Myotubularin - CISMeF

Preferred Label : Myotubularin;

NCIt synonyms : EC 3.1.3.95; EC 3.1.3.64; Myotubularin 1; Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase; Phosphatidylinositol-3-Phosphate Phosphatase; MTM1;

NCIt definition : Myotubularin (603 aa, 70 kDa) is encoded by the human MTM1 gene. This protein plays a role in catalyzing the dephosphorylation of phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2).;

Details

Origin ID

C203824;

UMLS CUI

C1741129;

OMIM relation
- Myotubularin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- MTM1 protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Esterase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- MTM1 Gene [NCIt concept]
- Phosphatase Family Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Late Endosome [NCIt concept]
gene_product_has_biochemical_function
- Hydrolase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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