Torsin-1A - CISMeF

Preferred Label : Torsin-1A;

NCIt synonyms : Torsin 1A; EC 3.6.4.-; Dystonia 1 Protein; Torsin A; Torsin ATPase 1; Torsin Family 1 Member A; TOR1A; Torsin ATPase-1A;

NCIt definition : Torsin-1A (332 aa, 38 kDa) is encoded by the human TOR1A gene. This protein plays a role in protein folding, maturation and localization.;

Details

Origin ID

C142759;

UMLS CUI

C0665823;

Automatic exact mappings (from CISMeF team)
- Torsin 1a [OMIM gene]
- torsin family 1 member A [ORDO Gene]
- torsin family 1 member A [HGNC gene]
OMIM relation
- Torsin 1a [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- TOR1A protein, human [MeSH Supplementary Concept]
- TOR1A protein, human [MeSH concept]
gene_encodes_gene_product
- Chaperone Protein Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- TOR1A Gene [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- Regulatory Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Alpha-Synuclein Signaling Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- ATP Hydrolysis [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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