Wilms Tumor Protein Blocking Peptide

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 Wilm's tumors. 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 site 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, Oct 2010]

WT1: a DNA binding protein and apparent transcriptional regulator. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. Expressed in the kidney and a subset of hematopoietic cells. Defects in WT1 are the cause of Wilms tumor 1 (WT1), an embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. Four alternatively spliced isoforms have been described.

Protein type: Transcription factor; DNA-binding; Tumor suppressor; Nucleolus; C2H2-type zinc finger protein

Chromosomal Location of Human Ortholog: 11p13

Cellular Component: nucleoplasm; cytoplasm; nucleolus; nuclear speck; nucleus

Molecular Function: protein binding; zinc ion binding; RNA binding; sequence-specific DNA binding; transcription factor activity

Biological Process: tissue development; gonad development; positive regulation of apoptosis; heart development; positive regulation of transcription, DNA-dependent; thorax and anterior abdomen determination; negative regulation of transcription from RNA polymerase II promoter; glomerulus development; germ cell development; negative regulation of cell proliferation; regulation of transcription, DNA-dependent; epithelial cell differentiation; ureteric bud development; male genitalia development; kidney development; vasculogenesis; camera-type eye development; transcription, DNA-dependent; adrenal gland development; RNA splicing; male gonad development; glomerular basement membrane development; regulation of transcription from RNA polymerase II promoter; sex determination; ureteric bud branching; negative regulation of translation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell growth; negative regulation of transcription, DNA-dependent; negative regulation of apoptosis

Disease: Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome; Denys-drash Syndrome; Mesothelioma, Malignant; Nephrotic Syndrome, Type 4; Frasier Syndrome; Aniridia; Wilms Tumor 1; Meacham Syndrome