Ataxin-3 - CISMeF

Preferred Label : Ataxin-3;

NCIt synonyms : EC 3.4.19.12; Josephin; Machado-Joseph Disease Protein 1; Ataxin 3; Spinocerebellar Ataxia Type 3 Protein; ATXN3;

NCIt definition : Ataxin-3 (361 aa, 41 kDa) is encoded by the human ATXN3 gene. This protein plays a role in deubiquitinase activity towards polyubiquitinated proteins.;

Details

Origin ID

C192708;

UMLS CUI

C0294917;

OMIM relation
- Ataxin 3 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- ATXN3 protein, human [MeSH Supplementary Concept]
- ATXN3 protein, human [MeSH concept]
gene_encodes_gene_product
- ATXN3 Gene [NCIt concept]
- Cysteine Peptidase Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- Ubiquitin C-Terminal Hydrolase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Neurodegenerative Disorders Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Regulation of Proteolysis [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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