Fibrocystin - CISMeF

Preferred Label : Fibrocystin;

NCIt synonyms : Polyductin; Tigmin; Polycystic Kidney and Hepatic Disease 1 Protein; PKHD1;

NCIt definition : Fibrocystin (4074 aa, 447 kDa) is encoded by the human PKHD1 gene. This protein may be involved in receptor signaling that promotes differentiation of the kidney and biliary system.;

NCIt note : Fibrocystin may undergo processing similar to Notch family proteins, including posttranslational convertase cleavage yielding a mature two chain form, followed by transmembrane domain shedding and gamma-secretase-dependent release of a intracellular carboxyl-terminal fragment that translocates to the nucleus. (OMIM);

NCI Metathesaurus CUI : CL552126;

Details

Origin ID

C150300;

UMLS CUI

C4724210;

Automatic exact mappings (from CISMeF team)
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
False automatic mappings
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- autosomal recessive polycystic kidney disease [DO Concept]
OMIM relation
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
gene_encodes_gene_product
- PKHD1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_expressed_in_tissue
- Collecting Tube [NCIt concept]
- Hepatic Tissue [NCIt concept]
- Renal Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Basal Body [NCIt concept]
- Centromere [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Homeostatic Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Stimulation of Cell Proliferation [NCIt concept]

Keyword's position in hierarchy(ies) :

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