UCHL1 wt Allele

Preferred Label : UCHL1 wt Allele;

NCIt synonyms : PGP9.5; Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase) wt Allele; PARK5; PGP 9.5; PGP95; Uch-L1;

NCIt definition : Human UCHL1 wild-type allele is located in the vicinity of 4p13 and is approximately 12 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase isozyme L1 protein, is involved in the deubiquitination of proteins. Mutation of the gene is associated with Parkinson disease type 5.;

GenBank Accession Number : BC000332;

Details

Origin ID

C105387;

UMLS CUI

C3541328;

OMIM relation
- Ubiquitin carboxyl-terminal esterase l1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4p13 [NCIt concept]
gene_is_element_in_pathway
- Alpha-Synuclein Signaling Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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