DISEASES

Disease-gene associations mined from literature

Literature associating HUWE1 and Pelizaeus-Merzbacher disease

HUWE1 [ENSP00000340648]

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation. Mediates polyubiquitination of isoform 2 of PA2G4; Belongs to the UPL family. TOM1/PTR1 subfamily.

Synonyms:  HUWE1,  HUWE1p,  hHUWE1,  A0A024R9U8,  A0A024R9W5 ...

Linkouts:  STRING  Pharos  UniProt