UniProtKB - P19544 (WT1_HUMAN)
Wilms tumor protein
WT1
Functioni
Miscellaneous
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 activator activity, RNA polymerase II-specific Source: ARUK-UCL
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- double-stranded methylated DNA binding Source: UniProtKB
- hemi-methylated DNA-binding Source: UniProtKB
- RNA binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific DNA binding Source: UniProtKB
- transcription regulatory region sequence-specific 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 population 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 DNA methylation Source: ARUK-UCL
- positive regulation of gene expression Source: ARUK-UCL
- 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 pri-miRNA transcription by RNA polymerase II Source: ARUK-UCL
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: ARUK-UCL
- 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
PathwayCommonsi | P19544 |
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 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear chromatin Source: GO_Central
- nuclear speck Source: UniProtKB
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Frasier syndrome (FS)1 Publication
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
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_007746 | 366 | R → H in DDS and WT1. 4 Publications | 1 | |
Natural variantiVAR_007747 | 373 | H → Q in DDS and WT1. 1 Publication | 1 | |
Natural variantiVAR_043807 | 394 | R → L in WT1. 1 Publication | 1 |
Denys-Drash syndrome (DDS)17 Publications
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_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_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_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_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
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_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_007751 | 396 | D → N in DDS and NPHS4. 3 Publications | 1 | |
Natural variantiVAR_043810 | 397 | H → P in NPHS4. 2 Publications | 1 |
Meacham syndrome (MEACHS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_007745 | 366 | R → C in WT1, DDS and MEACHS. 4 Publications | 1 |
Mesothelioma, malignant (MESOM)1 Publication
Mutagenesis
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 | 242, 46,XY complete gonadal dysgenesis 251510, 46,XY partial gonadal dysgenesis 220, Denys-Drash syndrome 83469, Desmoplastic small round cell tumor 347, Frasier syndrome 656, Genetic steroid-resistant nephrotic syndrome 3097, Meacham syndrome 654, Nephroblastoma 893, WAGR syndrome |
PharmGKBi | PA37395 |
Miscellaneous databases
Pharosi | P19544, Tbio |
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
jPOSTi | P19544 |
MassIVEi | P19544 |
MaxQBi | P19544 |
PaxDbi | P19544 |
PeptideAtlasi | P19544 |
PRIDEi | P19544 |
ProteomicsDBi | 53673 [P19544-1] 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
Gene expression databases
Bgeei | ENSG00000184937, Expressed in germinal epithelium of ovary and 130 other tissues |
ExpressionAtlasi | P19544, baseline and differential |
Genevisiblei | P19544, HS |
Organism-specific databases
HPAi | ENSG00000184937, Tissue enhanced (endometrium, fallopian tube, ovary) |
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 PublicationsBinary interactionsi
Hide detailsP19544
With | #Exp. | IntAct |
---|---|---|
KRT40 [Q6A162] | 4 | EBI-2320534,EBI-10171697 |
KRTAP10-8 [P60410] | 3 | EBI-2320534,EBI-10171774 |
TET2 [Q6N021] | 9 | EBI-2320534,EBI-310727 |
Isoform 6 [P19544-6]
GO - Molecular functioni
- C2H2 zinc finger domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 113327, 63 interactors |
IntActi | P19544, 27 interactors |
MINTi | P19544 |
STRINGi | 9606.ENSP00000331327 |
Miscellaneous databases
RNActi | P19544, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P19544 |
SMRi | P19544 |
ModBasei | Search... |
PDBe-KBi | 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 | 236 – 244 | 9aaTAD1 Publication | 9 | |
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
Sequence similaritiesi
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 |
GeneTreei | ENSGT00940000156734 |
InParanoidi | P19544 |
OrthoDBi | 1318335at2759 |
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 | PTHR23235:SF49, PTHR23235:SF49, 1 hit |
Pfami | View protein in Pfam PF02165, WT1, 1 hit PF00096, zf-C2H2, 2 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 |
s (8+)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing and alternative initiation. AlignAdd to basketThis entry has 8 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM
250-266: Missing.
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y7K5 | H0Y7K5_HUMAN | Wilms tumor protein | WT1 | 519 | Annotation score: | ||
J3KNN9 | J3KNN9_HUMAN | Wilms tumor protein | WT1 | 502 | Annotation score: | ||
A0A0A0MT54 | A0A0A0MT54_HUMAN | Wilms tumor protein | WT1 | 522 | Annotation score: | ||
A0A1W2PR07 | A0A1W2PR07_HUMAN | Wilms tumor protein | WT1 | 297 | Annotation score: | ||
A0A1W2PQQ0 | A0A1W2PQQ0_HUMAN | Wilms tumor protein | WT1 | 505 | Annotation score: | ||
H0YED9 | H0YED9_HUMAN | Wilms tumor protein | WT1 | 178 | Annotation score: | ||
H0Y3F0 | H0Y3F0_HUMAN | Wilms tumor protein | WT1 | 322 | Annotation score: | ||
A0A494C0I9 | A0A494C0I9_HUMAN | Wilms tumor protein | WT1 | 43 | Annotation score: |
Sequence cautioni
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 , M80217, M80218, M80219, M80220, M80221, M80228, M80229, M80231 Genomic DNA Translation: AAA61299.1 X61631 , X61632, X61633, X61634, X61635, X61636, X61637, 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] |
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 , M80217, M80218, M80219, M80220, M80221, M80228, M80229, M80231 Genomic DNA Translation: AAA61299.1 X61631 , X61632, X61633, X61634, X61635, X61636, X61637, 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] |
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 | [»] | |
6RSY | X-ray | 2.95 | C/H | 126-134 | [»] | |
BMRBi | P19544 | |||||
SMRi | P19544 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113327, 63 interactors |
IntActi | P19544, 27 interactors |
MINTi | P19544 |
STRINGi | 9606.ENSP00000331327 |
PTM databases
iPTMneti | P19544 |
PhosphoSitePlusi | P19544 |
Polymorphism and mutation databases
BioMutai | WT1 |
DMDMi | 139778 |
Proteomic databases
jPOSTi | P19544 |
MassIVEi | P19544 |
MaxQBi | P19544 |
PaxDbi | P19544 |
PeptideAtlasi | P19544 |
PRIDEi | P19544 |
ProteomicsDBi | 53673 [P19544-1] 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
ABCDi | P19544, 1 sequenced antibody |
Antibodypediai | 3523, 1083 antibodies |
DNASUi | 7490 |
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 |
HGNCi | HGNC:12796, WT1 |
HPAi | ENSG00000184937, Tissue enhanced (endometrium, fallopian tube, ovary) |
MalaCardsi | WT1 |
MIMi | 136680, phenotype 156240, phenotype 194070, phenotype 194080, phenotype 256370, phenotype 607102, gene 608978, phenotype |
neXtProti | NX_P19544 |
OpenTargetsi | ENSG00000184937 |
Orphaneti | 242, 46,XY complete gonadal dysgenesis 251510, 46,XY partial gonadal dysgenesis 220, Denys-Drash syndrome 83469, Desmoplastic small round cell tumor 347, Frasier syndrome 656, Genetic steroid-resistant nephrotic syndrome 3097, Meacham syndrome 654, Nephroblastoma 893, WAGR syndrome |
PharmGKBi | PA37395 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000156734 |
InParanoidi | P19544 |
OrthoDBi | 1318335at2759 |
PhylomeDBi | P19544 |
Enzyme and pathway databases
PathwayCommonsi | P19544 |
SignaLinki | P19544 |
SIGNORi | P19544 |
Miscellaneous databases
BioGRID-ORCSi | 7490, 16 hits in 872 CRISPR screens |
ChiTaRSi | WT1, human |
EvolutionaryTracei | P19544 |
GeneWikii | WT1 |
GenomeRNAii | 7490 |
Pharosi | P19544, Tbio |
PROi | PR:P19544 |
RNActi | P19544, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000184937, Expressed in germinal epithelium of ovary and 130 other tissues |
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 | PTHR23235:SF49, PTHR23235:SF49, 1 hit |
Pfami | View protein in Pfam PF02165, WT1, 1 hit PF00096, zf-C2H2, 2 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... |
MobiDBi | 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: | December 2, 2020 | |
This is version 243 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, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations