PKD1L1 wt Allele

Preferred Label : PKD1L1 wt Allele;

NCIt synonyms : UNQ5785/PRO19563; Polycystin 1-Like 1 Gene; Polycystic Kidney Disease 1 Like 1 wt Allele; PRO19563;

NCIt definition : Human PKD1L1 wild-type allele is located in the vicinity of 7p12.3 and is approximately 174 kb in length. This allele, which encodes polycystic kidney disease protein 1-like 1 protein, plays a role in the modulation of ciliary calcium concentration.;

NCIt note : There is a report of a chromosomal aberration involving the BBS9 gene and the PKD1L1 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AB061683;

Details

Origin ID

C114554;

UMLS CUI

C3889638;

Automatic exact mappings (from CISMeF team)
- polycystin 1 like 1, transient receptor potential channel interacting [ORDO Gene]
OMIM relation
- Polycystin 1-like 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_plays_role_in_process
- Facilitated Diffusion [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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