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.
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants.WNT5A (Wnt Family Member 5A) is a Protein Coding gene. Diseases associated with WNT5A include Robinow Syndrome, Autosomal Dominant 1 and Autosomal Dominant Robinow Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional repression and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein domain specific binding. An important paralog of this gene is WNT5B.
interferon regulatory factor 3
The human WSTF gene is located within the common Williams Syndrome (WS) deletion area at chromosome 7q11.23. Several WSTF gene products have been detected with little difference in length of polypeptides. Functional motifs identified by sequence-homology searches include a PHD-type zinc finger motif followed by a bromodomain. Both motifs are found in many transcription factors, suggesting that WSTF may function as a transcription factor. A Drosophila gene (acf1) was cloned, which encodes two forms of Acf1 proteins with molecular weight 170 kDa and 185 kDa, respectively. It was demonstrated that Acf1 is structurally related to the human WSTF gene. Acf1 forms a complex with another protein, ISWI, and functions in the ATP-dependent catalysis of chromatin assembly.
Wilms' Tumor protein (WT1) is a transcription factor named from Wilms' Tumor 1, an embryonal malignancy of the kidneys that is caused by mutations in the WT1 gene. It is highly important in development, particularly of the genitourinary system, and mutations and dysregulation of expression of WT1 result in a variety of syndromes affecting the genitourinary system and other tissues.WT1 has a myriad of biological functions and a host of interacting partners and target genes. It can behave as a transcriptional activator, or a repressor, and can act as an oncogene or a tumor suppressor. It exerts influence over the epigenetic landscape, and also has post translational influence of gene expression through RNA interactions. The diverse biological roles of WT1 have been attributed to the existence of multiple isoforms and post translation modifications of the protein.
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