DISEASES

Disease-gene associations mined from literature

Literature associating UBE3C and distal hereditary motor neuronopathy type 1

UBE3C [ENSP00000309198]

HECT-type ubiquitin transferase E3C; E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo.

Synonyms:  UBE3C,  UBE3Cp,  hUBE3C,  H7C0Y1,  Q15386 ...

Linkouts:  STRING  Pharos  UniProt  OMIM