PRKD1 wt Allele

Preferred Label : PRKD1 wt Allele;

NCIt synonyms : Protein Kinase C, Mu Gene; PKCM; Protein Kinase D1 wt Allele; PRKCM; PKD; PKC-MU; PKD1; CHDED;

NCIt definition : Human PRKD1 wild-type allele is located in the vicinity of 14q11 and is approximately 351 kb in length. This allele, which encodes serine/threonine-protein kinase D1 protein, is involved in the regulation of second messenger-dependent protein phosphorylation.;

GenBank Accession Number : NM_002742;

Details

Origin ID

C95257;

UMLS CUI

C2987024;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant polycystic kidney disease [ORDO Disease]
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- Polycystic kidney disease 1 with or without polycystic liver disease [OMIM Phenotype]
- Polycystin 1 [OMIM gene]
- Protein kinase d1 [OMIM gene]
- polycystic kidney disease 1 [DO Concept]
- polycystin 1, transient receptor potential channel interacting [ORDO Gene]
- protein kinase D [MeSH Supplementary Concept]
- protein kinase D1 [ORDO Gene]
OMIM relation
- Protein kinase d1 [OMIM gene]
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
- 14q11 [NCIt concept]
gene_is_element_in_pathway
- IGF1 Pathway [NCIt concept]
- Lysophosphatidic Acid Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients