Human Gene ZNRF1 (ENST00000567962.5) Description and Page Index
Description: 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). (from UniProt Q8ND25) Gencode Transcript: ENST00000567962.5 Gencode Gene: ENSG00000186187.12 Transcript (Including UTRs) Position: hg38 chr16:74,999,345-75,108,028 Size: 108,684 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr16:74,999,672-75,106,539 Size: 106,868 Coding Exon Count: 4
ModBase Predicted Comparative 3D Structure on Q8ND25
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