Disease-gene associations mined from literature

Literature associating SYVN1 and Wolfram syndrome

SYVN1 [ENSP00000366395]

RING-type E3 ubiquitin transferase synoviolin; Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation. Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis; Belongs to the HRD1 family.

Synonyms:  SYVN1,  MIR6751,  SYVN1p,  hSYVN1,  E9PK19 ...

Linkouts:  STRING  Pharos  UniProt  OMIM