Disease-gene associations mined from literature

Literature associating UBR3 and Johanson-Blizzard syndrome

UBR3 [ENSP00000396068]

Ubiquitin protein ligase E3 component n-recognin 3 (putative); E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A; Belongs to the UBR1 family.

Synonyms:  UBR3,  UBR3p,  hUBR3,  DKFZP686N10185,  F8WEB7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM