Presequence Protease, Mitochondrial

Preferred Label : Presequence Protease, Mitochondrial;

NCIt synonyms : PreP Peptidasome; Metalloprotease 1; hPreP; EC 3.4.24.-; Pitrilysin Metalloproteinase 1; hMP1; Pitrilysin Metallopeptidase 1; Metalloendoprotease 1; Presequence Protease; PITRM1;

NCIt definition : Presequence protease, mitochondrial (1037 aa, 117 kDa) is encoded by the human PITRM1 gene. This protein is involved in the catabolism of mitochondrial peptides.;

NCIt note : Presequence protease, mitochondrial can degrade amyloid beta A4 (APP) protein when it accumulates in mitochondria, which suggests that defects in the activity of this enzyme may be associated with Alzheimer disease. (UniProt);

Details

Origin ID

C131240;

UMLS CUI

C1721286;

Automatic exact mappings (from CISMeF team)
- Charged multivesicular body protein 1a [OMIM gene]
- Pitrilysin metallopeptidase 1 [OMIM gene]
- pitrilysin metallopeptidase 1 [HGNC gene]
OMIM relation
- Pitrilysin metallopeptidase 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- PITRM1 protein, human [MeSH Supplementary Concept]
- PITRM1 protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Metallopeptidase Gene [NCIt concept]
- PITRM1 Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Mitochondrial Matrix [NCIt concept]
gene_product_has_chemical_classification
- Metalloprotein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_biomarker_type
- Metastasis and Aggressiveness Marker [NCIt concept]
gene_product_plays_role_in_biological_process
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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