AXIN1 Gene: Axis Inhibition Protein 1
Key regulator of the Wnt/β-catenin signaling pathway and tumor suppressor
Gene Information Card
| Symbol | AXIN1 |
|---|---|
| Full Name | Axis Inhibition Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 8312 ncbi.nlm.nih.gov/gene/8312 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | O15169 |
| OMIM ID | 603816 |
| HGNC ID | 903 |
| Aliases | AXIN, PPP1R49, MGC5232 |
Description
AXIN1 (Axis Inhibition Protein 1) is a tumor suppressor gene that encodes a key scaffold protein in the Wnt/β-catenin signaling pathway. It negatively regulates the pathway by facilitating the phosphorylation and degradation of β-catenin via the destruction complex. Loss-of-function mutations in AXIN1 lead to constitutive Wnt signaling and are frequently observed in hepatocellular carcinoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss-of-function mutations impair β-catenin degradation, leading to nuclear accumulation and transcriptional activation of Wnt target genes. | ClinVar, COSMIC |
| Colorectal cancer | AXIN1 mutations contribute to Wnt pathway activation, often in tumors without APC mutations. | COSMIC, NCBI |
| Medulloblastoma | Somatic AXIN1 mutations are found in a subset of WNT-subtype medulloblastomas. | COSMIC, OMIM |
| Hepatoblastoma | AXIN1 mutations are associated with β-catenin stabilization and tumorigenesis. | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Colon | 6.5 | Medium |
| Brain | 5.1 | Low |
| Kidney | 4.8 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.3 | Hepatocellular carcinoma cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| HCT116 | 8.1 | Colorectal carcinoma cell line |
| MCF7 | 6.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1975C>T (p.Arg659*) | Nonsense | 2.5% in HCC | Loss of function; truncation of C-terminal domain |
| c.2140_2141del (p.Leu714fs) | Frameshift | 1.8% in HCC | Loss of function; premature termination |
| c.1660G>A (p.Gly554Ser) | Missense | 0.5% in colorectal cancer | Likely loss of function; disrupts β-catenin binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Most AXIN1 mutations are loss-of-function, leading to impaired β-catenin degradation and constitutive Wnt signaling.
Gain of Function (GOF)
No gain-of-function mutations are reported for AXIN1.
Dominant Negative (DN)
Some truncating mutations may exert dominant-negative effects by interfering with wild-type AXIN1 in the destruction complex.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • Wnt signaling pathway (GO:0016055) | • β-catenin destruction complex (GO:0030879) |
| • transcription regulatory region DNA binding (GO:0044212) |
Pathways
• Wnt/β-catenin signaling pathway (KEGG: hsa04310)
• Hepatocellular carcinoma pathway (KEGG: hsa05225)
• Colorectal cancer pathway (KEGG: hsa05210)
Protein Summary
AXIN1 is a 862-amino acid scaffold protein that forms the core of the β-catenin destruction complex, along with APC, GSK3B, and CK1. It contains domains for binding β-catenin, GSK3B, and itself (dimerization). The protein is essential for regulating cytoplasmic β-catenin levels; loss of AXIN1 function results in β-catenin stabilization and activation of Wnt target genes, promoting oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AXIN1 Knockout HEK293 Cell Line | EDJ-KQ278 | Human | 8312 | Details Get a Quote |
| AXIN1 Knockout HCT 116 Cell Line | EDJ-KQ17961 | Human | 8312 | Details Get a Quote |
| AXIN1 Knockout HeLa Cell Line | EDJ-KQ18336 | Human | 8312 | Details Get a Quote |
| AXIN1 Knockout A-549 Cell Line | EDJ-KQ18383 | Human | 8312 | Details Get a Quote |
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