GNAS1

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GNAS complex locus
250px
PDB rendering based on 1azs.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols GNAS ; AHO; C20orf45; GNAS1; GPSA; GSA; GSP; MGC33735; PHP1A; PHP1B; POH; dJ309F20.1.1; dJ806M20.3.3
External IDs OMIM: 139320 MGI95777 HomoloGene55534
RNA expression pattern
PBB GE GNAS 200780 x at tn.png
PBB GE GNAS 200981 x at tn.png
PBB GE GNAS 211858 x at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 2778
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 14683

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000087460
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000027523

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q5JWF2
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q9Z0F1

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000516 (mRNA)
NP_000507 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_010310 (mRNA)
NP_034440 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 20: 56.85 - 56.92 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 2: 173.93 -  173.99 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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.[1]

Deficiencies are associated with:

References

  1. "Entrez Gene: GNAS GNAS complex locus".

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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


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