GNAS
GNAS complex locus
Synonymes:
AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PHP1A, PHP1B, PHP1C, POH
Espèce(s):
Human GNAS (2778), Mouse Gnas (14683), Rat Gnas (24896), domestic guinea pig Gnas (100732436), naked mole-rat Gnas (101716905), dog GNAS (403943), domestic cat GNAS (101098453), cow GNAS (281793), Zebrafish gnas (557353), chicken GNAS (419313)
ID UniProtKB:
ID du gène:
- Human(2778) 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]
- Mouse(14683) GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
- Rat(24896) GNAS complex locus
- domestic guinea pig(100732436) GNAS complex locus
- naked mole-rat(101716905) GNAS complex locus
- dog(403943) GNAS complex locus
- domestic cat(101098453) GNAS complex locus
- cow(281793) GNAS complex locus
- Zebrafish(557353) GNAS complex locus
- chicken(419313) GNAS complex locus
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Antibodies
Référence du produit
Description
Espèces réactives
Application
Anti-Gs protein Antibody, alpha subunit, clone N192/12, clone N192/12, from mouse,
Espèces réactives
bovine, human, rat
Application
western blot
Anticorps anti-Gsα, serum, Upstate®,
Espèces réactives
bovine, human, mouse
Application
immunocytochemistry
immunoprecipitation (IP)
western blot
immunoprecipitation (IP)
western blot
Anti-GNAS antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, ab2,
Espèces réactives
human
Application
immunohistochemistry
Anti-GNAS antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Espèces réactives
human
Application
immunohistochemistry
western blot
western blot
Anti-GNAS antibody produced in rabbit, affinity isolated antibody,
Espèces réactives
bovine, dog, guinea pig, horse, human, mouse, rat
Application
immunohistochemistry
western blot
western blot