Ataxin-1 - CISMeF

Preferred Label : Ataxin-1;

NCIt synonyms : Ataxin 1; Spinocerebellar Ataxia Type 1 Protein; ATXN1;

NCIt definition : Ataxin-1 (815 aa, 87 kDa) is encoded by the human ATXN1 gene. This protein is involved in chromatin binding, RNA metabolism and Notch signaling.;

NCIt note : CGA repeat expansion within the coding region of the ATXN1 gene encodes an expanded polyglutamine tract in the mutated forms of ataxin-1. Expanded polyglutamine tracts may inhibit RNA binding by and may impair proteasome-mediated degradation of ataxin-1. (OMIM);

Details

Origin ID

C129917;

UMLS CUI

C1568182;

Currated CISMeF NLP mapping
- ATXN1 protein, human [MeSH concept]
- ATXN1 protein, human [MeSH Supplementary Concept]
OMIM relation
- Ataxin 1 [OMIM gene]
See also inter- (CISMeF)
- Ataxin 1 [OMIM gene]
- ataxin 1 [ORDO Gene]
- ataxin 1 [HGNC gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- ATXN1 protein, human [MeSH Supplementary Concept]
- ATXN1 protein, human [MeSH concept]
Validated automatic mappings to NTBT
- Ataxin-1 [MeSH Descriptor]
- ataxin-1 [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ATXN1 Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- RNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Nuclear Localization Signal [NCIt concept]
- RNA Recognition Motif [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients