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Gs-alpha
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
a) Albright hereditary osteodystrophy
b) pseudohypoparathyroidism types 1A & 1B
c) McCune-Albright syndrome
d) a subset of growth hormone secreting pituitary tumors (somatotrophinoma)
e) progressive osseous heteroplasia
f) ACTH-independent macronodular adrenal hyperplasia
g) 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
Interactions
molecular events
Specific
Gs-alpha
GsL-alpha
GsS-alpha
General
Gs-alpha family
Properties
SIZE: entity length = 394 aa
MW = 46 kD
COMPARTMENT: plasma membrane*
CELL: most cell types*
ORGANISM: eukaryote*
MOTIF: cysteine residue {C3}
MODIFICATION: palmitate
COMPARTMENT: membrane
GTP-binding site
SITE: 47-54
MOTIF: Ser phosphorylation site {S51}
GTP-binding site
SITE: 223-227
GTP-binding site
SITE: 292-295
Database Correlations
OMIM correlations
MORBIDMAP 139320
UniProt P63092
Pfam PF00503
Entrez Gene 2778
Kegg hsa:2778
References
- UniProt :accession P63092
- 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: 2122258
Component-of
Gs-protein (G-stimulatory-protein)