Proprotein Convertase Subtilisin/Kexin Type 9

Preferred Label : Proprotein Convertase Subtilisin/Kexin Type 9;

NCIt synonyms : Neural Apoptosis-Regulated Convertase 1; Subtilisin/Kexin-Like Protease PC9; Convertase Subtilisin/Kexin Type 9 Preproprotein; EC 3.4.21.-; Neural Apoptosis Regulated Convertase 1; Proprotein Convertase 9; PC9; NARC-1; PCSK9;

NCIt definition : Proprotein convertase subtilisin/kexin type 9 (692 aa, 74 kDa) is encoded by the human PCSK9 gene. This protein is involved in the degradation of low density lipoprotein receptor family proteins.;

NCIt note : Proprotein convertase subtilisin/kexin type 7 releases mature proteins from their proproteins through cleavage of Arg-Xaa-Xaa-Xaa-Yaa-Arg-/-Zaa bonds, where Xaa can be any amino acid and Yaa is Arg or Lys. (UniProt);

Details

Origin ID

C122918;

UMLS CUI

C1174937;

Automatic exact mappings (from CISMeF team)
- PC9 (body structure) [SNOMED CT concept]
- Proprotein Convertase 9 [MeSH concept]
- Proprotein Convertase 9 [MeSH Descriptor]
- Proprotein convertase, subtilisin/kexin-type, 9 [OMIM gene]
- proprotein convertase subtilisin/kexin type 9 [ORDO Gene]
- proprotein convertase subtilisin/kexin type 9 [HGNC gene]
Currated CISMeF NLP mapping
- PCSK9 protein, human [MeSH Supplementary Concept]
OMIM relation
- Proprotein convertase, subtilisin/kexin-type, 9 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- PCSK9 protein, human [MeSH Supplementary Concept]
- PCSK9 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- PCSK9 Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cell Surface [NCIt concept]
- Endoplasmic Reticulum [NCIt concept]
- Endosome [NCIt concept]
- Golgi Apparatus [NCIt concept]
- Lysosome [NCIt concept]
gene_product_has_biochemical_function
- Endopeptidase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cholesterol Homeostasis [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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