AMER1 Gene - APC Membrane Recruitment Protein 1
A tumor suppressor gene involved in Wnt signaling and associated with osteosarcoma and developmental disorders.
Gene Information Card
| Symbol | AMER1 |
|---|---|
| Full Name | APC Membrane Recruitment Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq11.2 |
| NCBI Gene ID | 139285 ncbi.nlm.nih.gov/gene/139285 |
| Ensembl ID | ENSG00000184674 |
| UniProt ID | Q5JTC6 |
| OMIM ID | 300647 |
| HGNC ID | 26837 |
| Aliases | WTX, FLJ13187, MGC138499 |
Description
AMER1 (APC membrane recruitment protein 1), also known as WTX, is a tumor suppressor gene located on the X chromosome. It encodes a protein that negatively regulates the Wnt signaling pathway by promoting the degradation of beta-catenin. AMER1 is frequently mutated in Wilms tumor and osteosarcoma, and germline mutations cause osteopathia striata with cranial sclerosis (OSCS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopathia striata with cranial sclerosis (OSCS) | Loss-of-function mutations in AMER1 disrupt Wnt signaling, leading to skeletal dysplasia and cranial sclerosis. | OMIM #300373 |
| Wilms tumor (nephroblastoma) | Somatic deletions or inactivating mutations of AMER1 result in constitutive Wnt activation, contributing to tumorigenesis. | COSMIC; ClinVar |
| Osteosarcoma | Recurrent somatic mutations and deletions of AMER1 are found in osteosarcoma, promoting tumor growth via Wnt pathway dysregulation. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Bone | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 4.2 | Not detected |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| U2OS | 9.8 | Osteosarcoma cell line |
| HCT 116 | 7.4 | Colorectal carcinoma cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1090C>T (p.Arg364*) | Nonsense | 1.2% | Loss of function; truncated protein |
| c.1456_1457del (p.Leu486fs) | Frameshift | 0.8% | Loss of function; premature stop |
| c.1A>G (p.Met1?) | Missense | 0.3% | Loss of start codon; no protein |
| Whole gene deletion | Deletion | 2.5% | Complete loss of AMER1 |
Mutation functional classification
Loss of Function (LOF)
Most AMER1 mutations are loss-of-function (nonsense, frameshift, deletions), leading to reduced or absent protein and constitutive Wnt signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in AMER1.
Dominant Negative (DN)
No dominant-negative mutations reported; AMER1 acts as a haploinsufficient tumor suppressor.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • Wnt signaling pathway (GO:0016055) | • negative regulation of Wnt signaling pathway (GO:0030178) |
| • metal ion binding (GO:0046872) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Beta-catenin destruction complex (Reactome: R-HSA-4641263)
Protein Summary
The AMER1 protein (UniProt Q5JTC6) is a 1135-amino acid cytoplasmic protein that recruits APC to the membrane and facilitates beta-catenin degradation. It contains a coiled-coil domain and multiple phosphorylation sites. Loss of AMER1 leads to nuclear accumulation of beta-catenin and activation of Wnt target genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMER1 Knockout HEK293 Cell Line | EDJ-KQ1998 | Human | 139285 | Details Get a Quote |
| AMER1 Knockout A-549 Cell Line | EDJ-KQ22002 | Human | 139285 | Details Get a Quote |
| AMER1 Knockout HeLa Cell Line | EDJ-KQ22004 | Human | 139285 | Details Get a Quote |
| AMER1 Knockout HCT 116 Cell Line | EDJ-KQ20703 | Human | 139285 | Details Get a Quote |
