DISEASES

Disease-gene associations mined from literature

Literature on DERL1

DERL1 [ENSP00000259512]

Derlin-1; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein . Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation . By controlling the steady- state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway ; Belongs to the derlin family.

Synonyms:  DERL1,  DERL1p,  hDERL1,  A0A024R9G3,  B4E1G1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM