| 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 : |
Mammalian cells |
| Species : |
Human |
| Tag : |
Flag |
| Form : |
25 mM Tris HCl, pH 7.3, 100 mM glycine, 10% glycerol. |
| Molecular Mass : |
45.5 kDa |
| AA Sequence : |
MGCLGNSKTEDQRNEEKAQREANKK IEKQLQKDKQVYRATHRLLLLGAGE SGKSTIVKQMRILHVNGFNG EGGEEDPQAARSNSDGEKATKVQDI KNNLKEAIETIVAAMSNLVPPVELA NPENQFRVDYILSVMNVPDF DFPPEFYEHAKALWEDEGVRACYER SNEYQLIDCAQYFLDKIDVIKQADY VPSDQDLLRCRVLTSGIFET KFQVDKVNFHMFDVGGQRDERRKWI QCFNDVTAIIFVVASSSYNMVIRED NQTNRLQEALNLFKSIWNNR WLRTISVILFLNKQDLLAEKVLAGK SKIEDYFPEFARYTTPEDATPEPGE DPRVTRAKYFIRDEFLRIST
ASGDGRHYCYPHFTCAVDTENIRRV FNDCRDIIQRMHLRQYELLTRRLEQ KLISEEDLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining. |
| Stability : |
Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. |
| Storage : |
Store at -80 centigrade. |
| Concentration : |
>50 ug/mL as determined by microplate BCA method. |
| Preparation : |
Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. |
| 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 |
