WT1
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 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Wilms tumor 1 | MIM:607102 | Ensembl:ENSG00000184937 | HGNC:HGNC:12796 | PA37395 | 11p13 |
GO terms in WT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISS | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISS | GO:0003700 | DNA-binding transcription factor activity |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0010385 | double-stranded methylated DNA binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IDA | GO:0044729 | hemi-methylated DNA-binding |
| MF | IPI | GO:0070742 | C2H2 zinc finger domain binding |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005730 | nucleolus |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0016607 | nuclear speck |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0001570 | vasculogenesis |
| BP | ISS | GO:0001657 | ureteric bud development |
| BP | IGI | GO:0001658 | branching involved in ureteric bud morphogenesis |
| BP | IGI | GO:0001822 | kidney development |
| BP | ISS | GO:0003156 | regulation of animal organ formation |
| BP | ISS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | ISS | GO:0007281 | germ cell development |
| BP | ISS | GO:0007356 | thorax and anterior abdomen determination |
| BP | IGI | GO:0007507 | heart development |
| BP | IDA | GO:0007530 | sex determination |
| BP | IBA | GO:0008285 | negative regulation of cell proliferation |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | ISS | GO:0008380 | RNA splicing |
| BP | ISS | GO:0008406 | gonad development |
| BP | IEP | GO:0008584 | male gonad development |
| BP | ISS | GO:0009888 | tissue development |
| BP | IDA | GO:0030308 | negative regulation of cell growth |
| BP | IGI | GO:0030325 | adrenal gland development |
| BP | ISS | GO:0030539 | male genitalia development |
| BP | ISS | GO:0030855 | epithelial cell differentiation |
| BP | IGI | GO:0032835 | glomerulus development |
| BP | IMP | GO:0032836 | glomerular basement membrane development |
| BP | ISS | GO:0035802 | adrenal cortex formation |
| BP | ISS | GO:0043010 | camera-type eye development |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IGI | GO:0043066 | negative regulation of apoptotic process |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IGI | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0060231 | mesenchymal to epithelial transition |
| BP | ISS | GO:0060421 | positive regulation of heart growth |
| BP | ISS | GO:0060539 | diaphragm development |
| BP | ISS | GO:0060923 | cardiac muscle cell fate commitment |
| BP | IGI | GO:0061032 | visceral serous pericardium development |
| BP | IBA | GO:0071320 | cellular response to cAMP |
| BP | IEP | GO:0071320 | cellular response to cAMP |
| BP | IBA | GO:0071371 | cellular response to gonadotropin stimulus |
| BP | IDA | GO:0071371 | cellular response to gonadotropin stimulus |
| BP | ISS | GO:0072075 | metanephric mesenchyme development |
| BP | IBA | GO:0072112 | glomerular visceral epithelial cell differentiation |
| BP | ISS | GO:0072112 | glomerular visceral epithelial cell differentiation |
| BP | ISS | GO:0072166 | posterior mesonephric tubule development |
| BP | IEP | GO:0072207 | metanephric epithelium development |
| BP | IGI | GO:0072284 | metanephric S-shaped body morphogenesis |
| BP | ISS | GO:0072302 | negative regulation of metanephric glomerular mesangial cell proliferation |
| BP | ISS | GO:2000020 | positive regulation of male gonad development |
| BP | ISS | GO:2000195 | negative regulation of female gonad development |
| BP | ISS | GO:2001076 | positive regulation of metanephric ureteric bud development |
Gene expression in normal tissue: WT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in WT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | tertpathway | overview of telomerase protein component gene htert transcriptional regulation |
| biocarta | tidpathway | chaperones modulate interferon signaling pathway |
| pid | p73pathway | p73 transcription factor network |
| pid | telomerasepathway | Regulation of Telomerase |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in WT1
CLASSFICATION
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