Aliases for ZNRF1 Gene
External Ids for ZNRF1 Gene
Previous GeneCards Identifiers for ZNRF1 Gene
This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]
GeneCards Summary for ZNRF1 Gene
ZNRF1 (Zinc And Ring Finger 1) is a Protein Coding gene. Diseases associated with ZNRF1 include B-Cell Adult Acute Lymphocytic Leukemia. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is ZNRF2.
UniProtKB/Swiss-Prot for ZNRF1 Gene
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).