UniProtKB - P19544 (WT1_HUMAN)
Protein
Wilms tumor protein
Gene
WT1
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. 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 (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921).7 Publications
Miscellaneous
Presence of the KTS motif hinders interactions between DNA and zinc-finger 4.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sitei | 424 | Important for interaction with target DNA | 1 | |
| Sitei | 430 | Important for interaction with target DNA | 1 |
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Zinc fingeri | 323 – 347 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
| Zinc fingeri | 353 – 377 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 25 | |
| Zinc fingeri | 383 – 405 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
| Zinc fingeri | 414 – 438 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- C2H2 zinc finger domain binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- double-stranded methylated DNA binding Source: UniProtKB
- hemi-methylated DNA-binding Source: UniProtKB
- RNA binding Source: UniProtKB-KW
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: UniProtKB
- transcription regulatory region DNA binding Source: UniProtKB
- zinc ion binding Source: UniProtKB
GO - Biological processi
- adrenal cortex formation Source: UniProtKB
- adrenal gland development Source: UniProtKB
- branching involved in ureteric bud morphogenesis Source: UniProtKB
- camera-type eye development Source: UniProtKB
- cardiac muscle cell fate commitment Source: BHF-UCL
- cellular response to cAMP Source: UniProtKB
- cellular response to gonadotropin stimulus Source: UniProtKB
- diaphragm development Source: UniProtKB
- epithelial cell differentiation Source: UniProtKB
- germ cell development Source: UniProtKB
- glomerular basement membrane development Source: UniProtKB
- glomerular visceral epithelial cell differentiation Source: UniProtKB
- glomerulus development Source: UniProtKB
- gonad development Source: UniProtKB
- heart development Source: UniProtKB
- kidney development Source: UniProtKB
- male genitalia development Source: UniProtKB
- male gonad development Source: UniProtKB
- mesenchymal to epithelial transition Source: UniProtKB
- metanephric epithelium development Source: UniProtKB
- metanephric mesenchyme development Source: UniProtKB
- metanephric S-shaped body morphogenesis Source: UniProtKB
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of cell growth Source: UniProtKB
- negative regulation of cell proliferation Source: UniProtKB
- negative regulation of female gonad development Source: UniProtKB
- negative regulation of metanephric glomerular mesangial cell proliferation Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: MGI
- negative regulation of translation Source: UniProtKB
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of heart growth Source: UniProtKB
- positive regulation of male gonad development Source: UniProtKB
- positive regulation of metanephric ureteric bud development Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- posterior mesonephric tubule development Source: UniProtKB
- regulation of animal organ formation Source: UniProtKB
- regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- RNA splicing Source: UniProtKB
- sex determination Source: UniProtKB
- thorax and anterior abdomen determination Source: UniProtKB
- tissue development Source: UniProtKB
- ureteric bud development Source: UniProtKB
- vasculogenesis Source: UniProtKB
- visceral serous pericardium development Source: UniProtKB
Keywordsi
| Molecular function | DNA-binding, RNA-binding |
| Biological process | Transcription, Transcription regulation |
| Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
| SignaLinki | P19544 |
| SIGNORi | P19544 |
Names & Taxonomyi
| Protein namesi | Recommended name: Wilms tumor proteinAlternative name(s): WT33 |
| Gene namesi | Name:WT1 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| EuPathDBi | HostDB:ENSG00000184937.12 |
| HGNCi | HGNC:12796 WT1 |
| MIMi | 607102 gene |
| neXtProti | NX_P19544 |
Pathology & Biotechi
Involvement in diseasei
Frasier syndrome (FS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
See also OMIM:136680| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_015060 | 392 | F → L in FS. 1 Publication | 1 |
Wilms tumor 1 (WT1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionEmbryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.
See also OMIM:194070| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_007739 | 181 | P → S in WT1. 2 PublicationsCorresponds to variant dbSNP:rs2234584Ensembl. | 1 | |
| Natural variantiVAR_007740 | 223 | S → N in WT1. 1 Publication | 1 | |
| Natural variantiVAR_007741 | 253 | G → A in WT1. 1 Publication | 1 | |
| Natural variantiVAR_043799 | 355 | C → G in WT1. 1 Publication | 1 | |
| Natural variantiVAR_007745 | 366 | R → C in WT1, DDS and MEACHS. 4 Publications | 1 | |
| Natural variantiVAR_043807 | 394 | R → L in WT1. 1 Publication | 1 |
Denys-Drash syndrome (DDS)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionTypical 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.
See also OMIM:194080| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_007743 | 330 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015054 | 342 | M → R in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015055 | 355 | C → Y in DDS. 2 Publications | 1 | |
| Natural variantiVAR_007744 | 360 | C → G in DDS. | 1 | |
| Natural variantiVAR_043800 | 360 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043802 | 366 | R → L in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043803 | 369 | Q → P in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015056 | 373 | H → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015057 | 377 | H → R in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015058 | 385 | C → R in DDS. 3 Publications | 1 | |
| Natural variantiVAR_015059 | 388 | C → F in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043806 | 388 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043808 | 394 | R → P in DDS. 1 Publication | 1 | |
| Natural variantiVAR_007750 | 394 | R → W in DDS, WT1, MEACHS and NPHS4. 9 Publications | 1 | |
| Natural variantiVAR_007752 | 396 | D → G in DDS. | 1 | |
| Natural variantiVAR_043809 | 396 | D → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015062 | 398 | L → P in DDS. 2 Publications | 1 | |
| Natural variantiVAR_043811 | 401 | H → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043812 | 405 | H → R in DDS. 1 Publication | 1 |
Nephrotic syndrome 4 (NPHS4)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256370| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_015053 | 312 | R → Q in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_043801 | 364 | F → L in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_007748 | 377 | H → Y in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_043804 | 379 | G → C in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_007749 | 383 | F → L in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_043805 | 388 | C → R in NPHS4. 2 Publications | 1 | |
| Natural variantiVAR_043810 | 397 | H → P in NPHS4. 2 Publications | 1 |
Meacham syndrome (MEACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:608978A chromosomal aberration involving WT1 may be a cause of desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with EWSR1.
Mesothelioma, malignant (MESOM)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:156240Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Mutagenesisi | 73 | K → R: Abolishes sumoylation; when associated with R-177. 1 Publication | 1 | |
| Mutagenesisi | 177 | K → R: Abolishes sumoylation; when associated with R-77. 1 Publication | 1 | |
| Mutagenesisi | 343 | H → A: Reduced RNA binding. 1 Publication | 1 | |
| Mutagenesisi | 366 | R → A: Strongly reduced binding of DNA and RNA. 1 Publication | 1 | |
| Mutagenesisi | 372 | R → A: Strongly reduced binding of DNA and RNA. 1 Publication | 1 | |
| Mutagenesisi | 394 | R → A or S: Strongly reduced binding of DNA and RNA. 1 Publication | 1 | |
| Mutagenesisi | 434 | H → A: Reduced RNA binding. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Tumor suppressorOrganism-specific databases
| DisGeNETi | 7490 |
| GeneReviewsi | WT1 |
| MalaCardsi | WT1 |
| MIMi | 136680 phenotype 156240 phenotype 194070 phenotype 194080 phenotype 256370 phenotype 608978 phenotype |
| OpenTargetsi | ENSG00000184937 |
| Orphaneti | 251510 46,XY partial gonadal dysgenesis 220 Denys-Drash syndrome 83469 Desmoplastic small round cell tumor 93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 347 Frasier syndrome 3097 Meacham syndrome 654 Nephroblastoma 93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 893 WAGR syndrome |
| PharmGKBi | PA37395 |
Polymorphism and mutation databases
| BioMutai | WT1 |
| DMDMi | 139778 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000047131 | 1 – 449 | Wilms tumor proteinAdd BLAST | 449 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Cross-linki | 73 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Cross-linki | 177 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Cross-linki | 444 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
| MaxQBi | P19544 |
| PaxDbi | P19544 |
| PeptideAtlasi | P19544 |
| PRIDEi | P19544 |
| ProteomicsDBi | 53673 53674 [P19544-2] 53675 [P19544-3] 53676 [P19544-4] 53677 [P19544-6] 53678 [P19544-7] 53679 [P19544-8] 53680 [P19544-9] |
PTM databases
| iPTMneti | P19544 |
| PhosphoSitePlusi | P19544 |
Expressioni
Tissue specificityi
Expressed in the kidney and a subset of hematopoietic cells.
Gene expression databases
| Bgeei | ENSG00000184937 Expressed in 116 organ(s), highest expression level in germinal epithelium of ovary |
| CleanExi | HS_WT1 |
| ExpressionAtlasi | P19544 baseline and differential |
| Genevisiblei | P19544 HS |
Organism-specific databases
| HPAi | CAB000327 HPA035717 HPA053848 |
Interactioni
Subunit structurei
Homodimer. Interacts with WTIP. Interacts with actively translating polysomes. Detected in nuclear ribonucleoprotein (mRNP) particles. Interacts with HNRNPU via the zinc-finger region. Interacts with U2AF2. Interacts with CITED2 (By similarity). Interacts with ZNF224 via the zinc-finger region. Interacts with WTAP and SRY. Interacts with AMER1. Interacts with RBM4.By similarity7 Publications
Binary interactionsi
GO - Molecular functioni
- C2H2 zinc finger domain binding Source: UniProtKB
Protein-protein interaction databases
| BioGridi | 113327, 50 interactors |
| IntActi | P19544, 24 interactors |
| MINTi | P19544 |
| STRINGi | 9606.ENSP00000331327 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| ProteinModelPortali | P19544 |
| SMRi | P19544 |
| ModBasei | Search... |
| MobiDBi | Search... |
Miscellaneous databases
| EvolutionaryTracei | P19544 |
Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 367 – 381 | Important for interaction with target DNAAdd BLAST | 15 | |
| Regioni | 393 – 401 | Important for interaction with target DNA | 9 |
Motif
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Motifi | 408 – 410 | KTS motif | 3 |
Compositional bias
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Compositional biasi | 27 – 83 | Pro-richAdd BLAST | 57 |
Domaini
Binds to DNA motifs with the sequence 5'-GCG(T/G)GGGCG-3' via its C2H2-type zinc fingers. Starting from the N-terminus, the second zinc finger binds to the 3'-GCG motif, the middle zinc finger interacts with the central TGG motif, and the C-terminal zinc finger binds to the 5'-GCG motif. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Has reduced affinity for target DNA where the cytosines have been oxidized to 5-hydroxymethylcytosine, 5-formylcytosine or 5-carboxylcytosine.1 Publication
Sequence similaritiesi
Belongs to the EGR C2H2-type zinc-finger protein family.Curated
Zinc finger
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Zinc fingeri | 323 – 347 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 25 | |
| Zinc fingeri | 353 – 377 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 25 | |
| Zinc fingeri | 383 – 405 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
| Zinc fingeri | 414 – 438 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
| eggNOGi | KOG1721 Eukaryota COG5048 LUCA |
| GeneTreei | ENSGT00550000074455 |
| HOVERGENi | HBG006960 |
| InParanoidi | P19544 |
| KOi | K09234 |
| PhylomeDBi | P19544 |
Family and domain databases
| InterProi | View protein in InterPro IPR017987 Wilms_tumour IPR000976 Wilms_tumour_N IPR036236 Znf_C2H2_sf IPR013087 Znf_C2H2_type |
| PANTHERi | PTHR44601 PTHR44601, 1 hit |
| Pfami | View protein in Pfam PF02165 WT1, 1 hit PF00096 zf-C2H2, 3 hits |
| SMARTi | View protein in SMART SM00355 ZnF_C2H2, 4 hits |
| SUPFAMi | SSF57667 SSF57667, 2 hits |
| PROSITEi | View protein in PROSITE PS00028 ZINC_FINGER_C2H2_1, 4 hits PS50157 ZINC_FINGER_C2H2_2, 4 hits |
Sequences (8+)i
Sequence statusi: Complete.
This entry describes 8 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basketThis entry has 8 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P19544-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MGSDVRDLNA LLPAVPSLGG GGGCALPVSG AAQWAPVLDF APPGASAYGS
60 70 80 90 100
LGGPAPPPAP PPPPPPPPHS FIKQEPSWGG AEPHEEQCLS AFTVHFSGQF
110 120 130 140 150
TGTAGACRYG PFGPPPPSQA SSGQARMFPN APYLPSCLES QPAIRNQGYS
160 170 180 190 200
TVTFDGTPSY GHTPSHHAAQ FPNHSFKHED PMGQQGSLGE QQYSVPPPVY
210 220 230 240 250
GCHTPTDSCT GSQALLLRTP YSSDNLYQMT SQLECMTWNQ MNLGATLKGV
260 270 280 290 300
AAGSSSSVKW TEGQSNHSTG YESDNHTTPI LCGAQYRIHT HGVFRGIQDV
310 320 330 340 350
RRVPGVAPTL VRSASETSEK RPFMCAYPGC NKRYFKLSHL QMHSRKHTGE
360 370 380 390 400
KPYQCDFKDC ERRFSRSDQL KRHQRRHTGV KPFQCKTCQR KFSRSDHLKT
410 420 430 440
HTRTHTGKTS EKPFSCRWPS CQKKFARSDE LVRHHNMHQR NMTKLQLAL
Note: Detected in nucleus speckle, may bind mRNA.
Isoform 7 (identifier: P19544-7) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM
Note: Produced by alternative initiation of isoform 1. Extended N-terminus.
Show »Isoform 8 (identifier: P19544-8) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM
250-266: Missing.
Note: Produced by alternative initiation of isoform 1. Extended N-terminus.
Show »Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket| J3KNN9 | J3KNN9_HUMAN | Wilms tumor protein | WT1 | 517 | Annotation score: | ||
| H0Y7K5 | H0Y7K5_HUMAN | Wilms tumor protein | WT1 | 514 | Annotation score: | ||
| A0A0A0MT54 | A0A0A0MT54_HUMAN | Wilms tumor protein | WT1 | 497 | Annotation score: | ||
| H0YED9 | H0YED9_HUMAN | Wilms tumor protein | WT1 | 178 | Annotation score: | ||
| A0A1W2PQQ0 | A0A1W2PQQ0_HUMAN | Wilms tumor protein | WT1 | 497 | Annotation score: | ||
| A0A1W2PR07 | A0A1W2PR07_HUMAN | Wilms tumor protein | WT1 | 517 | Annotation score: | ||
| A0A1W2PPP2 | A0A1W2PPP2_HUMAN | Wilms tumor protein | WT1 | 514 | Annotation score: | ||
| H0Y3F0 | H0Y3F0_HUMAN | Wilms tumor protein | WT1 | 317 | Annotation score: | ||
| E9PKS2 | E9PKS2_HUMAN | Wilms tumor protein | WT1 | 131 | Annotation score: | ||
| E9PPW3 | E9PPW3_HUMAN | Wilms tumor protein | WT1 | 25 | Annotation score: |
Sequence cautioni
The sequence AAB33443 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence CAA35956 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.Curated
The sequence CAA35956 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAC39220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI95758 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI95759 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sequence conflicti | 288 | I → M in AAH32861 (PubMed:15489334).Curated | 1 | |
| Sequence conflicti | 365 | S → F in AAA36810 (PubMed:2154335).Curated | 1 | |
| Sequence conflicti | 365 | S → F in AAB33443 (PubMed:7862533).Curated | 1 | |
| Sequence conflicti | 387 | T → A in CAA43819 (PubMed:1572653).Curated | 1 |
RNA editingi
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_043798 | 131 | A → T in a patient with hypospadias. 1 Publication | 1 | |
| Natural variantiVAR_007739 | 181 | P → S in WT1. 2 PublicationsCorresponds to variant dbSNP:rs2234584Ensembl. | 1 | |
| Natural variantiVAR_007740 | 223 | S → N in WT1. 1 Publication | 1 | |
| Natural variantiVAR_007741 | 253 | G → A in WT1. 1 Publication | 1 | |
| Natural variantiVAR_007742 | 273 | S → G Found in a mesothelioma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121907908Ensembl. | 1 | |
| Natural variantiVAR_058021 | 281 | L → P in RNA edited version. | 1 | |
| Natural variantiVAR_015053 | 312 | R → Q in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_007743 | 330 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015054 | 342 | M → R in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043799 | 355 | C → G in WT1. 1 Publication | 1 | |
| Natural variantiVAR_015055 | 355 | C → Y in DDS. 2 Publications | 1 | |
| Natural variantiVAR_007744 | 360 | C → G in DDS. | 1 | |
| Natural variantiVAR_043800 | 360 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043801 | 364 | F → L in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_007745 | 366 | R → C in WT1, DDS and MEACHS. 4 Publications | 1 | |
| Natural variantiVAR_007746 | 366 | R → H in DDS and WT1. 4 Publications | 1 | |
| Natural variantiVAR_043802 | 366 | R → L in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043803 | 369 | Q → P in DDS. 1 Publication | 1 | |
| Natural variantiVAR_007747 | 373 | H → Q in DDS and WT1. 1 Publication | 1 | |
| Natural variantiVAR_015056 | 373 | H → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015057 | 377 | H → R in DDS. 1 Publication | 1 | |
| Natural variantiVAR_007748 | 377 | H → Y in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_043804 | 379 | G → C in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_007749 | 383 | F → L in NPHS4. 1 Publication | 1 | |
| Natural variantiVAR_015058 | 385 | C → R in DDS. 3 Publications | 1 | |
| Natural variantiVAR_015059 | 388 | C → F in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043805 | 388 | C → R in NPHS4. 2 Publications | 1 | |
| Natural variantiVAR_043806 | 388 | C → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015060 | 392 | F → L in FS. 1 Publication | 1 | |
| Natural variantiVAR_043807 | 394 | R → L in WT1. 1 Publication | 1 | |
| Natural variantiVAR_043808 | 394 | R → P in DDS. 1 Publication | 1 | |
| Natural variantiVAR_015061 | 394 | R → Q in DDS and NPHS4. 3 Publications | 1 | |
| Natural variantiVAR_007750 | 394 | R → W in DDS, WT1, MEACHS and NPHS4. 9 Publications | 1 | |
| Natural variantiVAR_007752 | 396 | D → G in DDS. | 1 | |
| Natural variantiVAR_007751 | 396 | D → N in DDS and NPHS4. 3 Publications | 1 | |
| Natural variantiVAR_043809 | 396 | D → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043810 | 397 | H → P in NPHS4. 2 Publications | 1 | |
| Natural variantiVAR_015062 | 398 | L → P in DDS. 2 Publications | 1 | |
| Natural variantiVAR_043811 | 401 | H → Y in DDS. 1 Publication | 1 | |
| Natural variantiVAR_043812 | 405 | H → R in DDS. 1 Publication | 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Alternative sequenceiVSP_037582 | 1 – 144 | Missing in isoform 6 and isoform 9. 2 PublicationsAdd BLAST | 144 | |
| Alternative sequenceiVSP_037583 | 1 | M → MDFLLLQDPASTCVPEPASQ HTLRSGPGCLQQPEQQGVRD PGGIWAKLGAAEASAERLQG RRSRGASGSEPQQM in isoform 7 and isoform 8. 1 Publication | 1 | |
| Alternative sequenceiVSP_037584 | 145 – 147 | RNQ → MEK in isoform 6 and isoform 9. 2 Publications | 3 | |
| Alternative sequenceiVSP_006866 | 250 – 266 | Missing in isoform 2, isoform 3, isoform 8 and isoform 9. 2 PublicationsAdd BLAST | 17 | |
| Alternative sequenceiVSP_006867 | 408 – 410 | Missing in isoform 2, isoform 4 and isoform 6. 3 Publications | 3 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X51630 mRNA Translation: CAA35956.1 Sequence problems. M80232 M80231 Genomic DNA Translation: AAA61299.1 X61631 X61638 Genomic DNA Translation: CAA43819.1 AK093168 mRNA Translation: BAG52667.1 AK291736 mRNA Translation: BAF84425.1 AY245105 Genomic DNA Translation: AAO61088.1 AL049692 Genomic DNA Translation: CAC39220.3 Different initiation. AL049692 Genomic DNA Translation: CAI95758.2 Different initiation. AL049692 Genomic DNA Translation: CAI95759.2 Different initiation. AL049692 Genomic DNA Translation: CAI95760.1 CH471064 Genomic DNA Translation: EAW68220.1 CH471064 Genomic DNA Translation: EAW68223.1 CH471064 Genomic DNA Translation: EAW68224.1 BC032861 mRNA Translation: AAH32861.1 M30393 mRNA Translation: AAA36810.1 S75264 mRNA Translation: AAB33443.1 Sequence problems. S61515 Genomic DNA Translation: AAB20110.1 S61522 Genomic DNA Translation: AAB20111.1 S61524 Genomic DNA Translation: AAB20112.1 S60755 Genomic DNA Translation: AAC60605.1 |
| CCDSi | CCDS55750.1 [P19544-9] CCDS55751.1 [P19544-6] CCDS7878.2 [P19544-7] |
| PIRi | A38080 |
| RefSeqi | NP_000369.3, NM_000378.4 NP_001185480.1, NM_001198551.1 [P19544-6] NP_001185481.1, NM_001198552.1 [P19544-9] NP_077742.2, NM_024424.3 NP_077744.3, NM_024426.4 [P19544-7] |
| UniGenei | Hs.591980 |
Genome annotation databases
| Ensembli | ENST00000379079; ENSP00000368370; ENSG00000184937 [P19544-6] ENST00000530998; ENSP00000435307; ENSG00000184937 [P19544-9] |
| GeneIDi | 7490 |
| KEGGi | hsa:7490 |
| UCSCi | uc001mtl.3 human [P19544-1] |
Keywords - Coding sequence diversityi
Alternative initiation, Alternative splicing, Chromosomal rearrangement, RNA editingSimilar proteinsi
Cross-referencesi
Web resourcesi
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
| NIEHS-SNPs |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X51630 mRNA Translation: CAA35956.1 Sequence problems. M80232 M80231 Genomic DNA Translation: AAA61299.1 X61631 X61638 Genomic DNA Translation: CAA43819.1 AK093168 mRNA Translation: BAG52667.1 AK291736 mRNA Translation: BAF84425.1 AY245105 Genomic DNA Translation: AAO61088.1 AL049692 Genomic DNA Translation: CAC39220.3 Different initiation. AL049692 Genomic DNA Translation: CAI95758.2 Different initiation. AL049692 Genomic DNA Translation: CAI95759.2 Different initiation. AL049692 Genomic DNA Translation: CAI95760.1 CH471064 Genomic DNA Translation: EAW68220.1 CH471064 Genomic DNA Translation: EAW68223.1 CH471064 Genomic DNA Translation: EAW68224.1 BC032861 mRNA Translation: AAH32861.1 M30393 mRNA Translation: AAA36810.1 S75264 mRNA Translation: AAB33443.1 Sequence problems. S61515 Genomic DNA Translation: AAB20110.1 S61522 Genomic DNA Translation: AAB20111.1 S61524 Genomic DNA Translation: AAB20112.1 S60755 Genomic DNA Translation: AAC60605.1 |
| CCDSi | CCDS55750.1 [P19544-9] CCDS55751.1 [P19544-6] CCDS7878.2 [P19544-7] |
| PIRi | A38080 |
| RefSeqi | NP_000369.3, NM_000378.4 NP_001185480.1, NM_001198551.1 [P19544-6] NP_001185481.1, NM_001198552.1 [P19544-9] NP_077742.2, NM_024424.3 NP_077744.3, NM_024426.4 [P19544-7] |
| UniGenei | Hs.591980 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 1LU6 | model | - | A | 310-449 | [»] | |
| 1XF7 | NMR | - | A | 381-407 | [»] | |
| 2G7T | model | - | A | 310-449 | [»] | |
| 2G7V | model | - | A | 310-449 | [»] | |
| 2G7W | model | - | A | 310-449 | [»] | |
| 2G7X | model | - | A | 310-449 | [»] | |
| 2JP9 | NMR | - | A | 318-438 | [»] | |
| 2JPA | NMR | - | A | 318-438 | [»] | |
| 2PRT | X-ray | 3.15 | A | 318-438 | [»] | |
| 3HPJ | X-ray | 2.00 | C/F | 126-134 | [»] | |
| 3MYJ | X-ray | 1.89 | C/F | 126-134 | [»] | |
| 4R2E | X-ray | 1.84 | A | 350-440 | [»] | |
| 4R2P | X-ray | 1.79 | A | 350-440 | [»] | |
| 4R2Q | X-ray | 1.54 | A | 350-440 | [»] | |
| 4R2R | X-ray | 2.09 | A | 350-440 | [»] | |
| 4R2S | X-ray | 2.49 | A | 350-440 | [»] | |
| 4WUU | X-ray | 3.05 | C | 126-134 | [»] | |
| 5KL2 | X-ray | 1.69 | A | 350-440 | [»] | |
| 5KL3 | X-ray | 1.45 | A | 350-440 | [»] | |
| 5KL4 | X-ray | 1.78 | A/D | 350-440 | [»] | |
| 5KL5 | X-ray | 2.29 | A | 350-440 | [»] | |
| 5KL6 | X-ray | 1.64 | A | 350-440 | [»] | |
| 5KL7 | X-ray | 1.58 | A | 350-440 | [»] | |
| 6B0O | X-ray | 1.55 | A/D | 321-440 | [»] | |
| 6B0P | X-ray | 2.08 | A/D | 321-440 | [»] | |
| 6B0Q | X-ray | 2.79 | A/D | 321-440 | [»] | |
| 6B0R | X-ray | 1.82 | A/D | 321-440 | [»] | |
| 6BLW | X-ray | 1.83 | A | 319-440 | [»] | |
| ProteinModelPortali | P19544 | |||||
| SMRi | P19544 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 113327, 50 interactors |
| IntActi | P19544, 24 interactors |
| MINTi | P19544 |
| STRINGi | 9606.ENSP00000331327 |
PTM databases
| iPTMneti | P19544 |
| PhosphoSitePlusi | P19544 |
Polymorphism and mutation databases
| BioMutai | WT1 |
| DMDMi | 139778 |
Proteomic databases
| MaxQBi | P19544 |
| PaxDbi | P19544 |
| PeptideAtlasi | P19544 |
| PRIDEi | P19544 |
| ProteomicsDBi | 53673 53674 [P19544-2] 53675 [P19544-3] 53676 [P19544-4] 53677 [P19544-6] 53678 [P19544-7] 53679 [P19544-8] 53680 [P19544-9] |
Protocols and materials databases
| DNASUi | 7490 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000379079; ENSP00000368370; ENSG00000184937 [P19544-6] ENST00000530998; ENSP00000435307; ENSG00000184937 [P19544-9] |
| GeneIDi | 7490 |
| KEGGi | hsa:7490 |
| UCSCi | uc001mtl.3 human [P19544-1] |
Organism-specific databases
| CTDi | 7490 |
| DisGeNETi | 7490 |
| EuPathDBi | HostDB:ENSG00000184937.12 |
| GeneCardsi | WT1 |
| GeneReviewsi | WT1 |
| H-InvDBi | HIX0009531 |
| HGNCi | HGNC:12796 WT1 |
| HPAi | CAB000327 HPA035717 HPA053848 |
| MalaCardsi | WT1 |
| MIMi | 136680 phenotype 156240 phenotype 194070 phenotype 194080 phenotype 256370 phenotype 607102 gene 608978 phenotype |
| neXtProti | NX_P19544 |
| OpenTargetsi | ENSG00000184937 |
| Orphaneti | 251510 46,XY partial gonadal dysgenesis 220 Denys-Drash syndrome 83469 Desmoplastic small round cell tumor 93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 347 Frasier syndrome 3097 Meacham syndrome 654 Nephroblastoma 93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 893 WAGR syndrome |
| PharmGKBi | PA37395 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | KOG1721 Eukaryota COG5048 LUCA |
| GeneTreei | ENSGT00550000074455 |
| HOVERGENi | HBG006960 |
| InParanoidi | P19544 |
| KOi | K09234 |
| PhylomeDBi | P19544 |
Enzyme and pathway databases
| SignaLinki | P19544 |
| SIGNORi | P19544 |
Miscellaneous databases
| ChiTaRSi | WT1 human |
| EvolutionaryTracei | P19544 |
| GeneWikii | WT1 |
| GenomeRNAii | 7490 |
| PROi | PR:P19544 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000184937 Expressed in 116 organ(s), highest expression level in germinal epithelium of ovary |
| CleanExi | HS_WT1 |
| ExpressionAtlasi | P19544 baseline and differential |
| Genevisiblei | P19544 HS |
Family and domain databases
| InterProi | View protein in InterPro IPR017987 Wilms_tumour IPR000976 Wilms_tumour_N IPR036236 Znf_C2H2_sf IPR013087 Znf_C2H2_type |
| PANTHERi | PTHR44601 PTHR44601, 1 hit |
| Pfami | View protein in Pfam PF02165 WT1, 1 hit PF00096 zf-C2H2, 3 hits |
| SMARTi | View protein in SMART SM00355 ZnF_C2H2, 4 hits |
| SUPFAMi | SSF57667 SSF57667, 2 hits |
| PROSITEi | View protein in PROSITE PS00028 ZINC_FINGER_C2H2_1, 4 hits PS50157 ZINC_FINGER_C2H2_2, 4 hits |
| ProtoNeti | Search... |
Entry informationi
| Entry namei | WT1_HUMAN | |
| Accessioni | P19544Primary (citable) accession number: P19544 Secondary accession number(s): A8K6S1 Q8IYZ5 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1991 |
| Last sequence update: | August 1, 1991 | |
| Last modified: | October 10, 2018 | |
| This is version 226 of the entry and version 2 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
