Entity Details

Primary name WT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP19544
EntryNameWT1_HUMAN
FullNameWilms tumor protein
TaxID9606
Evidenceevidence at protein level
Length449
SequenceStatuscomplete
DateCreated1991-02-01
DateModified2021-06-02

Ontological Relatives

GenesWT1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001570 vasculogenesis
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0003156 regulation of animal organ formation
GO:0003700 DNA-binding transcription factor activity
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007281 germ cell development
GO:0007356 thorax and anterior abdomen determination
GO:0007507 heart development
GO:0007530 sex determination
GO:0008270 zinc ion binding
GO:0008285 negative regulation of cell population proliferation
GO:0008380 RNA splicing
GO:0008406 gonad development
GO:0008584 male gonad development
GO:0009888 tissue development
GO:0010385 double-stranded methylated DNA binding
GO:0010628 positive regulation of gene expression
GO:0016607 nuclear speck
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:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0044729 hemi-methylated DNA-binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
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:0070742 C2H2 zinc finger domain binding
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:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II
GO:1905643 positive regulation of DNA methylation
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

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR000976 Wilm's tumour protein, N-terminalDomainDomain
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR017987 Wilm's tumour proteinFamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
256370 OMIMNephrotic syndrome 4 (NPHS4)A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. The disease is caused by variants affecting the gene represented in this entry.
194080 OMIMDenys-Drash syndrome (DDS)Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. The disease is caused by variants affecting the gene represented in this entry.
136680 OMIMFrasier syndrome (FS)Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
194070 OMIMWilms tumor 1 (WT1)Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. The disease is caused by variants affecting the gene represented in this entry.
608978 OMIMMeacham syndrome (MEACHS)Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. The disease is caused by variants affecting the gene represented in this entry.
156240 OMIMMesothelioma, malignant (MESOM)An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

78 interactions

InteractorPartnerSourcesPublicationsLink
WT1_HUMANDVL3_HUMANBioGRID, IntAct, MINT19447967 21900206 27229929 details
WT1_HUMANMDM2_HUMANBioGRID, IntAct21988832 details
WT1_HUMANNPM3_HUMANBioGRID, MINT21900206 details
WT1_HUMANTAOK1_HUMANBioGRID, MINT21900206 details
WT1_HUMANZN205_HUMANBioGRID, MINT21900206 details
WT1_HUMANCASZ1_HUMANBioGRID, MINT25640309 details
WT1_HUMANCCL5_HUMANBioGRID, MINT25640309 details
WT1_HUMANDIRA3_HUMANBioGRID, MINT25640309 details
WT1_HUMANKLK7_HUMANBioGRID, MINT25640309 details
WT1_HUMANARY2_HUMANBioGRID, MINT25640309 details
WT1_HUMANTHRSP_HUMANBioGRID, MINT25640309 details
WT1_HUMANKR108_HUMANBioGRID, IntAct25416956 details
WT1_HUMANK1C40_HUMANBioGRID, IntAct25416956 31515488 details
WT1_HUMANDVL2_HUMANBioGRID, IntAct27107012 27229929 details
WT1_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
WT1_HUMANIPO8_HUMANBioGRID, IntAct32296183 details
WT1_HUMANOSBL3_HUMANBioGRID, IntAct32296183 details
WT1_HUMANZRAN1_HUMANBioGRID, IntAct32296183 details
WT1_HUMANBHE40_HUMANBioGRID, IntAct32296183 details
WT1_HUMANKR107_HUMANBioGRID, IntAct27229929 32296183 details
WT1_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
WT1_HUMANHMBX1_HUMANBioGRID, IntAct27229929 32296183 details
WT1_HUMANKR106_HUMANBioGRID, IntAct32296183 details
WT1_HUMANFL2D_HUMANBioGRID, HPRD, IntAct11001926 26071132 32296183 details
WT1_HUMANTRI55_HUMANBioGRID, IntAct31391242 details
WT1_HUMANTET2_HUMANIntAct25601757 details
WT1_HUMANP53_HUMANBioGRID, HPRD, IntAct10744705 25601757 8389468 9556563 details
WT1_HUMANCLAT_HUMANIntAct32814053 details
WT1_HUMANFGFR3_HUMANIntAct32814053 details
WT1_HUMANRASH_HUMANIntAct32814053 details
WT1_HUMANDNJB1_HUMANIntAct32814053 details
WT1_HUMANPECA1_HUMANIntAct32814053 details
WT1_HUMANTGFR2_HUMANIntAct32814053 details
WT1_HUMANSQSTM_HUMANIntAct32814053 details
WT1_HUMANA4_HUMANIntAct32814053 details
WT1_HUMANUBC9_HUMANBioGRID, HPRD8798754 details
WT1_HUMANPAWR_HUMANBioGRID, HPRD8943350 details
WT1_HUMANU2AF2_HUMANBioGRID, HPRD9784496 details
WT1_HUMANCIAO1_HUMANBioGRID, HPRD9556563 details
WT1_HUMANEGR1_HUMANBioGRID19067769 details
WT1_HUMANKR103_HUMANBioGRID25416956 27229929 details
WT1_HUMANCC136_HUMANBioGRID27229929 details
WT1_HUMANCCD33_HUMANBioGRID27229929 details
WT1_HUMANCEP70_HUMANBioGRID27229929 details
WT1_HUMANETV7_HUMANBioGRID27229929 details
WT1_HUMANFAM9B_HUMANBioGRID27229929 details
WT1_HUMANFMR1N_HUMANBioGRID27229929 details
WT1_HUMANGOGA2_HUMANBioGRID27229929 details
WT1_HUMANIDI1_HUMANBioGRID27229929 details
WT1_HUMANIMA3_HUMANBioGRID27229929 details
WT1_HUMANIMA6_HUMANBioGRID27229929 details
WT1_HUMANKR101_HUMANBioGRID27229929 details
WT1_HUMANKR109_HUMANBioGRID27229929 details
WT1_HUMANLDOC1_HUMANBioGRID27229929 details
WT1_HUMANMAGA8_HUMANBioGRID27229929 details
WT1_HUMANRNH2B_HUMANBioGRID27229929 details
WT1_HUMANSERF2_HUMANBioGRID27229929 details
WT1_HUMANTHAP1_HUMANBioGRID27229929 details
WT1_HUMANMYC_HUMANBioGRID28205554 details
WT1_HUMANWT1_HUMANBioGRID28205554 details
WT1_HUMANGLIS2_HUMANBioGRID28205554 details
WT1_HUMANSOX4_HUMANBioGRID28205554 details
WT1_HUMANSTK11_HUMANBioGRID28205554 details
WT1_HUMANTRI63_HUMANBioGRID31391242 details
WT1_HUMANOGT1_HUMANBioGRID32994395 details
WT1_HUMANWTIP_HUMANHPRD14736876 details
WT1_HUMANMEN1_HUMANBioGRID21378168 details
WT1_HUMANSUZ12_HUMANBioGRID21378168 details
WT1_HUMANEZH2_HUMANBioGRID21378168 details
WT1_HUMANDNMT1_HUMANBioGRID21378168 details
WT1_HUMANHSP74_HUMANBioGRID9553041 details
WT1_HUMANPAX2_HUMANHPRD14603255 details
WT1_HUMANCBP_HUMANHPRD11278547 details
WT1_HUMANKAPCA_HUMANHPRD9366517 details
WT1_HUMANP73_HUMANHPRD10744705 details
WT1_HUMANFHL2_HUMANHPRD12151099 details
WT1_HUMANP63_HUMANHPRD10744705 details
WT1_HUMANAREG_HUMANHPRD10490105 details