GTP-binding regulatory protein Gs alpha (adenylate cyclase-stimulating, GNAS GNAS1, GSP)
Jump to navigation
Jump to search
Function
- stimulation of adenyl cyclase & Ca+2 channels
- inhibition of Na+ channels
- coupled to beta-adrenergic receptors
Structure
belongs to the G-alpha family, G(s) subfamily
Alternative splicing
named isoforms=7
Pathology
- defects in GNAS are the cause of
- Albright hereditary osteodystrophy
- pseudohypoparathyroidism types 1A & 1B
- McCune-Albright syndrome
- a subset of growth hormone secreting pituitary tumors (somatotrophinoma)
- progressive osseous heteroplasia
- ACTH-independent macronodular adrenal hyperplasia
- pseudohypoparathyroidism type 1B
Genetics
- the GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally & biallelically expressed proteins
- the XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived & the Nesp55 isoforms are maternally derived
- protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame
More general terms
More specific terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/P63092.html
- ↑ GNAS mutation db http://www.le.ac.uk/genetics/maa7/GNAS1/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAS
- ↑ Bourne HR et al, The GTPase superfamily: a conserved switch for diverse cell functions Nature 348:125 1990 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2122258
Database
- UniProt: http://www.uniprot.org/uniprot/P63092.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2778
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2778
- OMIM: https://mirror.omim.org/entry/102200
- OMIM: https://mirror.omim.org/entry/103580
- OMIM: https://mirror.omim.org/entry/139320
- OMIM: https://mirror.omim.org/entry/166350
- OMIM: https://mirror.omim.org/entry/174800
- OMIM: https://mirror.omim.org/entry/219080
- OMIM: https://mirror.omim.org/entry/603233