Multimerin-1 - CISMeF

Preferred Label : Multimerin-1;

NCIt synonyms : Platelet Glycoprotein Ia*; Elastin Microfibril Interfacer 4; Glycoprotein Ia*; Multimerin 1; Elastin Microfibril Interface Located Protein 4; Multimerin; Endothelial Cell Multimerin; MMRN1; EMILIN-4;

NCIt definition : Multimerin-1 (1228 aa, 138 kDa) is encoded by the human MMRN1 gene. This protein is involved in stabilization of platelet-bound factor V/Va.;

NCIt note : Multimerin-1 deficiency is associated with Quebec platelet disorder (factor V Quebec). This deficiency is presumably caused by excessive levels of platelet protein degradation by activated plasmin, which results from the overexpression of urokinase-type plasminogen activator (PLAU) in alpha granules. (OMIM);

Details

Origin ID

C115184;

UMLS CUI

C3888341;

Automatic exact mappings (from CISMeF team)
- multimerin [MeSH Supplementary Concept]
- multimerin [MeSH concept]
OMIM relation
- Multimerin 1 [OMIM gene]
See also inter- (CISMeF)
- Multimerin 1 [OMIM gene]
- multimerin 1 [HGNC gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- MMRN1 Gene [NCIt concept]
gene_product_expressed_in_tissue
- Platelet [NCIt concept]
gene_product_has_associated_anatomy
- Alpha Granule [NCIt concept]
- Extracellular Space [NCIt concept]
gene_product_has_structural_domain_or_motif
- Coiled-Coil Domain [NCIt concept]
- EGF-Like Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Platelet Activation [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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