NP_536350.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
45,665 Da
NCBI Official Full Name
protein GNAS isoform XLas
NCBI Official Synonym Full Names
GNAS complex locus
NCBI Official Synonym Symbols
AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; C20orf45 [Similar Products]
NCBI Protein Information
protein ALEX; protein GNAS; protein SCG6 (secretogranin VI)
UniProt Protein Name
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
UniProt Synonym Protein Names
Adenylate cyclase-stimulating G alpha protein; Extra large alphas protein; XLalphas
UniProt Synonym Gene Names
UniProt Entry Name
GNAS1_HUMAN
NCBI Summary for GNAS
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 contain 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, Aug 2012]
UniProt Comments for GNAS
G-alpha(s) iso4: a guanine nucleotide-binding protein of the G12 class of G-alpha proteins. Agonist binding to Gq-coupled receptors may block Akt activation via the release of active G-alpha(q) subunits that inhibit phosphatidylinositol 3-kinase. Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
Protein type: Membrane protein, peripheral; G protein; G protein, heterotrimeric alpha G(s); Vesicle; Oncoprotein; G protein, heterotrimeric
Chromosomal Location of Human Ortholog: 20q13.3
Cellular Component: ruffle; transport vesicle; membrane; perinuclear region of cytoplasm; dendrite; cytoplasm; plasma membrane; extracellular region; heterotrimeric G-protein complex; intrinsic to membrane; trans-Golgi network membrane; nucleus; cytosol
Molecular Function: GTPase activity; corticotropin-releasing hormone receptor 1 binding; insulin-like growth factor receptor binding; ionotropic glutamate receptor binding; signal transducer activity; protein binding; GTP binding; mu-type opioid receptor binding; metal ion binding; G-protein beta/gamma-subunit binding; beta-2 adrenergic receptor binding; D1 dopamine receptor binding; adenylate cyclase activity
Biological Process: developmental growth; positive regulation of osteoclast differentiation; water transport; protein secretion; female pregnancy; embryonic hindlimb morphogenesis; G-protein signaling, adenylate cyclase activating pathway; intracellular transport; positive regulation of cAMP biosynthetic process; DNA methylation; tissue homeostasis; transmembrane transport; endochondral ossification; post-embryonic body morphogenesis; dopamine receptor, adenylate cyclase activating pathway; response to drug; sensory perception of chemical stimulus; negative regulation of multicellular organism growth; multicellular organism growth; adenylate cyclase activation; sensory perception of smell; embryonic cranial skeleton morphogenesis; positive regulation of osteoblast differentiation; cartilage development; energy reserve metabolic process; renal water homeostasis; cAMP biosynthetic process; cognition; blood coagulation; regulation of insulin secretion
Disease: Acth-independent Macronodular Adrenal Hyperplasia; Pseudohypoparathyroidism, Type Ib
Research Articles on GNAS
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Pathways associated with GNAS sirna
Diseases associated with GNAS sirna
Organs/Tissues associated with GNAS sirna
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