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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 is a tumor suppressor gene associated with the development of Wilms' Tumor, from which it was named. Mutations in exon 7 and 9 of WT1 have been recurrently identified in acute myeloid leukemia and associated with poorer prognosis and chemotherapy resistance.
WT1 (WT1 Transcription Factor) is a Protein Coding gene. Diseases associated with WT1 include Wilms Tumor 1 and Denys-Drash Syndrome. Among its related pathways are Transcriptional misregulation in cancer and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and sequence-specific DNA binding. An important paralog of this gene is EGR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA, IBA | 1332065 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA,ISS | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 1662794 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IEA | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA,IMP | 23042785 |
GO:0001570 | vasculogenesis | ISS | -- |
GO:0001657 | ureteric bud development | ISS | -- |
GO:0001658 | branching involved in ureteric bud morphogenesis | IGI | 10101119 |
GO:0001822 | kidney development | IGI | 11912180 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 | ||
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 | ||
Docetaxel | Approved, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | ||
Epirubicin | Approved | Pharma | 483 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wt1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | WT1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wt1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | WT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wt1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | wt1-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wt1a 30 31 |
|
OneToMany | |
wt1b 31 |
|
OneToMany | |||
wt1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3065 31 |
|
ManyToMany | |
klu 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | egrh-2 31 |
|
OneToMany | |
egrh-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIG2 31 |
|
ManyToMany | |
MIG3 31 |
|
ManyToMany | |||
-- 33 |
|
|
|||
-- 33 |
|
|
|||
-- 33 |
|
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635489 | Uncertain Significance: Nephrotic syndrome, type 4 | 32,396,305(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
639084 | Uncertain Significance: Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; Drash syndrome | 32,434,975(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
639136 | Uncertain Significance: Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; Drash syndrome | 32,399,957(-) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
640025 | Uncertain Significance: Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; Drash syndrome | 32,428,571(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
641525 | Uncertain Significance: Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; Drash syndrome | 32,396,391(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3387730 | CNV | insertion | 20981092 |
esv3397537 | CNV | insertion | 20981092 |
esv3421146 | CNV | insertion | 20981092 |
esv3579463 | CNV | loss | 25503493 |
nsv1038188 | CNV | gain | 25217958 |
nsv1044547 | CNV | gain | 25217958 |
nsv1051559 | CNV | gain | 25217958 |
nsv472951 | CNV | novel sequence insertion | 20440878 |
nsv832108 | CNV | loss | 17160897 |
nsv951598 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wilms tumor 1 |
|
|
denys-drash syndrome |
|
|
frasier syndrome |
|
|
meacham syndrome |
|
|
nephrotic syndrome, type 4 |
|