Aliases for UBQLN1 Gene
External Ids for UBQLN1 Gene
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, Jul 2008]
GeneCards Summary for UBQLN1 Gene
UBQLN1 (Ubiquilin 1) is a Protein Coding gene. Diseases associated with UBQLN1 include brown-vialetto-van laere syndrome and alzheimer disease. Among its related pathways are CXCR4-mediated signaling events and Protein processing in endoplasmic reticulum. GO annotations related to this gene include kinase binding. An important paralog of this gene is UBQLN3.
UniProtKB/Swiss-Prot for UBQLN1 Gene
Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors. Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1 and PSEN2 degradation