G protein alpha S (GNAS) (NM_000516) Human Recombinant Protein

CAT#: TP314197

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Recombinant protein of human GNAS complex locus (GNAS), transcript variant 1


 Product Datasheet for 'TP314197'

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USD 748.00


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    • 20 ug


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Specifications

Product Data
Description Recombinant protein of human GNAS complex locus (GNAS), transcript variant 1
Species Human
Expression Host HEK293T
Tag C-Myc/DDK
Predicted MW 45.5 kDa
Concentration >50 ug/mL as determined by microplate BCA method
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Preparation Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
Reference Data
RefSeq NP_000507
Locus ID 2778
Refseq Size 1593
Cytogenetics 20q13.32
Refseq ORF 1182
Synonyms AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH; SgVI
Summary 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]
Protein Families Druggable Genome, Secreted Protein
Protein Pathways Calcium signaling pathway, Dilated cardiomyopathy, Gap junction, GnRH signaling pathway, Long-term depression, Melanogenesis, Taste transduction, Vascular smooth muscle contraction, Vibrio cholerae infection

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