G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1)
[Edit]NESP55; NESP; GNASXL; GPSA; SCG6; Secretogranin VI; Adenylate cyclase-stimulating G alpha protein; Guanine Nucleotide Binding Protein Alpha Stimulating Activity Polypeptide 1
GNAS is a complex imprinted locus that produces multiple transcripts through the use of alternative promoters and alternative splicing. The most well-characterized transcript derived from GNAS, Gs-alpha, encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G protein). Gs-alpha is expressed biallelically in nearly all tissues and plays essential roles in a multitude of physiologic processes. Other transcripts produced by GNAS are expressed exclusively from either the paternal or the maternal GNAS allele .
GNAS1 has a highly complex imprinted expression pattern. The GNAS locus is imprinted and encodes 4 main transcripts, Gs-alpha, XLAS, NESP55, and the A/B transcript, as well as an antisense GNAS transcript (GNASAS).
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPJ803Hu01 | Recombinant G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | n/a | Monoclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for G Protein Alpha Stimulating Activity Polypeptide 1 (GNaS1) | ELISA Kit Customized Service Offer |
- "Identification by molecular cloning of two forms of the alpha-subunit of the human liver stimulatory (GS) regulatory component of adenylyl cyclase."FEBS Lett. 206:36-42(1986) [PubMed] [Europe PMC] [Abstract]
- "Complete cDNA sequence of a human stimulatory GTP-binding protein alpha subunit."Nucleic Acids Res. 16:3585-3585(1988) [PubMed] [Europe PMC] [Abstract]
- "Isolation and characterization of the human Gs alpha gene."Proc. Natl. Acad. Sci. U.S.A. 85:2081-2085(1988) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Human cDNA clones for four species of G alpha s signal transduction protein."Proc. Natl. Acad. Sci. U.S.A. 83:8893-8897(1986) [PubMed] [Europe PMC] [Abstract]
- "Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes."Biochem. J. 383:237-248(2004) [PubMed] [Europe PMC] [Abstract]
- "Direct binding of the beta1 adrenergic receptor to the cyclic AMP-dependent guanine nucleotide exchange factor CNrasGEF leads to Ras activation."Mol. Cell. Biol. 22:7942-7952(2002) [PubMed] [Europe PMC] [Abstract]
- "Cryptochrome mediates circadian regulation of cAMP signaling and hepatic gluconeogenesis."Nat. Med. 16:1152-1156(2010) [PubMed] [Europe PMC] [Abstract]
- "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
- "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
- "Site-specific analysis of protein S-acylation by resin-assisted capture."J. Lipid Res. 52:393-398(2011) [PubMed] [Europe PMC] [Abstract]
- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
- "Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy."J. Clin. Endocrinol. Metab. 76:1560-1568(1993) [PubMed] [Europe PMC] [Abstract]
- "Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome."Proc. Natl. Acad. Sci. U.S.A. 89:5152-5156(1992) [PubMed] [Europe PMC] [Abstract]
- "Activating mutations of the stimulatory G protein in the McCune-Albright syndrome."N. Engl. J. Med. 325:1688-1695(1991) [PubMed] [Europe PMC] [Abstract]
- "GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours."Nature 340:692-696(1989) [PubMed] [Europe PMC] [Abstract]
- "A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase."J. Biol. Chem. 269:25387-25391(1994) [PubMed] [Europe PMC] [Abstract]
- "Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function."Nature 371:164-168(1994) [PubMed] [Europe PMC] [Abstract]
- "Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene."J. Cancer Res. Clin. Oncol. 121:219-224(1995) [PubMed] [Europe PMC] [Abstract]
- "G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas."Eur. J. Clin. Invest. 25:128-131(1995) [PubMed] [Europe PMC] [Abstract]
- "Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients."Eur. J. Endocrinol. 134:720-726(1996) [PubMed] [Europe PMC] [Abstract]
- "Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation."J. Biol. Chem. 271:19653-19655(1996) [PubMed] [Europe PMC] [Abstract]
- "Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone."Bone 21:201-206(1997) [PubMed] [Europe PMC] [Abstract]
- "A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism."Mol. Endocrinol. 11:1718-1727(1997) [PubMed] [Europe PMC] [Abstract]
- "Conditional activation defect of a human Gsalpha mutant."Proc. Natl. Acad. Sci. U.S.A. 94:5656-5661(1997) [PubMed] [Europe PMC] [Abstract]
- "A novel mutation in the switch 3 region of Gs-alpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation."J. Biol. Chem. 273:23976-23983(1998) [PubMed] [Europe PMC] [Abstract]
- "A novel GNAS1 mutation, R201G, in McCune-albright syndrome."J. Bone Miner. Res. 14:1987-1989(1999) [PubMed] [Europe PMC] [Abstract]
- "A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity."Proc. Natl. Acad. Sci. U.S.A. 96:4268-4272(1999) [PubMed] [Europe PMC] [Abstract]
- "A GNAS1 imprinting defect in pseudohypoparathyroidism type IB."J. Clin. Invest. 106:1167-1174(2000) [PubMed] [Europe PMC] [Abstract]
- "Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism."Am. J. Hum. Genet. 68:1283-1289(2001) [PubMed] [Europe PMC] [Abstract]
- "Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib."J. Biol. Chem. 276:165-171(2001) [PubMed] [Europe PMC] [Abstract]
- "Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia."J. Hum. Genet. 46:426-430(2001) [PubMed] [Europe PMC] [Abstract]
- "Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy."J. Clin. Endocrinol. Metab. 86:4630-4634(2001) [PubMed] [Europe PMC] [Abstract]
- "GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance."J. Clin. Endocrinol. Metab. 87:189-197(2002) [PubMed] [Europe PMC] [Abstract]
- "Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a."J. Pediatr. Endocrinol. Metab. 15:259-268(2002) [PubMed] [Europe PMC] [Abstract]
- "Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1."Am. J. Hum. Genet. 73:314-322(2003) [PubMed] [Europe PMC] [Abstract]
- "Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA."Am. J. Hum. Genet. 72:961-974(2003) [PubMed] [Europe PMC] [Abstract]
- "A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy."Eur. J. Endocrinol. 148:463-468(2003) [PubMed] [Europe PMC] [Abstract]
- "Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene."J. Clin. Endocrinol. Metab. 88:2147-2151(2003) [PubMed] [Europe PMC] [Abstract]
- "Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS."J. Clin. Invest. 112:1255-1263(2003) [PubMed] [Europe PMC] [Abstract]
- "Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene."Clin. Exp. Dermatol. 29:77-80(2004) [PubMed] [Europe PMC] [Abstract]
- "A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS."Am. J. Hum. Genet. 76:804-814(2005) [PubMed] [Europe PMC] [Abstract]
- "Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene."Eur. J. Endocrinol. 152:515-519(2005) [PubMed] [Europe PMC] [Abstract]
- "Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib."Nat. Genet. 37:25-27(2005) [PubMed] [Europe PMC] [Abstract]
- "Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction."Hum. Mutat. 32:653-660(2011) [PubMed] [Europe PMC] [Abstract]