GNAS1

GNAS complex locus
File:PBB Protein GNAS image.jpg PDB rendering based on 1azs.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1azs​, 1azt​, 1cjk​, 1cjt​, 1cju​, 1cjv​, 1cs4​, 1cul​, 1tl7​, 1u0h​, 2gvd​, 2gvz​
Identifiers
Symbols	GNAS ; AHO; C20orf45; GNAS1; GPSA; GSA; GSP; MGC33735; PHP1A; PHP1B; POH; dJ309F20.1.1; dJ806M20.3.3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 55534
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

GNAS complex locus, also known as GNAS, is a human gene.

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 exists, and this antisense transcript and one of the transcripts are paternally expressed, produce 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 have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. 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.

Deficiencies are associated with:

• Albright hereditary osteodystrophy
• pseudohypoparathyroidism type Ia
• pseudopseudohypoparathyroidism
• McCune-Albright syndrome

Further reading

• Tinschert S, Gerl H, Gewies A; et al. (1999). "McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient". Am. J. Med. Genet. 83 (2): 100–8. PMID 10190480.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Faivre L, Nivelon-Chevallier A, Kottler ML; et al. (2001). "Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome". Am. J. Med. Genet. 99 (2): 132–6. PMID 11241472.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Raymond JR, Mukhin YV, Gelasco A; et al. (2002). "Multiplicity of mechanisms of serotonin receptor signal transduction". Pharmacol. Ther. 92 (2–3): 179–212. PMID 11916537.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weinstein LS, Chen M, Liu J (2002). "Gs(alpha) mutations and imprinting defects in human disease". Ann. N. Y. Acad. Sci. 968: 173–97. PMID 12119276.CS1 maint: Multiple names: authors list (link)
• Bastepe M, Jüppner H (2005). "GNAS locus and pseudohypoparathyroidism". Horm. Res. 63 (2): 65–74. doi:10.1159/000083895. PMID 15711092.
• de Sanctis L, Delmastro L, Russo MC; et al. (2006). "Genetics of McCune-Albright syndrome". J. Pediatr. Endocrinol. Metab. 19 Suppl 2: 577–82. PMID 16789620.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aldred MA (2006). "Genetics of pseudohypoparathyroidism types Ia and Ic". J. Pediatr. Endocrinol. Metab. 19 Suppl 2: 635–40. PMID 16789628.
• Jüppner H, Bastepe M (2006). "Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism". J. Pediatr. Endocrinol. Metab. 19 Suppl 2: 641–6. PMID 16789629.
• Mantovani G, Spada A (2007). "Mutations in the Gs alpha gene causing hormone resistance". Best Pract. Res. Clin. Endocrinol. Metab. 20 (4): 501–13. doi:10.1016/j.beem.2006.09.001. PMID 17161328.

External links

• GNAS+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)