PSMC3 wt Allele

Preferred Label : PSMC3 wt Allele;

NCIt synonyms : TBP1; Proteasome (Prosome, Macropain) 26S Subunit, ATPase, 3 Gene; DCIDP; RPT5; Proteasome 26S Subunit, ATPase 3 wt Allele; Proteasome 26S Subunit, ATPase, 3 Gene;

NCIt definition : Human PSMC3 wild-type allele is located in the vicinity of 11p11.2 and is approximately 8 kb in length. This allele, which encodes 26S proteasome regulatory subunit 6A protein, is involved in the degradation of ubiquitinated proteins. Mutation of the gene is associated with autosomal recessive deafness, cataract, impaired intellectual development and polyneuropathy (DCIDP).;

NCI Metathesaurus CUI : CL1773160;

GenBank Accession Number : M34079;

Details

Origin ID

C184994;

UMLS CUI

C5575469;

Automatic exact mappings (from CISMeF team)
- Proteasome 26s subunit, atpase, 3 [OMIM gene]
OMIM relation
- Proteasome 26s subunit, atpase, 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- Proteasome Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cell Cycle Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]

Keyword's position in hierarchy(ies) :

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