PRKG1 wt Allele

Preferred Label : PRKG1 wt Allele;

NCIt synonyms : PKG; cGMP-Dependent Protein Kinase, Type I, Beta Gene; PGK; Protein Kinase, cGMP-Dependent, Regulatory, Type I, Alpha Gene; cGKI-BETA; Protein Kinase, cGMP-Dependent, Type I wt Allele; AAT8; cGK; cGK1; PRKG1B; cGKI-Alpha; cGK 1; Protein Kinase, cGMP-Dependent, Regulatory, Type I, Beta Gene; cGKI; Protein Kinase, cGMP-Dependent, Regulatory, Type I Gene; PRKGR1B; cGMP-Dependent Protein Kinase, Type I, Alpha Gene;

NCIt definition : Human PRKG1 wild-type allele is located in the vicinity of 10q11.2 and is approximately 1307 kb in length. This allele, which encodes cGMP-dependent protein kinase 1 protein, plays a role in both protein phosphorylation and nitric oxide signaling. Mutation of the gene is associated with familial thoracic aortic aneurysm type 8.;

NCIt note : This gene encodes at least three isoforms produced by alternative splicing.;

GenBank Accession Number : NM_001098512;

Details

Origin ID

C125496;

UMLS CUI

C4084713;

Automatic exact mappings (from CISMeF team)
- Aortic aneurysm, familial thoracic 8 [OMIM Phenotype]
- Peroxisome biogenesis disorder 13a (zellweger) [OMIM Phenotype]
- Phosphoglycerate kinase [LOINC component]
- Protein kinase, cgmp-dependent, regulatory, type I [OMIM gene]
- cGKIbeta [MeSH concept]
- cGMP-dependent protein kinase activity [GO term]
- cyclic GMP-Dependent protein kinase type I [MeSH Descriptor]
- phosphoglycerate kinase [MeSH Descriptor]
- phosphoglycerate kinase activity [GO term]
- protein kinase cGMP-dependent 1 [ORDO Gene]
- protein kinase modulator [MeSH Supplementary Concept]
OMIM relation
- Protein kinase, cgmp-dependent, regulatory, type I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q11.2 [NCIt concept]
gene_is_element_in_pathway
- Gap Junction Assembly Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
- Olfactory Transduction Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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