PDZK1 wt Allele

Preferred Label : PDZK1 wt Allele;

NCIt synonyms : PDZD1; NHERF3; CLAMP; PDZ Domain Containing 1 wt Allele; NHERF-3; PDZ Domain-Containing 1 Gene; CAP70;

NCIt definition : Human PDZK1 wild-type allele is located in the vicinity of 1q21 and is approximately 37 kb in length. This allele, which encodes Na( )/H( ) exchange regulatory cofactor NHE-RF3 protein, is involved in the modulation of ion channel and signaling protein localization. Variations and aberrant expression of this gene may be associated with metabolic syndrome and drug resistance of multiple myeloma, respectively.;

GenBank Accession Number : AF012281;

Details

Origin ID

C114323;

UMLS CUI

C3810601;

Automatic exact mappings (from CISMeF team)
- Application of clamp (procedure) [SNOMED CT concept]
- CLAMP [Cladimed Component]
- CLAMP [Cladimed Sub-Gamm]
- Clamp, device (physical object) [SNOMED CT concept]
- Clamping [ICNP action]
- Pdz domain-containing 1 [OMIM gene]
- Sperm flagellar protein 1 [OMIM gene]
- clamp [Radlex concept]
- clamp [Artificial nutrition thesaurus concept]
- clamping [MeSH concept]
- constriction [MeSH Descriptor]
OMIM relation
- Pdz domain-containing 1 [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
- 1q21 [NCIt concept]
gene_is_element_in_pathway
- MTA3 Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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