STUB1 wt Allele

Preferred Label : STUB1 wt Allele;

NCIt synonyms : CHIP; SCA48; NY-CO-7; UBOX1; PP1131; Serologically Defined Colon Cancer Antigen 7 Gene; SDCCAG7; STIP1 Homology and U-Box Containing Protein 1 wt Allele; STIP1 Homology and U-Box Containing Protein 1, E3 Ubiquitin Protein Ligase Gene; SCAR16; STIP1 Homologous and U Box-Containing Protein 1 Gene; STIP1 Homologous and U-Box Containing Protein 1 Gene; HSPABP2; Heat Shock Protein A Binding Protein 2 (C-Terminal) Gene;

NCIt definition : Human STUB1 wild-type allele is located in the vicinity of 16p13.3 and is approximately 3 kb in length. This allele, which encodes E3 ubiquitin-protein ligase CHIP protein, is involved in the ubiquitination of misfolded chaperone proteins. Mutations in the gene are associated with autosomal recessive spinocerebellar ataxia 16 and autosomal dominant spinocerebellar ataxia 48.;

GenBank Accession Number : AF039689;

Details

Origin ID

C208035;

OMIM relation
- Stip1 homologous and u box-containing protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_is_element_in_pathway
- Alpha-Synuclein Signaling Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Heat-Shock Response [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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