Ubiquitin-associated protein 1 like (UBAP1L)

Ubiquitin-associated protein 1 like (UBAP1L) is a protein encoded by the UBAP1L gene located on chromosome 15. It is predicted to function as an adaptor protein with ubiquitin binding activity and may participate in ubiquitin-dependent protein catabolic processes through multivesicular body sorting. UBAP1L is primarily expressed in the retina, particularly in photoreceptors and retinal pigment epithelium, implicating its importance in retinal biology[1][2][4]. Pathogenic biallelic variants in UBAP1L cause autosomal recessive forms of inherited retinal degeneration, including rod-cone and cone-rod dystrophies. The precise molecular function is not fully elucidated, but the gene product is thought to act in the retina through its ubiquitin-associated domain[2][4]. There are no known drugs or therapeutic compounds specifically interacting with UBAP1L, nor is it considered an established therapeutic target at present.

Other names

Ubiquitin-associated protein 1-likeUBAP1LUBAP-1LUBAP1L proteinUBAP1L gene