G protein alpha S (GNAS) (NM_001077489) Human Recombinant Protein

• Background:

  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. [provided by RefSeq, Aug 2012]

• Synonyms:

  AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PITA3; POH; SCG6; SgVI

• Gene ID:

  2778

• UniProt:

  Q5FWY2, O95467, P63092

• Accession Number mRNA:

  NM_001077489

• Chromosomal Location:

  20q13.32

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Calcium signaling pathway, Dilated cardiomyopathy, Gap junction, GnRH signaling pathway, Long-term depression, Melanogenesis, Taste transduction, Vascular smooth muscle contraction, Vibrio cholerae infection

• Field of Research:

  Calcium signaling pathway, Dilated cardiomyopathy, Gap junction, GnRH signaling pathway, Long-term depression, Melanogenesis, Taste transduction, Vascular smooth muscle contraction, Vibrio cholerae infection

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome, Secreted Protein

• Molecular Weight:

  44 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  GNAS

• Species:

  Human

• Protein ID:

  NP_001070957

• Overview:

  Purified recombinant protein of Homo sapiens GNAS complex locus (GNAS), transcript variant 7

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/2778

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q5FWY2

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_001077489

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_001070957