Homo
            sapiens].
ACCESSION   NP_002063
VERSION     NP_002063.2
DBSOURCE    REFSEQ: accession NM_002072.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 359)
  AUTHORS   Howard,M.K., Hoppe,N., Huang,X.P., Mitrovic,D., Billesbolle,C.B.,
            Macdonald,C.B., Mehrotra,E., Rockefeller Grimes,P., Trinidad,D.D.,
            Delemotte,L., English,J.G., Coyote-Maestas,W. and Manglik,A.
  TITLE     Molecular basis of proton sensing by G protein-coupled receptors
  JOURNAL   Cell 188 (3), 671-687 (2025)
   PUBMED   39753132
REFERENCE   2  (residues 1 to 359)
  AUTHORS   Zhu,P., Bi,X., Su,D., Li,X., Chen,Y., Song,Z., Zhao,L., Wang,Y.,
            Xu,S. and Wu,X.
  TITLE     Transcription repression of estrogen receptor alpha by
            ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic
            ovary syndrome
  JOURNAL   Hum Cell 37 (6), 1663-1678 (2024)
   PUBMED   39225978
  REMARK    GeneRIF: Transcription repression of estrogen receptor alpha by
            ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic
            ovary syndrome.
REFERENCE   3  (residues 1 to 359)
  AUTHORS   Ham,D., Shihoya,W., Nureki,O., Inoue,A. and Chung,K.Y.
  TITLE     Molecular mechanism of the endothelin receptor type B interactions
            with Gs, Gi, and Gq
  JOURNAL   Structure 32 (10), 1632-1639 (2024)
   PUBMED   39043181
  REMARK    GeneRIF: Molecular mechanism of the endothelin receptor type B
            interactions with Gs, Gi, and Gq.
REFERENCE   4  (residues 1 to 359)
  AUTHORS   Ren,J., Cui,Z., Jiang,C., Wang,L., Guan,Y., Ren,Y., Zhang,S.,
            Tu,T., Yu,J., Li,Y., Duan,W., Guan,J., Wang,K., Zhang,H., Xing,D.,
            Kahn,M.L., Zhang,H. and Hong,T.
  TITLE     GNA14 and GNAQ somatic mutations cause spinal and intracranial
            extra-axial cavernous hemangiomas
  JOURNAL   Am J Hum Genet 111 (7), 1370-1382 (2024)
   PUBMED   38917801
  REMARK    GeneRIF: GNA14 and GNAQ somatic mutations cause spinal and
            intracranial extra-axial cavernous hemangiomas.
REFERENCE   5  (residues 1 to 359)
  AUTHORS   Langbroek,G.B., Stor,M.L.E., Janssen,V., de Haan,A.,
            Horbach,S.E.R., Graupera,M., van Noesel,C.J.M., van der
            Horst,C.M.A.M., Wolkerstorfer,A. and Huveneers,S.
  TITLE     Characterization of Patient-Derived GNAQ Mutated Endothelial Cells
            from Capillary Malformations
  JOURNAL   J Invest Dermatol 144 (6), 1378-1388 (2024)
   PUBMED   38013159
  REMARK    GeneRIF: Characterization of Patient-Derived GNAQ Mutated
            Endothelial Cells from Capillary Malformations.
REFERENCE   6  (residues 1 to 359)
  AUTHORS   Dong,Q., Shenker,A., Way,J., Haddad,B.R., Lin,K., Hughes,M.R.,
            McBride,O.W., Spiegel,A.M. and Battey,J.
  TITLE     Molecular cloning of human G alpha q cDNA and chromosomal
            localization of the G alpha q gene (GNAQ) and a processed
            pseudogene
  JOURNAL   Genomics 30 (3), 470-475 (1995)
   PUBMED   8825633
REFERENCE   7  (residues 1 to 359)
  AUTHORS   Lesch,K.P. and Manji,H.K.
  TITLE     Signal-transducing G proteins and antidepressant drugs: evidence
            for modulation of alpha subunit gene expression in rat brain
  JOURNAL   Biol Psychiatry 32 (7), 549-579 (1992)
   PUBMED   1333286
REFERENCE   8  (residues 1 to 359)
  AUTHORS   Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and
            Ross,E.M.
  TITLE     Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11,
            its physiologic regulator
  JOURNAL   Cell 70 (3), 411-418 (1992)
   PUBMED   1322796
REFERENCE   9  (residues 1 to 359)
  AUTHORS   Shenker,A., Goldsmith,P., Unson,C.G. and Spiegel,A.M.
  TITLE     The G protein coupled to the thromboxane A2 receptor in human
            platelets is a member of the novel Gq family
  JOURNAL   J Biol Chem 266 (14), 9309-9313 (1991)
   PUBMED   1851174
REFERENCE   10 (residues 1 to 359)
  AUTHORS   Banno,Y., Yada,Y. and Nozawa,Y.
  TITLE     Purification and characterization of membrane-bound phospholipase C
            specific for phosphoinositides from human platelets
  JOURNAL   J Biol Chem 263 (23), 11459-11465 (1988)
   PUBMED   2841328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160278.24, BC067850.1 and
            AL355535.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 20, 2003 this sequence version replaced NP_002063.1.
            
            Summary: This locus encodes a guanine nucleotide-binding protein.
            The encoded protein, an alpha subunit in the Gq class, couples a
            seven-transmembrane domain receptor to activation of phospolipase
            C-beta. Mutations at this locus have been associated with problems
            in platelet activation and aggregation. A related pseudogene exists
            on chromosome 2.[provided by RefSeq, Nov 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891431.1, BC067850.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286548.9/ ENSP00000286548.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     Protein         1..359
                     /product="guanine nucleotide-binding protein G(q) subunit
                     alpha"
                     /note="guanine nucleotide-binding protein alpha-q; guanine
                     nucleotide binding protein (G protein), q polypeptide;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=42011
     Region          40..353
                     /region_name="G-alpha"
                     /note="Alpha subunit of G proteins (guanine nucleotide
                     binding); cd00066"
                     /db_xref="CDD:206639"
     Region          41..54
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (P50148.4)"
     Site            order(46,51..53,186,205,208,274..275,277,330..331)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206639"
     Site            46..53
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206639"
     Site            order(47..49,77,81,85,88,91..92,110,113,154,183,208,216,
                     220)
                     /site_type="active"
                     /note="GoLoco binding site [active]"
                     /db_xref="CDD:206639"
     Region          178..186
                     /region_name="G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (P50148.4)"
     Site            181..189
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206639"
     Site            186
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206639"
     Site            order(187,189,191,202,204,208..210,212,215..216,218..221)
                     /site_type="other"
                     /note="beta - gamma complex interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Site            order(189,214,217..218,221)
                     /site_type="other"
                     /note="adenylyl cyclase interaction site [polypeptide
                     binding]"
                     /db_xref="CDD:206639"
     Region          201..210
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (P50148.4)"
     Site            205..208
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206639"
     Site            206..222
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206639"
     Region          270..277
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (P50148.4)"
     Site            274..277
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206639"
     Site            order(322..333,335..338)
                     /site_type="active"
                     /note="putative receptor binding site [active]"
                     /db_xref="CDD:206639"
     Region          329..334
                     /region_name="G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
                     /note="propagated from UniProtKB/Swiss-Prot (P50148.4)"
     Site            330..332
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206639"
     CDS             1..359
                     /gene="GNAQ"
                     /gene_synonym="CMAL; CMC1; G-ALPHA-q; GAQ; SWS"
                     /coded_by="NM_002072.5:577..1656"
                     /db_xref="CCDS:CCDS6658.1"
                     /db_xref="GeneID:2776"
                     /db_xref="HGNC:HGNC:4390"
                     /db_xref="MIM:600998"
ORIGIN      
        1 mtlesimacc lseeakearr indeierqlr rdkrdarrel kllllgtges gkstfikqmr
       61 iihgsgysde dkrgftklvy qniftamqam iramdtlkip ykyehnkaha qlvrevdvek
      121 vsafenpyvd aikslwndpg iqecydrrre yqlsdstkyy lndldrvadp aylptqqdvl
      181 rvrvpttgii eypfdlqsvi frmvdvggqr serrkwihcf envtsimflv alseydqvlv
      241 esdnenrmee skalfrtiit ypwfqnssvi lflnkkdlle ekimyshlvd yfpeydgpqr
      301 daqaarefil kmfvdlnpds dkiiyshftc atdtenirfv faavkdtilq lnlkeynlv
//
