EDK
Editome Disease Knowledgebase
WT1
| Gene symbol | WT1 |
|---|---|
| Aliases | - |
| Protein Name | Wilms tumor protein |
| Function | It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Acute Myeloid Leukemia; |
| Description | WT1 is a regulatory protein with dual tumor suppressor/oncogene activity depending on the isoforms expressed, including the Lys-Thr-Ser (KTS) variant. WT1 splicing variants with excluded tripeptide (-KTS) mainly act as transcriptional regulators, while the isoforms retaining the tripeptide (+KTS) show post-transcriptional activity. Wilms Tumor 1 (WT1) mutations and variants are implicated in several diseases, including Wilms tumor and acute myeloid leukemia (AML). |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P19544(Uniport); NM_000378 (NM id); 7490 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|
|
G-to-A | NA | 1303 | Nonsynonymous substitution | Present | Blood | WT1 mutations affect the zinc finger (ZnF) domains in Wilms tumor and acute myeloid leukemia (AML). | Induce mutation of wilms tumor and acute myeloid leukemia |