WT1 cDNA Clone – 1 (Human)

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]

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

Chromosomal Location of Human Ortholog: 11p13

Cellular Component: cytoplasm; nuclear speck; nucleus

Molecular Function: double-stranded methylated DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity; zinc ion binding

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

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