Exostosin-1 - CISMeF

Preferred Label : Exostosin-1;

NCIt synonyms : Exostoses (multiple) 1; EXT1; Multiple Exostoses Protein 1; EC 2.4.1.225; Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase; Putative Tumor Suppressor Protein EXT1; EC 2.4.1.224; Exostosin 1; Exostosin Glycosyltransferase 1;

NCIt definition : Exostosin-1 (746 aa, 86 kDa) is encoded by the human EXT1 gene. This protein is involved in the biosynthesis of glycosaminoglycans, bone formation and embryonic development.;

Details

Origin ID

C18050;

UMLS CUI

C1744253;

Currated CISMeF NLP mapping
- exostosin-1 [MeSH concept]
- exostosin-1 [MeSH Supplementary Concept]
OMIM relation
- Exostosin glycosyltransferase 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- EXT1 protein, human [MeSH concept]
- exostosin-1 [MeSH Supplementary Concept]
- exostosin-1 [MeSH concept]
gene_encodes_gene_product
- EXT1 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Glycosyltransferase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Endoplasmic Reticulum [NCIt concept]
- Golgi Apparatus [NCIt concept]
gene_product_has_chemical_classification
- Glycoprotein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_product_malfunction_associated_with_disease
- Hereditary Multiple Exostoses [NCIt concept]
gene_product_plays_role_in_biological_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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