Entrez gene ID | | 29979 |
Official gene symbol | | UBQLN1 |
Full name | | ubiquilin 1 |
Aliases | | ,DA41,DSK2,FLJ90054,PLIC-1,UBQN,XDRP1, |
Gene summary | | This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q22|9q21.2-q21.3 |
Gene position | | 86323168 - 86274878 Map Viewer |
Gene orientation | | minus |
Gene size | | 48291 bp |
Gene sequence |
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OMIM ID | | 605046 |
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