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P19544

- WT1_HUMAN

UniProt

P19544 - WT1_HUMAN

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Protein

Wilms tumor protein

Gene

WT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcription factor that plays an important role in cellular development and cell survival. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. 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. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower affinity for DNA, and can bind RNA.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei424 – 4241Important for interaction with target DNA
Sitei430 – 4301Important for interaction with target DNA

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri323 – 34725C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri353 – 37725C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri383 – 40523C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri414 – 43825C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. C2H2 zinc finger domain binding Source: UniProtKB
  2. RNA binding Source: UniProtKB-KW
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
  4. sequence-specific DNA binding Source: UniProtKB
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  6. transcription regulatory region DNA binding Source: UniProtKB
  7. zinc ion binding Source: UniProtKB

GO - Biological processi

  1. adrenal cortex formation Source: UniProtKB
  2. adrenal gland development Source: UniProtKB
  3. branching involved in ureteric bud morphogenesis Source: UniProtKB
  4. camera-type eye development Source: UniProtKB
  5. cardiac muscle cell fate commitment Source: BHF-UCL
  6. cellular response to cAMP Source: UniProtKB
  7. cellular response to gonadotropin stimulus Source: UniProtKB
  8. diaphragm development Source: UniProtKB
  9. epithelial cell differentiation Source: UniProtKB
  10. germ cell development Source: UniProtKB
  11. glomerular basement membrane development Source: UniProtKB
  12. glomerular visceral epithelial cell differentiation Source: UniProtKB
  13. glomerulus development Source: UniProtKB
  14. gonad development Source: UniProtKB
  15. heart development Source: UniProtKB
  16. kidney development Source: UniProtKB
  17. male genitalia development Source: UniProtKB
  18. male gonad development Source: UniProtKB
  19. mesenchymal to epithelial transition Source: UniProtKB
  20. metanephric epithelium development Source: UniProtKB
  21. metanephric mesenchyme development Source: UniProtKB
  22. metanephric S-shaped body morphogenesis Source: UniProtKB
  23. negative regulation of apoptotic process Source: UniProtKB
  24. negative regulation of cell growth Source: UniProtKB
  25. negative regulation of cell proliferation Source: UniProtKB
  26. negative regulation of female gonad development Source: UniProtKB
  27. negative regulation of metanephric glomerular mesangial cell proliferation Source: UniProtKB
  28. negative regulation of transcription, DNA-templated Source: UniProtKB
  29. negative regulation of transcription from RNA polymerase II promoter Source: MGI
  30. negative regulation of translation Source: UniProtKB
  31. positive regulation of apoptotic process Source: UniProtKB
  32. positive regulation of heart growth Source: UniProtKB
  33. positive regulation of male gonad development Source: UniProtKB
  34. positive regulation of metanephric ureteric bud development Source: UniProtKB
  35. positive regulation of transcription, DNA-templated Source: UniProtKB
  36. positive regulation of transcription from RNA polymerase II promoter Source: GOC
  37. posterior mesonephric tubule development Source: UniProtKB
  38. regulation of organ formation Source: UniProtKB
  39. regulation of transcription, DNA-templated Source: UniProtKB
  40. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  41. RNA splicing Source: UniProtKB
  42. sex determination Source: UniProtKB
  43. thorax and anterior abdomen determination Source: UniProtKB
  44. tissue development Source: UniProtKB
  45. ureteric bud development Source: UniProtKB
  46. vasculogenesis Source: UniProtKB
  47. visceral serous pericardium development Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, RNA-binding, Zinc

Enzyme and pathway databases

SignaLinkiP19544.

Names & Taxonomyi

Protein namesi
Recommended name:
Wilms tumor protein
Alternative name(s):
WT33
Gene namesi
Name:WT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:12796. WT1.

Subcellular locationi

Nucleus. Nucleusnucleolus. Cytoplasm By similarity
Note: Shuttles between nucleus and cytoplasm.By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nuclear speck Source: UniProtKB
  3. nucleoplasm Source: UniProtKB
  4. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Frasier syndrome (FS) [MIM:136680]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti392 – 3921F → L in FS. 1 Publication
VAR_015060
Wilms tumor 1 (WT1) [MIM:194070]: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti181 – 1811P → S in WT1. 2 Publications
Corresponds to variant rs2234584 [ dbSNP | Ensembl ].
VAR_007739
Natural varianti223 – 2231S → N in WT1. 1 Publication
VAR_007740
Natural varianti253 – 2531G → A in WT1. 1 Publication
VAR_007741
Natural varianti355 – 3551C → G in WT1. 1 Publication
VAR_043799
Natural varianti366 – 3661R → C in WT1, DDS and MEACHS. 4 Publications
VAR_007745
Natural varianti366 – 3661R → H in DDS and WT1. 4 Publications
VAR_007746
Natural varianti373 – 3731H → Q in DDS and WT1. 1 Publication
VAR_007747
Natural varianti394 – 3941R → L in WT1. 1 Publication
VAR_043807
Natural varianti394 – 3941R → W in DDS, WT1 and MEACHS. 8 Publications
VAR_007750
Denys-Drash syndrome (DDS) [MIM:194080]: 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.17 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301C → Y in DDS. 1 Publication
VAR_007743
Natural varianti342 – 3421M → R in DDS. 1 Publication
VAR_015054
Natural varianti355 – 3551C → Y in DDS. 2 Publications
VAR_015055
Natural varianti360 – 3601C → G in DDS.
VAR_007744
Natural varianti360 – 3601C → Y in DDS. 1 Publication
VAR_043800
Natural varianti366 – 3661R → C in WT1, DDS and MEACHS. 4 Publications
VAR_007745
Natural varianti366 – 3661R → H in DDS and WT1. 4 Publications
VAR_007746
Natural varianti366 – 3661R → L in DDS. 1 Publication
VAR_043802
Natural varianti369 – 3691Q → P in DDS. 1 Publication
VAR_043803
Natural varianti373 – 3731H → Q in DDS and WT1. 1 Publication
VAR_007747
Natural varianti373 – 3731H → Y in DDS. 1 Publication
VAR_015056
Natural varianti377 – 3771H → R in DDS. 1 Publication
VAR_015057
Natural varianti385 – 3851C → R in DDS. 3 Publications
VAR_015058
Natural varianti388 – 3881C → F in DDS. 1 Publication
VAR_015059
Natural varianti388 – 3881C → Y in DDS. 1 Publication
VAR_043806
Natural varianti394 – 3941R → P in DDS. 1 Publication
VAR_043808
Natural varianti394 – 3941R → Q in DDS. 2 Publications
VAR_015061
Natural varianti394 – 3941R → W in DDS, WT1 and MEACHS. 8 Publications
VAR_007750
Natural varianti396 – 3961D → G in DDS.
VAR_007752
Natural varianti396 – 3961D → N in DDS and NPHS4. 3 Publications
VAR_007751
Natural varianti396 – 3961D → Y in DDS. 1 Publication
VAR_043809
Natural varianti398 – 3981L → P in DDS. 2 Publications
VAR_015062
Natural varianti401 – 4011H → Y in DDS. 1 Publication
VAR_043811
Natural varianti405 – 4051H → R in DDS. 1 Publication
VAR_043812
Nephrotic syndrome 4 (NPHS4) [MIM:256370]: 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti312 – 3121R → Q in NPHS4. 1 Publication
VAR_015053
Natural varianti364 – 3641F → L in NPHS4. 1 Publication
VAR_043801
Natural varianti377 – 3771H → Y in NPHS4. 1 Publication
VAR_007748
Natural varianti379 – 3791G → C in NPHS4. 1 Publication
VAR_043804
Natural varianti383 – 3831F → L in NPHS4. 1 Publication
VAR_007749
Natural varianti388 – 3881C → R in NPHS4. 1 Publication
VAR_043805
Natural varianti396 – 3961D → N in DDS and NPHS4. 3 Publications
VAR_007751
Natural varianti397 – 3971H → P in NPHS4. 1 Publication
VAR_043810
Meacham syndrome (MEACHS) [MIM:608978]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti366 – 3661R → C in WT1, DDS and MEACHS. 4 Publications
VAR_007745
Natural varianti394 – 3941R → W in DDS, WT1 and MEACHS. 8 Publications
VAR_007750
A 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) [MIM:156240]: 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.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi73 – 731K → R: Abolishes sumoylation; when associated with R-177. 1 Publication
Mutagenesisi177 – 1771K → R: Abolishes sumoylation; when associated with R-77. 1 Publication
Mutagenesisi343 – 3431H → A: Reduced RNA binding. 1 Publication
Mutagenesisi366 – 3661R → A: Strongly reduced binding of DNA and RNA. 1 Publication
Mutagenesisi372 – 3721R → A: Strongly reduced binding of DNA and RNA. 1 Publication
Mutagenesisi394 – 3941R → A or S: Strongly reduced binding of DNA and RNA. 1 Publication
Mutagenesisi434 – 4341H → A: Reduced RNA binding. 1 Publication

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

MIMi136680. phenotype.
156240. phenotype.
194070. phenotype.
194080. phenotype.
256370. phenotype.
608978. phenotype.
Orphaneti251510. 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.
PharmGKBiPA37395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 449449Wilms tumor proteinPRO_0000047131Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki73 – 73Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Cross-linki177 – 177Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiP19544.
PaxDbiP19544.
PRIDEiP19544.

PTM databases

PhosphoSiteiP19544.

Expressioni

Tissue specificityi

Expressed in the kidney and a subset of hematopoietic cells.

Gene expression databases

BgeeiP19544.
CleanExiHS_WT1.
ExpressionAtlasiP19544. baseline and differential.
GenevestigatoriP19544.

Organism-specific databases

HPAiCAB000327.
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

Protein-protein interaction databases

BioGridi113327. 18 interactions.
IntActiP19544. 5 interactions.
MINTiMINT-105556.

Structurei

Secondary structure

1
449
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi322 – 3243
Turni328 – 3303
Beta strandi333 – 3375
Helixi338 – 3447
Helixi345 – 3495
Beta strandi363 – 3664
Helixi367 – 37812
Turni386 – 3883
Beta strandi391 – 3933
Helixi395 – 40612
Beta strandi418 – 4203
Beta strandi424 – 4274
Helixi428 – 4358

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1LU6model-A310-449[»]
1XF7NMR-A381-407[»]
2G7Tmodel-A310-449[»]
2G7Vmodel-A310-449[»]
2G7Wmodel-A310-449[»]
2G7Xmodel-A310-449[»]
2JP9NMR-A318-438[»]
2JPANMR-A318-438[»]
2PRTX-ray3.15A318-438[»]
3HPJX-ray2.00C/F126-134[»]
3MYJX-ray1.89C/F126-134[»]
ProteinModelPortaliP19544.
SMRiP19544. Positions 318-438.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP19544.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni367 – 38115Important for interaction with target DNAAdd
BLAST
Regioni393 – 4019Important for interaction with target DNA

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi408 – 4103KTS motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi27 – 8357Pro-richAdd
BLAST

Sequence similaritiesi

Contains 4 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri323 – 34725C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri353 – 37725C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri383 – 40523C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri414 – 43825C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00550000074455.
HOVERGENiHBG006960.
InParanoidiP19544.
KOiK09234.
OrthoDBiEOG7NPFT8.
PhylomeDBiP19544.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR017987. Wilms_tumour.
IPR000976. Wilms_tumour_N.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF02165. WT1. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
PRINTSiPR00049. WILMSTUMOUR.
SMARTiSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing and alternative initiation. Align

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.

« Hide

        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.

Length:449
Mass (Da):49,188
Last modified:August 1, 1991 - v2
Checksum:i11C7FA3D485096B2
GO
Isoform 2 (identifier: P19544-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.
     408-410: Missing.

Show »
Length:429
Mass (Da):47,195
Checksum:iC2F9912E0A4DA3DB
GO
Isoform 3 (identifier: P19544-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.

Show »
Length:432
Mass (Da):47,511
Checksum:i1ACA6CE3563DA9D2
GO
Isoform 4 (identifier: P19544-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-410: Missing.

Show »
Length:446
Mass (Da):48,872
Checksum:i8CE7FC116A41DA04
GO
Isoform 6 (identifier: P19544-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-147: RNQ → MEK
     408-410: Missing.

Show »
Length:302
Mass (Da):34,447
Checksum:i715B121077C0991D
GO
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 »
Length:522
Mass (Da):56,883
Checksum:iFB30F6E34A60EC04
GO
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 »
Length:505
Mass (Da):55,206
Checksum:iC7CE98CE8B83C250
GO
Isoform 9 (identifier: P19544-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-147: RNQ → MEK
     250-266: Missing.

Note: No experimental confirmation available.

Show »
Length:288
Mass (Da):33,086
Checksum:i9526D02081619728
GO

Sequence cautioni

The sequence AAB33443.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
The sequence CAA35956.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence CAA35956.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence CAC39220.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence CAI95758.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence CAI95759.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti288 – 2881I → M in AAH32861. (PubMed:15489334)Curated
Sequence conflicti365 – 3651S → F in AAA36810. (PubMed:2154335)Curated
Sequence conflicti365 – 3651S → F in AAB33443. (PubMed:7862533)Curated
Sequence conflicti387 – 3871T → A in CAA43819. (PubMed:1572653)Curated

RNA editingi

Partially edited.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311A → T in a patient with hypospadias. 1 Publication
VAR_043798
Natural varianti181 – 1811P → S in WT1. 2 Publications
Corresponds to variant rs2234584 [ dbSNP | Ensembl ].
VAR_007739
Natural varianti223 – 2231S → N in WT1. 1 Publication
VAR_007740
Natural varianti253 – 2531G → A in WT1. 1 Publication
VAR_007741
Natural varianti273 – 2731S → G Found in a mesothelioma sample; somatic mutation. 1 Publication
Corresponds to variant rs121907908 [ dbSNP | Ensembl ].
VAR_007742
Natural varianti281 – 2811L → P in RNA edited version.
VAR_058021
Natural varianti312 – 3121R → Q in NPHS4. 1 Publication
VAR_015053
Natural varianti330 – 3301C → Y in DDS. 1 Publication
VAR_007743
Natural varianti342 – 3421M → R in DDS. 1 Publication
VAR_015054
Natural varianti355 – 3551C → G in WT1. 1 Publication
VAR_043799
Natural varianti355 – 3551C → Y in DDS. 2 Publications
VAR_015055
Natural varianti360 – 3601C → G in DDS.
VAR_007744
Natural varianti360 – 3601C → Y in DDS. 1 Publication
VAR_043800
Natural varianti364 – 3641F → L in NPHS4. 1 Publication
VAR_043801
Natural varianti366 – 3661R → C in WT1, DDS and MEACHS. 4 Publications
VAR_007745
Natural varianti366 – 3661R → H in DDS and WT1. 4 Publications
VAR_007746
Natural varianti366 – 3661R → L in DDS. 1 Publication
VAR_043802
Natural varianti369 – 3691Q → P in DDS. 1 Publication
VAR_043803
Natural varianti373 – 3731H → Q in DDS and WT1. 1 Publication
VAR_007747
Natural varianti373 – 3731H → Y in DDS. 1 Publication
VAR_015056
Natural varianti377 – 3771H → R in DDS. 1 Publication
VAR_015057
Natural varianti377 – 3771H → Y in NPHS4. 1 Publication
VAR_007748
Natural varianti379 – 3791G → C in NPHS4. 1 Publication
VAR_043804
Natural varianti383 – 3831F → L in NPHS4. 1 Publication
VAR_007749
Natural varianti385 – 3851C → R in DDS. 3 Publications
VAR_015058
Natural varianti388 – 3881C → F in DDS. 1 Publication
VAR_015059
Natural varianti388 – 3881C → R in NPHS4. 1 Publication
VAR_043805
Natural varianti388 – 3881C → Y in DDS. 1 Publication
VAR_043806
Natural varianti392 – 3921F → L in FS. 1 Publication
VAR_015060
Natural varianti394 – 3941R → L in WT1. 1 Publication
VAR_043807
Natural varianti394 – 3941R → P in DDS. 1 Publication
VAR_043808
Natural varianti394 – 3941R → Q in DDS. 2 Publications
VAR_015061
Natural varianti394 – 3941R → W in DDS, WT1 and MEACHS. 8 Publications
VAR_007750
Natural varianti396 – 3961D → G in DDS.
VAR_007752
Natural varianti396 – 3961D → N in DDS and NPHS4. 3 Publications
VAR_007751
Natural varianti396 – 3961D → Y in DDS. 1 Publication
VAR_043809
Natural varianti397 – 3971H → P in NPHS4. 1 Publication
VAR_043810
Natural varianti398 – 3981L → P in DDS. 2 Publications
VAR_015062
Natural varianti401 – 4011H → Y in DDS. 1 Publication
VAR_043811
Natural varianti405 – 4051H → R in DDS. 1 Publication
VAR_043812

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 144144Missing in isoform 6 and isoform 9. 2 PublicationsVSP_037582Add
BLAST
Alternative sequencei1 – 11M → MDFLLLQDPASTCVPEPASQ HTLRSGPGCLQQPEQQGVRD PGGIWAKLGAAEASAERLQG RRSRGASGSEPQQM in isoform 7 and isoform 8. 1 PublicationVSP_037583
Alternative sequencei145 – 1473RNQ → MEK in isoform 6 and isoform 9. 2 PublicationsVSP_037584
Alternative sequencei250 – 26617Missing in isoform 2, isoform 3, isoform 8 and isoform 9. 2 PublicationsVSP_006866Add
BLAST
Alternative sequencei408 – 4103Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsVSP_006867

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS55750.1. [P19544-9]
CCDS55751.1. [P19544-6]
PIRiA38080.
RefSeqiNP_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.
UniGeneiHs.591980.

Genome annotation databases

EnsembliENST00000379079; ENSP00000368370; ENSG00000184937. [P19544-6]
ENST00000530998; ENSP00000435307; ENSG00000184937. [P19544-9]
GeneIDi7490.
KEGGihsa:7490.
UCSCiuc001mtl.2. human. [P19544-6]
uc001mtm.2. human. [P19544-9]
uc001mtq.2. human. [P19544-8]

Polymorphism databases

DMDMi139778.

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Chromosomal rearrangement, RNA editing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
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.
UniGenei Hs.591980.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali P19544.
SMRi P19544. Positions 318-438.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113327. 18 interactions.
IntActi P19544. 5 interactions.
MINTi MINT-105556.

PTM databases

PhosphoSitei P19544.

Polymorphism databases

DMDMi 139778.

Proteomic databases

MaxQBi P19544.
PaxDbi P19544.
PRIDEi P19544.

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.2. human. [P19544-6 ]
uc001mtm.2. human. [P19544-9 ]
uc001mtq.2. human. [P19544-8 ]

Organism-specific databases

CTDi 7490.
GeneCardsi GC11M032365.
GeneReviewsi WT1.
H-InvDB HIX0009531.
HGNCi HGNC:12796. WT1.
HPAi CAB000327.
HPA053848.
MIMi 136680. phenotype.
156240. phenotype.
194070. phenotype.
194080. phenotype.
256370. phenotype.
607102. gene.
608978. phenotype.
neXtProti NX_P19544.
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 COG5048.
GeneTreei ENSGT00550000074455.
HOVERGENi HBG006960.
InParanoidi P19544.
KOi K09234.
OrthoDBi EOG7NPFT8.
PhylomeDBi P19544.

Enzyme and pathway databases

SignaLinki P19544.

Miscellaneous databases

EvolutionaryTracei P19544.
GeneWikii WT1.
GenomeRNAii 7490.
NextBioi 29336.
PROi P19544.
SOURCEi Search...

Gene expression databases

Bgeei P19544.
CleanExi HS_WT1.
ExpressionAtlasi P19544. baseline and differential.
Genevestigatori P19544.

Family and domain databases

Gene3Di 3.30.160.60. 4 hits.
InterProi IPR017987. Wilms_tumour.
IPR000976. Wilms_tumour_N.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF02165. WT1. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view ]
PRINTSi PR00049. WILMSTUMOUR.
SMARTi SM00355. ZnF_C2H2. 4 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping."
    Gessler M., Poustka A., Cavenee W., Neve R.L., Orkin S.H., Bruns G.A.P.
    Nature 343:774-778(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
    Tissue: Fetal kidney.
  2. "Alternative splicing and genomic structure of the Wilms tumor gene WT1."
    Haber D.A., Sohn R.L., Buckler A.J., Pelletier J., Call K.M., Housman D.E.
    Proc. Natl. Acad. Sci. U.S.A. 88:9618-9622(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3 AND 4).
    Tissue: Placenta.
  3. "The genomic organization and expression of the WT1 gene."
    Gessler M., Konig A., Bruns G.A.P.
    Genomics 12:807-813(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 4).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 9).
    Tissue: Placenta and Testis.
  5. NIEHS SNPs program
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Testis.
  9. "Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus."
    Call K.M., Glaser T., Ito C.Y., Buckler A.J., Pelletier J., Haber D.A., Rose E.A., Kral A., Yeger H., Lewis W.H., Jones C., Housman D.E.
    Cell 60:509-520(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-449 (ISOFORM 2).
  10. "High affinity binding sites for the Wilms' tumour suppressor protein WT1."
    Hamilton T.B., Barilla K.C., Romaniuk P.J.
    Nucleic Acids Res. 23:277-284(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 301-449 (ISOFORMS 2/4/6).
    Tissue: Fetal kidney.
  11. "Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome."
    Pelletier J., Bruening W., Kashtan C.E., Mauer S.M., Manivel J.C., Striegel J.E., Houghton D.C., Junien C., Habib R., Fouser L., Fine R.N., Silverman B.L., Haber D.A., Housman D.E.
    Cell 67:437-447(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 385-405, VARIANTS DDS.
  12. "Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development."
    Bruening W., Bardeesy N., Silverman B.L., Cohn R.A., Machin G.A., Aronson A.J., Housman D., Pelletier J.
    Nat. Genet. 1:144-148(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 385-405, VARIANTS DDS TYR-330; PRO-394 AND TRP-394.
  13. "Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development."
    Buckler A.J., Pelletier J., Haber D.A., Glaser T., Housman D.E.
    Mol. Cell. Biol. 11:1707-1712(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION OF START CODON, ALTERNATIVE SPLICING.
  14. "RNA editing in the Wilms' tumor susceptibility gene, WT1."
    Sharma P.M., Bowman M., Madden S.L., Rauscher F.J. III, Sukumar S.
    Genes Dev. 8:720-731(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: RNA EDITING OF POSITION 281.
  15. "A non-AUG translational initiation event generates novel WT1 isoforms."
    Bruening W., Pelletier J.
    J. Biol. Chem. 271:8646-8654(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE INITIATION, ALTERNATIVE SPLICING (ISOFORMS 7 AND 8).
  16. "Identification of WTAP, a novel Wilms' tumour 1-associating protein."
    Little N.A., Hastie N.D., Davies R.C.
    Hum. Mol. Genet. 9:2231-2239(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WTAP.
  17. "Inhibition of Wilms tumor 1 transactivation by bone marrow zinc finger 2, a novel transcriptional repressor."
    Lee T.H., Lwu S., Kim J., Pelletier J.
    J. Biol. Chem. 277:44826-44837(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZNF224.
  18. "Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."
    Matsuzawa-Watanabe Y., Inoue J., Semba K.
    Oncogene 22:7900-7904(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SRY.
  19. "WT1: a novel tumor suppressor gene inactivated in Wilms' tumor."
    Haber D.A., Buckler A.J.
    New Biol. 4:97-106(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  20. "The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor."
    Rauscher F.J. III
    FASEB J. 7:896-903(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  21. "WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour."
    Pelletier J., Bruening W., Li F.P., Haber D.A., Glaser T., Housman D.E.
    Nature 353:431-434(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN WILMS TUMOR.
  22. "A tumor suppressor and oncogene: the WT1 story."
    Yang L., Han Y., Suarez Saiz F., Minden M.D.
    Leukemia 21:868-876(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  23. "SUMO-1 modification of the Wilms' tumor suppressor WT1."
    Smolen G.A., Vassileva M.T., Wells J., Matunis M.J., Haber D.A.
    Cancer Res. 64:7846-7851(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-73 AND LYS-177, SUMOYLATION AT LYS-73 AND LYS-177.
  24. "WT1 interacts with the splicing protein RBM4 and regulates its ability to modulate alternative splicing in vivo."
    Markus M.A., Heinrich B., Raitskin O., Adams D.J., Mangs H., Goy C., Ladomery M., Sperling R., Stamm S., Morris B.J.
    Exp. Cell Res. 312:3379-3388(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RBM4, SUBCELLULAR LOCATION.
  25. "Contribution of individual amino acids to the RNA binding activity of the Wilms' tumor suppressor protein WT1."
    Weiss T.C., Romaniuk P.J.
    Biochemistry 48:148-155(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF HIS-343; ARG-366; ARG-372; ARG-394 AND HIS-434.
  26. "The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity."
    Rivera M.N., Kim W.J., Wells J., Stone A., Burger A., Coffman E.J., Zhang J., Haber D.A.
    Proc. Natl. Acad. Sci. U.S.A. 106:8338-8343(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH AMER1, FUNCTION.
  27. "Why zinc fingers prefer zinc: ligand-field symmetry and the hidden thermodynamics of metal ion selectivity."
    Lachenmann M.J., Ladbury J.E., Dong J., Huang K., Carey P., Weiss M.A.
    Biochemistry 43:13910-13925(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 381-407 IN COMPLEX WITH ZINC IONS.
  28. "Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA."
    Stoll R., Lee B.M., Debler E.W., Laity J.H., Wilson I.A., Dyson H.J., Wright P.E.
    J. Mol. Biol. 372:1227-1245(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 318-438 IN COMPLEX WITH DNA AND ZINC IONS (ISOFORM 4), X-RAY CRYSTALLOGRAPHY (3.15 ANGSTROMS) OF 318-438 IN COMPLEX WITH DNA AND ZINC IONS.
  29. "Zinc finger point mutations within the WT1 gene in Wilms tumor patients."
    Little M.H., Prosser J., Condie A., Smith P.J., van Heyningen V., Hastie N.D.
    Proc. Natl. Acad. Sci. U.S.A. 89:4791-4795(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WT1 CYS-366.
  30. "Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome."
    Baird P.N., Santos A., Groves N., Jadresic L., Cowell J.K.
    Hum. Mol. Genet. 1:301-305(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DDS.
  31. "Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion."
    Little M.H., Williamson K.A., Mannens M., Kelsey A., Gosden C., Hastie N.D., van Heyningen V.
    Hum. Mol. Genet. 2:259-264(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DDS.
  32. "A novel zinc finger mutation in a patient with Denys-Drash syndrome."
    Baird P.N., Cowell J.K.
    Hum. Mol. Genet. 2:2193-2194(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS TYR-401.
  33. Cited for: VARIANTS DDS TRP-394 AND PRO-398.
  34. "Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities."
    Clarkson P.A., Davies H.R., Williams D.M., Chaudhary R., Hughes I.A., Patterson M.N.
    J. Med. Genet. 30:767-772(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DDS TYR-360 AND TRP-394.
  35. "The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma."
    Park S., Schalling M., Bernard A., Maheswaran S., Shipley G.C., Roberts D., Fletcher J., Shipman R., Rheinwald J., Demetri G., Griffin J., Minden M., Housman D.E., Haber D.A.
    Nat. Genet. 4:415-420(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLY-273, INVOLVEMENT IN MESOM.
  36. "WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin."
    Nordenskjold A., Friedman E., Anvret M.
    Hum. Genet. 93:115-120(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS ARG-377.
  37. "A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome."
    Tsuda M., Sakiyama T., Owada M., Chiba Y.
    Acta Paediatr. Jpn. Overseas Ed. 38:265-266(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS LEU-366.
  38. "A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome."
    Ghahremani M., Chan C.B., Bistritzer T., Aladjem M.M., Tieder M., Pelletier J.
    Hum. Hered. 46:336-338(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS TYR-373.
  39. "Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology."
    Schumacher V., Schneider S., Figge A., Wildhardt G., Harms D., Schmidt D., Weirich A., Ludwig R., Royer-Pokora B.
    Proc. Natl. Acad. Sci. U.S.A. 94:3972-3977(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WT1 SER-181 AND ALA-253.
  40. "Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database."
    Jeanpierre C., Denamur E., Henry I., Cabanis M.-O., Luce S., Cecille A., Elion J., Peuchmaur M., Loirat C., Niaudet P., Gubler M.-C., Junien C.
    Am. J. Hum. Genet. 62:824-833(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS4 TYR-377; LEU-383 AND ASN-396, VARIANTS DDS CYS-366; GLN-394; TRP-394 AND PRO-398, VARIANT WT1 ASN-223.
  41. "Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?"
    Kikuchi H., Takata A., Akasaka Y., Fukuzawa R., Yoneyama H., Kurosawa Y., Honda M., Kamiyama Y., Hata J.
    J. Med. Genet. 35:45-48(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DDS TYR-355; HIS-366 AND ARG-385.
  42. Cited for: VARIANTS NPHS4 LEU-364; HIS-366; CYS-379; ARG-385; GLN-394; TRP-394 AND ASN-396.
  43. "Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome."
    Kohsaka T., Tagawa M., Takekoshi Y., Yanagisawa H., Tadokoro K., Yamada M.
    Hum. Mutat. 14:466-470(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FS LEU-392.
  44. "Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome."
    Little M., Carman G., Donaldson E.
    Hum. Mutat. 15:389-389(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS TYR-396.
  45. "Constitutional WT1 correlate with clinical features in children with progressive nephropathy."
    Takata A., Kikuchi H., Fukuzawa R., Ito S., Honda M., Hata J.
    J. Med. Genet. 37:698-701(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DDS ARG-342; TYR-355; HIS-366; ARG-385; PHE-388; TRP-394 AND ASN-396, VARIANT NPHS4 GLN-312.
  46. "A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations."
    Ohta S., Ozawa T., Izumino K., Sakuragawa N., Fuse H.
    J. Urol. 163:1857-1858(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS PRO-369.
  47. "Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome."
    Swiatecka-Urban A., Mokrzycki M.H., Kaskel F., Da Silva F., Denamur E.
    Pediatr. Nephrol. 16:627-630(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS TYR-388.
  48. "Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development."
    Royer-Pokora B., Beier M., Henzler M., Alam R., Schumacher V., Weirich A., Huff V.
    Am. J. Med. Genet. A 127:249-257(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WT1 SER-181; GLY-355; CYS-366; HIS-366; GLN-373; TRP-394 AND LEU-394.
  49. "Mutation analysis of five candidate genes in Chinese patients with hypospadias."
    Wang Y., Li Q., Xu J., Liu Q., Wang W., Lin Y., Ma F., Chen T., Li S., Shen Y.
    Eur. J. Hum. Genet. 12:706-712(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-131.
  50. Cited for: VARIANTS NPHS4 ARG-388 AND PRO-397.
  51. "A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis."
    Hu M., Craig J., Howard N., Kan A., Chaitow J., Little D., Alexander S.I.
    Pediatr. Nephrol. 19:1160-1163(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DDS ARG-405.
  52. "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations."
    Suri M., Kelehan P., O'neill D., Vadeyar S., Grant J., Ahmed S.F., Tolmie J., McCann E., Lam W., Smith S., FitzPatrick D., Hastie N.D., Reardon W.
    Am. J. Med. Genet. A 143:2312-2320(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MEACHS CYS-366 AND TRP-394.

Entry informationi

Entry nameiWT1_HUMAN
AccessioniPrimary (citable) accession number: P19544
Secondary accession number(s): A8K6S1
, B3KSA5, Q15881, Q16256, Q16575, Q4VXV4, Q4VXV5, Q4VXV6, Q8IYZ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: August 1, 1991
Last modified: October 29, 2014
This is version 188 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Miscellaneous

Presence of the KTS motif hinders interactions between DNA and zinc-finger 4.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3