SEL1L adaptor subunit of ERAD E3 ubiquitin ligase (SEL1L)

SEL1L adaptor subunit of ERAD E3 ubiquitin ligase (SEL1L) is a protein integral to the endoplasmic reticulum-associated degradation (ERAD) pathway, which is responsible for recognizing, retrotranslocating, and targeting misfolded or aberrant proteins within the endoplasmic reticulum (ER) for proteasomal degradation in the cytosol in a ubiquitin-dependent manner. SEL1L forms part of a complex with other proteins, including SYVN1 (also known as HRD1), acting as a scaffold and adaptor within the ERAD machinery. This process is essential for cellular protein quality control and is crucial in tissues with high protein synthesis such as the pancreas, supporting normal development and exocrine function. SEL1L has been implicated in Notch signaling and may participate in regulatory responses to ER stress. Pathogenic variants in SEL1L cause human neurodevelopmental disorders with multiorgan manifestations. No drugs specifically targeting SEL1L are currently known, and thus interacting drugs and specific mechanisms of drug action, as well as biomarker candidates for direct clinical use, have not been established in available literature. Disease involvement is mostly based on its role in neurodevelopment and protein quality control; broader implications are suggested but not yet established in other disease areas.

Other names

SEL1L1Hrd3SEL1L adaptor subunit of SYVN1 ubiquitin ligaseSEL1LERAD E3 ligase adaptor subunitSuppressor of lin-12-like protein 1Protein sel-1 homolog 1IBD2Suppressor of lin 12 (Sel-1), C. elegans, homolog ofsel-1 suppressor of lin-12-like 1 (C. elegans)