Gene Symbol | WT1 |
Entrez Gene ID | 7490 |
Full Name | Wilms tumor 1 |
Synonyms | AWT1,GUD,NPHS4,WAGR,WIT-2,WT33 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]. |
Disorder MIM: | |
Disorder Html: | Wilms tumor, type 1, 194070 (3); Denys-Drash syndrome, 194080 (3); Nephrotic syndrome, type 4, 256370 (3); Frasier syndrome, 136680 (3); Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3) |