WT1

Gene Information
 
Gene Symbol
WT1
 
Aliases
AWT1, EWS-WT1, GUD, NPHS4, WAGR, WIT-2, WT33
 
Entrez Gene ID
 
Gene Name
Wilms tumor 1
 
Chromosomal Location
11p13
 
HGNC ID
 
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 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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000122 Biological process Negative regulation of transcription from RNA polymerase II promoter IDA 7585606
GO:0001658 Biological process Branching involved in ureteric bud morphogenesis IGI 10101119
GO:0001822 Biological process Kidney development IGI 11912180
GO:0006351 Biological process Transcription, DNA-dependent NAS 7862533
GO:0006355 Biological process Regulation of transcription, DNA-dependent NAS 7862533
Protein Information
 
Protein Name
OTTHUMP00000238018 , Wilms tumor protein , AWT1 , OTTHUMP00000037555 , WT33 , GUD , Wilms tumor 1, WIT-2 , WAGR , OTTHUMP00000037556 , NPHS4 , OTTHUMP00000037554 , OTTHUMP00000037553
 
Function
Transcription factor that plays an important role in cellular development and cell survival. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. 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. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower affinity for DNA, and can bind RNA
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00096 zf-C2H2 Zinc finger, C2H2 type
PF02165 WT1 Wilm's tumour protein
PF13465 zf-H2C2_2 Zinc-finger double domain
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000331327 P19544

Associated Diseases

Diseases References
Cancer (adenoma) 15084840, 19543245
Cancer (carcinoma) 15084838, 16006803, 11939727, 14501819
Cryptorchidism 9817285, 19048299, 7591260, 10022588
Denys-drash syndrome 1327525, 8810912, 18197048, 1655284
Frasier syndrome 10670748, 16440249, 9499425, 10762296
   
References
 
Primary:

Loss of WT1 expression in the endometrium of infertile PCOS patients: a hyperandrogenic effect?

Gonzalez D, Thackeray H, Lewis P D, Mantani A, Brook N, Ahuja K, Margara R, Joels L, White J O, Conlan R S
Institute of Life Science, Swansea University, College of Medicine, and Singleton Hospital, Swansea SA2 8PP, United Kingdom.
J Clin Endocrinol Metab. 2012 Mar;97(3):957-66. Epub 2012 Jan 11.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
AR 
 
 
Rotterdam criteria 
Related 
25 PCOS, 25 fertile patients 
WT1 expression is down-regulated in ovPCOS endometrium during the window of implantation. The altered balance between WT1 and AR in the endometrium of PCOS patients may jeopardize the success of decidualization and endometrial receptivity. 

 

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