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 contains 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] (PubMed Links)
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| Domains and Motifs:
CC: Coiled Coil
SP: Signal Peptide
ARF: ARF-like small GTPases
ARF, ADP-ribosylation factor
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Gene Ontology:
KEGG - Enzyme ID(s):
KEGG - Orthology:
K04632
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Nomenclature / Alternative Names:
Guanine nucleotide binding protein alpha stimulating activity polypeptide 1; Adenylate cyclase stimulatory protein, alpha subunit; Adenylate cyclase stimulating G alpha protein; Neuroendocrine secretory protein 55; Stimulatory G protein; GNAS complex locus; Secretogranin VI; Gs alpha subunit; GNAS complex locus isoform d; GNAS complex locus isoform c; GNAS complex locus isoform a; GNAS complex locus isoform g; GNAS complex locus isoform f; GNAS complex locus isoform e; GNAS complex locus isoform b
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Approved Symbol:
| (De-) Phosphorylations:
Phosphorylation Targets:
| Total phosphorylation targets: 0 |
| Human phosphorylation targets: 0; | Predicted platelet targets: 0 |
| Protein Characteristics:
|  Associated Drugs (DrugBank Accession):
2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE(db);
Forskolin(db)
Associated Genetic Diseases:
Albright hereditary osteodystrophy(Pd); Albright hereditary osteodystrophy with testotoxicosis(Pd); Mccune-Albright syndrome(Pd); Osseous heteroplasia, progressive(Pd); Pituitary adenoma, ACTH-secreting(Pd); Pituitary tumor, growth hormone-secreting(Pd); Prolonged bleeding time, brachydactyly, and mental retardation(Pd); Pseudohypoparathyroidism, type Ia(Pd); Pseudohypoparathyroidism, type Ib(Pd); Pseudopseudohypoparathyroidism(Pd)
| Predicted Transmembrane Domains:
Isoform 7 : 0
Isoform 6 : 0
Isoform 5 : 0
Isoform 4 : 0
Isoform 3 : 0
Isoform 2 : 0
Isoform 1 : 0
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