Aliases for AZIN1 Gene
External Ids for AZIN1 Gene
Previous HGNC Symbols for AZIN1 Gene
Previous GeneCards Identifiers for AZIN1 Gene
The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for AZIN1 Gene
AZIN1 (Antizyme Inhibitor 1) is a Protein Coding gene. Diseases associated with AZIN1 include hepatocellular carcinoma. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include enzyme inhibitor activity and ornithine decarboxylase activator activity. An important paralog of this gene is AZIN2.
UniProtKB/Swiss-Prot for AZIN1 Gene
Antizyme inhibitor protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake by counteracting the negative effect of antizyme OAZ1, OAZ2 and OAZ3 on ODC1 activity (PubMed:17900240). Inhibits antizyme-dependent ODC degradation by binding to antizymes. Releases ODC1 from its inactive complex with antizymes, leading to formation of the catalytically active ODC1.