PRKAR1A wt Allele

Preferred Label : PRKAR1A wt Allele;

NCIt synonyms : Carney Complex Type 1 Gene; ADOHR; TSE1; CNC1; Protein Kinase A Type 1a Regulatory Subunit Gene; DKFZp779L0468; CNC; MGC17251; PPNAD1; CAR; PRKAR1; PKR1; Protein Kinase A, RI-Alpha Subunt Gene; cAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain Gene; Tissue Specific Extinguisher 1 Gene; Protein Kinase, cAMP-Dependent, Regulatory, Type I, Alpha (Tissue Specific Extinguisher 1) Gene; ACRDYS1; Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha wt Allele; Protein Kinase, cAMP-Dependent, Regulatory Subunit Type I Alpha Gene; Protein Kinase, cAMP-Dependent, Regulatory, Type I, Alpha Gene; Prkar1alpha; cAMP-Dependent Protein Kinase Regulatory Subunit RIalpha Gene;

NCIt definition : Human PRKAR1A wild-type allele is located within 17q23-q24 and is approximately 21 kb in length. This allele, which encodes cAMP-dependent protein kinase type I-alpha regulatory subunit protein, is involved in the modulation of protein kinase A activation. Mutation of the gene is associated with Carney complex type 1, intracardiac myxoma, and primary pigmented nodular adrenocortical disease type 1. Papillary thyroid carcinoma is associated with a chromosomal translocation of this gene and the RET gene. A chromosomal aberration affecting this gene and the RARA gene is associated with acute promyelocytic leukemia.;

GenBank Accession Number : NM_002734;

Details

Origin ID

C97743;

UMLS CUI

C3273602;

OMIM relation
- Protein kinase, camp-dependent, regulatory, type I, alpha [OMIM gene]
See also inter- (CISMeF)
- Pigmented nodular adrenocortical disease, primary, 1 [OMIM Phenotype]
- pigmented nodular adrenocortical disease, primary, 1 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q23-q24 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Carney Complex [NCIt concept]
- Melanotic Schwannoma [NCIt concept]
- PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
- Attenuation of GPCR Signaling Pathway [NCIt concept]
- BAD Regulation Pathway [NCIt concept]
- CARM1 Transcription Regulation Pathway [NCIt concept]
- CFTR Pathway [NCIt concept]
- CK1/CDK5 Regulation Pathway [NCIt concept]
- CREB Activation Signaling Pathway [NCIt concept]
- CSK Protein Kinase Activation Pathway [NCIt concept]
- Calpain-2 Cell Motility Pathway [NCIt concept]
- ChREBP Pathway [NCIt concept]
- G-Protein Signaling Pathway [NCIt concept]
- IGF1R Antiapoptosis Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- NFAT Pathway [NCIt concept]
- Nitric Oxide Pathway [NCIt concept]
- Nitric Oxide Signaling Pathway [NCIt concept]
- Oocyte Maturation Pathway [NCIt concept]
- PPAR-alpha Gene Regulation Pathway [NCIt concept]
- Pain Repression Pathway [NCIt concept]
- Phospholipase C-Epsilon Signaling Pathway [NCIt concept]
- Protein Kinase A Activation Pathway [NCIt concept]
- Sonic Hedgehog Pathway [NCIt concept]
- Stathmin Pathway [NCIt concept]
- T-Cell Antiapoptosis Pathway [NCIt concept]
- Th2 Cytokine Gene Induction Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Protein Kinase Protein Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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