USP6 wt Allele

Preferred Label : USP6 wt Allele;

NCIt synonyms : Ubiquitin Specific Peptidase 6 wt Allele; TRE-2 Gene; Proto-Oncogene TRE-2; Ubiquitin Specific Protease 6 Gene; TRE17; Tre-2; TRE2; HRP1; Tre-2 Oncogene Gene; TRESMCR; Ubiquitin Specific Protease 6 (Tre-2 Oncogene) Gene; Ubiquitin Specific Peptidase 6 (Tre-2 Oncogene) Gene; TRE Oncogene, Smith Magenis Syndrome Chromosome Region Gene;

NCIt definition : Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.;

NCIt note : In aneurysmal bone cysts, the USP6 gene is translocated to one of five locations. Translocation results in promoter swapping and, subsequently, overexpression of this gene.; Evolutionarily, the USP6 gene is derived from the chimeric fusion of codons 1 to 496 of the TBC1D3 gene and codons 501 to 1406 of the USP32 gene and exists only in Homininae primates. (OMIM);

GenBank Accession Number : NM_004505;

Details

Origin ID

C50378;

UMLS CUI

C1710520;

OMIM relation
- Ubiquitin-specific protease 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q11 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Aneurysmal Bone Cyst [NCIt concept]
- Giant Cell Lesion of Small Bones [NCIt concept]
- Nodular Fasciitis [NCIt concept]
- Tendon Sheath Fibroma [NCIt concept]
gene_is_element_in_pathway
- Arf6 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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