Polycystin-1 - CISMeF

Preferred Label : Polycystin-1;

NCIt synonyms : Autosomal Dominant Polycystic Kidney Disease Protein 1;

NCIt definition : Polycystin-1 (4303 aa, 463 kDa) is encoded by the human PKD1 gene. This protein may play a role in protein-protein and protein-carbohydrate interactions during kidney development.;

Details

Origin ID

C75896;

UMLS CUI

C1679774;

OMIM relation
- Polycystin 1 [OMIM gene]
See also inter- (CISMeF)
- Polycystin 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- PKD1 protein, human [MeSH concept]
- polycystic kidney disease 1 protein [MeSH Supplementary Concept]
- polycystic kidney disease 1 protein [MeSH concept]
Validated automatic mappings to BTNT
- PKD1 protein, human [MeSH concept]
gene_encodes_gene_product
- PKD1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cilium [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Coiled-Coil Domain [NCIt concept]
- Leucine-Rich Repeat [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_malfunction_associated_with_disease
- Polycystic Kidney Disease [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Adhesion Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Organogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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