Recombinant Human GNAS Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: GNAS-4664H
• Product Overview: GNAS MS Standard C13 and N15-labeled recombinant protein (NP_536351) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 44.1 kDa
• AA Sequence: MGCLGNSKTEDQRNEEKAQREANKK IEKQLQKDKQVYRATHRLLLLGAGE SGKSTIVKQMRILHVNGFNGDSEKA TKVQDIKNNLKEAIETIVAAMSNLV PPVELANPENQFRVDYILSVMNVPD FDFPPEFYEHAKALWEDEGVRACYE RSNEYQLIDCAQYFLDKIDVIKQAD YVPSDQDLLRCRVLTSGIFETKFQV DKVNFHMFDVGGQRDERRKWIQCFN DVTAIIFVVASSSYNMVIREDNQTN RLQEALNLFKSIWNNRWLRTISVIL FLNKQDLLAEKVLAGKSKIEDYFPE FARYTTPEDATPEPGEDPRVTRAKY FIRDEFLRISTASGDGRHYCYPHFT CAVDTENIRRVFNDCRDIIQRMHLR QYELLTRTRPLEQKLISEEDLAAND ILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: GNAS GNAS complex locus [ Homo sapiens (human) ]
• Official Symbol: GNAS
• Synonyms: GNAS; GNAS complex locus; GNAS1, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; protein ALEX; GNASXL; GPSA; NESP; NESP55; SCG6; secretogranin VI; extra large alphas protein; neuroendocrine secretory protein; guanine nucleotide regulatory protein; alternative gene product encoded by XL-exon; adenylate cyclase-stimulating G alpha protein; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; AHO; GSA; GSP; POH; GNAS1; PHP1A; PHP1B; PHP1C; C20orf45; MGC33735
• Gene ID: 2778
• mRNA Refseq: NM_080426
• Protein Refseq: NP_536351
• MIM: 139320
• UniProt ID: O95467