ID: NP_002063.2 Name: NP_002063 Description: guanine nucleotide-binding protein G(q) subunit alpha [Homo sapiens] Number of features: 16 /topology=linear /data_file_division=PRI /date=21-DEC-2019 /accessions=['NP_002063'] /sequence_version=2 /keywords=['RefSeq', 'MANE Select'] /source=Homo sapiens (human) /organism=Homo sapiens /taxonomy=['Eukaryota', 'Metazoa', 'Chordata', 'Craniata', 'Vertebrata', 'Euteleostomi', 'Mammalia', 'Eutheria', 'Euarchontoglires', 'Primates', 'Haplorrhini', 'Catarrhini', 'Hominidae', 'Homo'] /references=[Reference(title='Heterogeneity in Mitogen-Activated Protein Kinase (MAPK) Pathway Activation in Uveal Melanoma With Somatic GNAQ and GNA11 Mutations', ...), Reference(title='Role of Galphaq in pathogenesis of psoriasis, a new mechanism about the immune regulation in psoriasis', ...), Reference(title='Gbetagamma signaling to the chemotactic effector P-REX1 and mammalian cell migration is directly regulated by Galphaq and Galpha13 proteins', ...), Reference(title='Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma', ...), Reference(title='Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis', ...), Reference(title='Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene', ...), Reference(title='Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain', ...), Reference(title='Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator', ...), Reference(title='The G protein coupled to the thromboxane A2 receptor in human platelets is a member of the novel Gq family', ...), Reference(title='Purification and characterization of membrane-bound phospholipase C specific for phosphoinositides from human platelets', ...)] /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. /structured_comment=OrderedDict([('Evidence-Data', OrderedDict([('Transcript exon combination', 'SRR1803616.64210.1, SRR1803611.79552.1 [ECO:0000332]'), ('RNAseq introns', 'mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]')])), ('RefSeq-Attributes', OrderedDict([('MANE Ensembl match', 'ENST00000286548.9/ ENSP00000286548.4'), ('RefSeq Select criteria', 'based on conservation, expression, longest protein')]))]) Seq('MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKST...NLV', IUPACProtein()) Features CDS 1