AlphaFold predicted structure
WT1 · P19544
Mean pLDDT
50.8/ 100
Low
449 residues
Confidence breakdown
- Very high(≥ 90)9%
- Confident(70–90)19%
- Low(50–70)7%
- Very low(< 50)65%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
WT1
Chr 11p13WT1 transcription factor
- Aliases:
- WAGR, WIT-2, AWT1, NPHS4, WT-1
- MANE:
- ENST00000452863.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDifferences in sex development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEmbryonal tumour of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Denys-Drash syndrome
0.85Wilms tumor 1
0.83Frasier syndrome
0.79nephrotic syndrome, type 4
0.79Meacham syndrome
0.75malignant mesothelioma
0.66Nephroblastoma
0.65familial idiopathic steroid-resistant nephrotic syndrome
0.62Wilms tumor
0.57WAGR syndrome
0.57
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Wilms tumor protein
Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:25258363, PubMed:7862533). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. 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 (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921)
Diseases associated with WT1
Curated MONDO disease pages that list WT1 among their top associated genes.