Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short

Preferred Label : Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short;

NCIt synonyms : Adenylate Cyclase-Stimulating G Alpha Protein; GNAS; G(s) Alpha;

NCIt definition : Guanine nucleotide-binding protein G(s) subunit alpha isoforms short (394 aa, 46 kDa) is encoded by the human GNAS gene. This protein plays a role in the activation of adenylate cyclase activity.;

NCI Metathesaurus CUI : CL505023;

Details

Origin ID

C126519;

UMLS CUI

C4285065;

OMIM relation
- Gnas complex locus [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- GNAS Gene [NCIt concept]
- Signaling Pathway Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_biochemical_function
- GTPase [NCIt concept]
gene_product_has_gene_product_variant
- GNAS NP_000507.1:p.Q125R [NCIt concept]
- GNAS NP_000507.1:p.Q227E [NCIt concept]
- GNAS NP_000507.1:p.Q227L [NCIt concept]
- GNAS NP_000507.1:p.Q227P [NCIt concept]
- GNAS NP_000507.1:p.Q227R [NCIt concept]
- GNAS NP_000507.1:p.R160C [NCIt concept]
- GNAS NP_000507.1:p.R201C [NCIt concept]
- GNAS NP_000507.1:p.R201H [NCIt concept]
- GNAS NP_000507.1:p.R201S [NCIt concept]
gene_product_is_element_in_pathway
- Attenuation of GPCR Signaling Pathway [NCIt concept]
- CCR3 Signaling Pathway [NCIt concept]
- CFTR Pathway [NCIt concept]
- CREB Activation Signaling Pathway [NCIt concept]
- CSK Protein Kinase Activation Pathway [NCIt concept]
- ChREBP Pathway [NCIt concept]
- Corticosteroid Cardioprotection Pathway [NCIt concept]
- Erk1/Erk2 MAPK Signaling Pathway [NCIt concept]
- G-Protein Signaling Pathway [NCIt concept]
- GPCR Desensitization Pathway [NCIt concept]
- GPCR Signaling Pathway [NCIt concept]
- Ion Channels in Vascular Endothelium Pathway [NCIt concept]
- MAP Kinase Activation Pathway [NCIt concept]
- Oocyte Maturation Pathway [NCIt concept]
- Phospholipase C-Epsilon Signaling Pathway [NCIt concept]
- Protein Kinase A Activation Pathway [NCIt concept]
- Spermatogenesis Regulation Pathway [NCIt concept]
gene_product_is_physical_part_of
- Heterotrimeric G Protein [NCIt concept]
gene_product_plays_role_in_biological_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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