Disease-gene associations mined from literature

Literature associating ZNRF1 and B-cell adult acute lymphocytic leukemia

ZNRF1 [ENSP00000335091]

Zinc and ring finger 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable); Ring finger proteins

Synonyms:  ZNRF1,  ZNRF1p,  hZNRF1,  H3BRB6,  J3KTB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM