DISEASES

Disease-gene associations mined from literature

Literature on HECTD1

HECTD1 [ENSP00000382269]

E3 ubiquitin-protein ligase HECTD1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys- 63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure. ; Belongs to the UPL family. K-HECT subfamily.

Synonyms:  HECTD1,  HECTD1p,  hHECTD1,  A0A087WVU6,  A0A087X2H1 ...

Linkouts:  STRING  Pharos  UniProt