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P19544

- WT1_HUMAN

UniProt

P19544 - WT1_HUMAN

Protein

Wilms tumor protein

Gene

WT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 187 (01 Oct 2014)
      Sequence version 2 (01 Aug 1991)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    3. RNA binding Source: UniProtKB-KW
    4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
    5. sequence-specific DNA binding Source: UniProtKB
    6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    7. transcription regulatory region DNA binding Source: UniProtKB
    8. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. adrenal cortex formation Source: UniProtKB
    2. adrenal gland development Source: UniProtKB
    3. apoptotic DNA fragmentation Source: UniProtKB
    4. branching involved in ureteric bud morphogenesis Source: UniProtKB
    5. camera-type eye development Source: UniProtKB
    6. cardiac muscle cell fate commitment Source: BHF-UCL
    7. cellular response to cAMP Source: UniProtKB
    8. cellular response to gonadotropin stimulus Source: UniProtKB
    9. diaphragm development Source: UniProtKB
    10. epithelial cell differentiation Source: UniProtKB
    11. germ cell development Source: UniProtKB
    12. glomerular basement membrane development Source: UniProtKB
    13. glomerular visceral epithelial cell differentiation Source: UniProtKB
    14. glomerulus development Source: UniProtKB
    15. gonad development Source: UniProtKB
    16. heart development Source: UniProtKB
    17. kidney development Source: UniProtKB
    18. male genitalia development Source: UniProtKB
    19. male gonad development Source: UniProtKB
    20. mesenchymal to epithelial transition Source: UniProtKB
    21. metanephric epithelium development Source: UniProtKB
    22. metanephric mesenchyme development Source: UniProtKB
    23. metanephric S-shaped body morphogenesis Source: UniProtKB
    24. negative regulation of apoptotic process Source: UniProtKB
    25. negative regulation of cell growth Source: UniProtKB
    26. negative regulation of cell proliferation Source: UniProtKB
    27. negative regulation of female gonad development Source: UniProtKB
    28. negative regulation of metanephric glomerular mesangial cell proliferation Source: UniProtKB
    29. negative regulation of transcription, DNA-templated Source: UniProtKB
    30. negative regulation of transcription from RNA polymerase II promoter Source: MGI
    31. negative regulation of translation 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

    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

    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

    ArrayExpressiP19544.
    BgeeiP19544.
    CleanExiHS_WT1.
    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.
    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

    MGSDVRDLNA LLPAVPSLGG GGGCALPVSG AAQWAPVLDF APPGASAYGS    50
    LGGPAPPPAP PPPPPPPPHS FIKQEPSWGG AEPHEEQCLS AFTVHFSGQF 100
    TGTAGACRYG PFGPPPPSQA SSGQARMFPN APYLPSCLES QPAIRNQGYS 150
    TVTFDGTPSY GHTPSHHAAQ FPNHSFKHED PMGQQGSLGE QQYSVPPPVY 200
    GCHTPTDSCT GSQALLLRTP YSSDNLYQMT SQLECMTWNQ MNLGATLKGV 250
    AAGSSSSVKW TEGQSNHSTG YESDNHTTPI LCGAQYRIHT HGVFRGIQDV 300
    RRVPGVAPTL VRSASETSEK RPFMCAYPGC NKRYFKLSHL QMHSRKHTGE 350
    KPYQCDFKDC ERRFSRSDQL KRHQRRHTGV KPFQCKTCQR KFSRSDHLKT 400
    HTRTHTGKTS EKPFSCRWPS CQKKFARSDE LVRHHNMHQR NMTKLQLAL 449

    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.
    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

    ArrayExpressi P19544.
    Bgeei P19544.
    CleanExi HS_WT1.
    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

    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 1, 2014
    This is version 187 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