Version 5.4
Homo sapiens Gene: WT1
Summary
InnateDB Gene IDBG-37982.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WT1
Gene Name Wilms tumor 1
Synonyms AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Species Homo sapiens
Ensembl Gene ENSG00000184937
Encoded Proteins
IDBP-37984
Wilms tumor 1
IDBP-37986
Wilms tumor 1
IDBP-37988
Wilms tumor 1
IDBP-370526
Wilms tumor 1
IDBP-370530
Wilms tumor 1
IDBP-594329
Wilms tumor 1
IDBP-603684
Wilms tumor 1
IDBP-583396
Wilms tumor 1
IDBP-599506
Wilms tumor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Oct 2010]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:32387775-32435630
Strand Reverse strand
Band p13
Transcripts
ENST00000332351 ENSP00000331327
ENST00000379079 ENSP00000368370
ENST00000379077 ENSP00000368368
ENST00000448076 ENSP00000413452
ENST00000452863 ENSP00000415516
ENST00000530998 ENSP00000435307
ENST00000527882 ENSP00000435624
ENST00000526685 ENSP00000436292
ENST00000527775 ENSP00000435351
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 29 [view]
Protein-Protein 27 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003676 nucleic acid binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0070742 C2H2 zinc finger domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001570 vasculogenesis
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0003156 regulation of organ formation
GO:0006309 apoptotic DNA fragmentation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007281 germ cell development
GO:0007356 thorax and anterior abdomen determination
GO:0007507 heart development
GO:0007530 sex determination
GO:0008285 negative regulation of cell proliferation
GO:0008380 RNA splicing
GO:0008406 gonad development
GO:0008584 male gonad development
GO:0009888 tissue development
GO:0017148 negative regulation of translation
GO:0030308 negative regulation of cell growth
GO:0030325 adrenal gland development
GO:0030539 male genitalia development
GO:0030855 epithelial cell differentiation
GO:0032835 glomerulus development
GO:0032836 glomerular basement membrane development
GO:0035802 adrenal cortex formation
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060231 mesenchymal to epithelial transition
GO:0060421 positive regulation of heart growth
GO:0060539 diaphragm development
GO:0060923 cardiac muscle cell fate commitment
GO:0061032 visceral serous pericardium development
GO:0071320 cellular response to cAMP
GO:0071371 cellular response to gonadotropin stimulus
GO:0072075 metanephric mesenchyme development
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0072166 posterior mesonephric tubule development
GO:0072207 metanephric epithelium development
GO:0072284 metanephric S-shaped body morphogenesis
GO:0072302 negative regulation of metanephric glomerular mesangial cell proliferation
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
GO:2000020 positive regulation of male gonad development
GO:2000195 negative regulation of female gonad development
GO:2001076 positive regulation of metanephric ureteric bud development
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016607 nuclear speck
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000016458
View Gene Order
ENSBTAG00000047268
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
INOH website
TGF-beta signaling pathway
INOH website
BMP2 signaling pathway
PID NCI
p73pathway
p73 transcription factor network
telomerasepathway
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL A0FJ57 A0FJ58 A8MN20 E9PKS2 E9PPW3 H0Y3F0 J3KNN9 Q6LBI3
UniProt Splice Variant
Entrez Gene 7490
UniGene Hs.591980 Hs.606557
RefSeq NM_024426 NM_000378 NM_001198551 NM_001198552 NM_024424
HUGO HGNC:12796
OMIM 607102
CCDS CCDS7878 CCDS44561 CCDS44562 CCDS55750 CCDS55751
HPRD 06163
IMGT
EMBL AK093168 AK291736 AL049692 AY245105 BC032861 CH471064 D13624 EF012820 EF012821 M30393 M80217 M80218 M80219 M80220 M80221 M80228 M80229 M80231 M80232 S60755 S61515 S61522 S61524 S75264 X51630 X61631 X61632 X61633 X61634 X61635 X61636 X61637 X61638 X72314
GenPept AAA36810 AAA61299 AAB20110 AAB20111 AAB20112 AAB33443 AAC60605 AAH32861 AAO61088 ABK15552 ABK15553 BAF84425 BAF85820 BAG52667 CAA35956 CAA43819 CAA51057 CAC39220 CAI95758 CAI95759 CAI95760 EAW68220 EAW68223 EAW68224
RNA Seq Atlas 7490

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca