AZIN1 (Antizyme Inhibitor 1)
Key regulator of polyamine homeostasis and cell proliferation
Gene Information Card
| Symbol | AZIN1 |
|---|---|
| Full Name | Antizyme Inhibitor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 51582 ncbi.nlm.nih.gov/gene/51582 |
| Ensembl ID | ENSG00000155096 |
| UniProt ID | O14977 |
| OMIM ID | 607909 |
| HGNC ID | 16432 |
| Aliases | AZI, OAZIN, ODC1L, MGC126600 |
Description
AZIN1 encodes antizyme inhibitor 1, a protein that binds to and inhibits antizyme, thereby stabilizing ornithine decarboxylase (ODC1) and promoting polyamine synthesis. Polyamines are essential for cell growth and differentiation. AZIN1 is frequently overexpressed or mutated in various cancers, contributing to uncontrolled proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | AZIN1 mutations (e.g., S367G) increase protein stability and ODC1 activity, driving polyamine-dependent proliferation | COSMIC, ClinVar |
| Colorectal cancer | Overexpression of AZIN1 enhances polyamine levels and tumor growth | NCBI Gene, COSMIC |
| Prostate cancer | AZIN1 amplification and elevated expression correlate with aggressive disease | COSMIC, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HeLa | 9.7 | Cervical adenocarcinoma |
| A549 | 7.2 | Lung carcinoma |
| MCF7 | 6.5 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S367G | Missense | <1% | Gain-of-function; increases protein half-life and ODC1 activation |
| R98H | Missense | <0.5% | Unknown functional impact |
| E121K | Missense | <0.1% | Reported in COSMIC; significance unclear |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
S367G mutation enhances AZIN1 stability and ODC1 activation, promoting polyamine synthesis.
Dominant Negative (DN)
Not described for AZIN1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • antizyme inhibitor activity (GO:0016597) |
| • polyamine biosynthetic process (GO:0006596) | • cytosol (GO:0005829) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Regulation of ornithine decarboxylase (ODC1) activity
Protein Summary
AZIN1 is a 448-amino acid protein that shares homology with ODC1 but lacks decarboxylase activity. It acts as a decoy to sequester antizyme, preventing antizyme-mediated degradation of ODC1. This leads to increased polyamine biosynthesis, which supports cell proliferation. AZIN1 is overexpressed in multiple cancers and somatic mutations, such as S367G, are recurrent in hepatocellular carcinoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AZIN1 Knockout HEK293 Cell Line | EDJ-KQ1970 | Human | 51582 | Details Get a Quote |
| AZIN1 Knockout A-549 Cell Line | EDJ-KQ21940 | Human | 51582 | Details Get a Quote |
| AZIN1 Knockout HeLa Cell Line | EDJ-KQ21942 | Human | 51582 | Details Get a Quote |
| AZIN1 Knockout HCT 116 Cell Line | EDJ-KQ20643 | Human | 51582 | Details Get a Quote |
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