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P19544 (WT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 183. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Wilms tumor protein
Alternative name(s):
WT33
Gene names
Name:WT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length449 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.25 Ref.26

Subunit structure

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. Ref.16 Ref.17 Ref.18 Ref.24 Ref.26

Subcellular location

Nucleus. Nucleusnucleolus. Cytoplasm By similarity. Note: Shuttles between nucleus and cytoplasm By similarity. Ref.23 Ref.24

Isoform 1: Nucleus speckle Ref.23 Ref.24.

Isoform 4: Nucleusnucleoplasm Ref.23 Ref.24.

Tissue specificity

Expressed in the kidney and a subset of hematopoietic cells.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.43

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.29 Ref.39 Ref.40 Ref.48

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.36 Ref.37 Ref.38 Ref.40 Ref.41 Ref.44 Ref.45 Ref.46 Ref.47 Ref.51

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.40 Ref.42 Ref.45 Ref.50

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.52

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.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.35

Miscellaneous

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

Sequence similarities

Belongs to the EGR C2H2-type zinc-finger protein family.

Contains 4 C2H2-type zinc fingers.

RNA editing

Edited at position 281.
Partially edited. Ref.14

Sequence caution

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: Erroneous initiation. Translation N-terminally shortened.

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 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.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative initiation
Alternative splicing
Chromosomal rearrangement
RNA editing
   DiseaseDisease mutation
Tumor suppressor
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
RNA-binding
Zinc
   PTMIsopeptide bond
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processRNA splicing

Inferred from sequence or structural similarity. Source: UniProtKB

adrenal cortex formation

Inferred from sequence or structural similarity. Source: UniProtKB

adrenal gland development

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

apoptotic DNA fragmentation

Inferred from direct assay PubMed 7588596. Source: UniProtKB

branching involved in ureteric bud morphogenesis

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

camera-type eye development

Inferred from sequence or structural similarity. Source: UniProtKB

cardiac muscle cell fate commitment

Inferred from sequence or structural similarity. Source: BHF-UCL

cellular response to cAMP

Inferred from expression pattern PubMed 15961562. Source: UniProtKB

cellular response to gonadotropin stimulus

Inferred from direct assay PubMed 15961562. Source: UniProtKB

diaphragm development

Inferred from sequence or structural similarity. Source: UniProtKB

epithelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

germ cell development

Inferred from sequence or structural similarity. Source: UniProtKB

glomerular basement membrane development

Inferred from mutant phenotype PubMed 19205749. Source: UniProtKB

glomerular visceral epithelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

glomerulus development

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

gonad development

Inferred from sequence or structural similarity. Source: UniProtKB

heart development

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

kidney development

Inferred from genetic interaction PubMed 11912180. Source: UniProtKB

male genitalia development

Inferred from sequence or structural similarity. Source: UniProtKB

male gonad development

Inferred from expression pattern PubMed 17848411. Source: UniProtKB

mesenchymal to epithelial transition

Inferred from sequence or structural similarity. Source: UniProtKB

metanephric S-shaped body morphogenesis

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

metanephric epithelium development

Inferred from expression pattern PubMed 7856737. Source: UniProtKB

metanephric mesenchyme development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of apoptotic process

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

negative regulation of cell growth

Inferred from direct assay PubMed 9553041PubMed 9765217PubMed 7588596. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay PubMed 9553041PubMed 9765217. Source: UniProtKB

negative regulation of female gonad development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of metanephric glomerular mesangial cell proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 7585606. Source: MGI

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 12802290PubMed 1332065PubMed 14701728PubMed 19050011PubMed 7585606PubMed 7720589PubMed 8119964PubMed 9815658PubMed 9815658PubMed 7588596PubMed 9815658PubMed 9815658. Source: UniProtKB

negative regulation of translation

Inferred from direct assay PubMed 7588596. Source: UniProtKB

positive regulation of heart growth

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of male gonad development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of metanephric ureteric bud development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: GOC

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 12802290PubMed 14701728PubMed 16467207PubMed 21390327PubMed 8132626PubMed 9178767PubMed 9553041PubMed 9765217PubMed 9815658PubMed 7588596PubMed 9815658. Source: UniProtKB

posterior mesonephric tubule development

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of organ formation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

sex determination

Inferred from direct assay PubMed 9815658. Source: UniProtKB

thorax and anterior abdomen determination

Inferred from sequence or structural similarity. Source: UniProtKB

tissue development

Inferred from sequence or structural similarity. Source: UniProtKB

ureteric bud development

Inferred from sequence or structural similarity. Source: UniProtKB

vasculogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

visceral serous pericardium development

Inferred from genetic interaction PubMed 10101119. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear speck

Inferred from direct assay Ref.24PubMed 9553041Ref.23. Source: UniProtKB

nucleoplasm

Inferred from direct assay Ref.23. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 14701728PubMed 15961562PubMed 1662794Ref.24PubMed 7588596PubMed 8306891. Source: UniProtKB

   Molecular_functionC2H2 zinc finger domain binding

Inferred from physical interaction PubMed 8119964. Source: UniProtKB

RNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from sequence or structural similarity. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay PubMed 1662794PubMed 7720589PubMed 8119964. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from direct assay PubMed 1332065PubMed 16467207PubMed 7585606PubMed 7588596PubMed 9815658. Source: UniProtKB

zinc ion binding

Inferred from direct assay Ref.27. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing and alternative initiation. [Align] [Select]
Isoform 1 (identifier: P19544-1)

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.
Note: Detected in nucleus speckle, may bind mRNA.
Isoform 2 (identifier: P19544-2)

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.
     408-410: Missing.
Isoform 3 (identifier: P19544-3)

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.
Isoform 4 (identifier: P19544-4)

The sequence of this isoform differs from the canonical sequence as follows:
     408-410: Missing.
Isoform 6 (identifier: P19544-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-147: RNQ → MEK
     408-410: Missing.
Isoform 7 (identifier: P19544-7)

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.
Isoform 8 (identifier: P19544-8)

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.
Isoform 9 (identifier: P19544-9)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 449449Wilms tumor protein
PRO_0000047131

Regions

Zinc finger323 – 34725C2H2-type 1
Zinc finger353 – 37725C2H2-type 2
Zinc finger383 – 40523C2H2-type 3
Zinc finger414 – 43825C2H2-type 4
Region367 – 38115Important for interaction with target DNA
Region393 – 4019Important for interaction with target DNA
Motif408 – 4103KTS motif
Compositional bias27 – 8357Pro-rich

Sites

Site4241Important for interaction with target DNA
Site4301Important for interaction with target DNA

Amino acid modifications

Cross-link73Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.23
Cross-link177Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.23

Natural variations

Alternative sequence1 – 144144Missing in isoform 6 and isoform 9.
VSP_037582
Alternative sequence11M → MDFLLLQDPASTCVPEPASQ HTLRSGPGCLQQPEQQGVRD PGGIWAKLGAAEASAERLQG RRSRGASGSEPQQM in isoform 7 and isoform 8.
VSP_037583
Alternative sequence145 – 1473RNQ → MEK in isoform 6 and isoform 9.
VSP_037584
Alternative sequence250 – 26617Missing in isoform 2, isoform 3, isoform 8 and isoform 9.
VSP_006866
Alternative sequence408 – 4103Missing in isoform 2, isoform 4 and isoform 6.
VSP_006867
Natural variant1311A → T in a patient with hypospadias. Ref.49
VAR_043798
Natural variant1811P → S in WT1. Ref.39 Ref.48
Corresponds to variant rs2234584 [ dbSNP | Ensembl ].
VAR_007739
Natural variant2231S → N in WT1. Ref.40
VAR_007740
Natural variant2531G → A in WT1. Ref.39
VAR_007741
Natural variant2731S → G Found in a mesothelioma sample; somatic mutation. Ref.35
Corresponds to variant rs121907908 [ dbSNP | Ensembl ].
VAR_007742
Natural variant2811L → P in RNA edited version.
VAR_058021
Natural variant3121R → Q in NPHS4. Ref.45
VAR_015053
Natural variant3301C → Y in DDS. Ref.12
VAR_007743
Natural variant3421M → R in DDS. Ref.45
VAR_015054
Natural variant3551C → G in WT1. Ref.48
VAR_043799
Natural variant3551C → Y in DDS. Ref.41 Ref.45
VAR_015055
Natural variant3601C → G in DDS.
VAR_007744
Natural variant3601C → Y in DDS. Ref.34
VAR_043800
Natural variant3641F → L in NPHS4. Ref.42
VAR_043801
Natural variant3661R → C in WT1, DDS and MEACHS. Ref.29 Ref.40 Ref.48 Ref.52
VAR_007745
Natural variant3661R → H in DDS and WT1. Ref.41 Ref.42 Ref.45 Ref.48
VAR_007746
Natural variant3661R → L in DDS. Ref.37
VAR_043802
Natural variant3691Q → P in DDS. Ref.46
VAR_043803
Natural variant3731H → Q in DDS and WT1. Ref.48
VAR_007747
Natural variant3731H → Y in DDS. Ref.38
VAR_015056
Natural variant3771H → R in DDS. Ref.36
VAR_015057
Natural variant3771H → Y in NPHS4. Ref.40
VAR_007748
Natural variant3791G → C in NPHS4. Ref.42
VAR_043804
Natural variant3831F → L in NPHS4. Ref.40
VAR_007749
Natural variant3851C → R in DDS. Ref.41 Ref.42 Ref.45
VAR_015058
Natural variant3881C → F in DDS. Ref.45
VAR_015059
Natural variant3881C → R in NPHS4. Ref.50
VAR_043805
Natural variant3881C → Y in DDS. Ref.47
VAR_043806
Natural variant3921F → L in FS. Ref.43
VAR_015060
Natural variant3941R → L in WT1. Ref.48
VAR_043807
Natural variant3941R → P in DDS. Ref.12
VAR_043808
Natural variant3941R → Q in DDS. Ref.40 Ref.42
VAR_015061
Natural variant3941R → W in DDS, WT1 and MEACHS. Ref.12 Ref.33 Ref.34 Ref.40 Ref.42 Ref.45 Ref.48 Ref.52
VAR_007750
Natural variant3961D → G in DDS.
VAR_007752
Natural variant3961D → N in DDS and NPHS4. Ref.40 Ref.42 Ref.45
VAR_007751
Natural variant3961D → Y in DDS. Ref.44
VAR_043809
Natural variant3971H → P in NPHS4. Ref.50
VAR_043810
Natural variant3981L → P in DDS. Ref.33 Ref.40
VAR_015062
Natural variant4011H → Y in DDS. Ref.32
VAR_043811
Natural variant4051H → R in DDS. Ref.51
VAR_043812

Experimental info

Mutagenesis731K → R: Abolishes sumoylation; when associated with R-177. Ref.23
Mutagenesis1771K → R: Abolishes sumoylation; when associated with R-77. Ref.23
Mutagenesis3431H → A: Reduced RNA binding. Ref.25
Mutagenesis3661R → A: Strongly reduced binding of DNA and RNA. Ref.25
Mutagenesis3721R → A: Strongly reduced binding of DNA and RNA. Ref.25
Mutagenesis3941R → A or S: Strongly reduced binding of DNA and RNA. Ref.25
Mutagenesis4341H → A: Reduced RNA binding. Ref.25
Sequence conflict2881I → M in AAH32861. Ref.8
Sequence conflict3651S → F in AAA36810. Ref.9
Sequence conflict3651S → F in AAB33443. Ref.10
Sequence conflict3871T → A in CAA43819. Ref.3

Secondary structure

....................... 449
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1991. Version 2.
Checksum: 11C7FA3D485096B2

FASTA44949,188
        10         20         30         40         50         60 
MGSDVRDLNA LLPAVPSLGG GGGCALPVSG AAQWAPVLDF APPGASAYGS LGGPAPPPAP 

        70         80         90        100        110        120 
PPPPPPPPHS FIKQEPSWGG AEPHEEQCLS AFTVHFSGQF TGTAGACRYG PFGPPPPSQA 

       130        140        150        160        170        180 
SSGQARMFPN APYLPSCLES QPAIRNQGYS TVTFDGTPSY GHTPSHHAAQ FPNHSFKHED 

       190        200        210        220        230        240 
PMGQQGSLGE QQYSVPPPVY GCHTPTDSCT GSQALLLRTP YSSDNLYQMT SQLECMTWNQ 

       250        260        270        280        290        300 
MNLGATLKGV AAGSSSSVKW TEGQSNHSTG YESDNHTTPI LCGAQYRIHT HGVFRGIQDV 

       310        320        330        340        350        360 
RRVPGVAPTL VRSASETSEK RPFMCAYPGC NKRYFKLSHL QMHSRKHTGE KPYQCDFKDC 

       370        380        390        400        410        420 
ERRFSRSDQL KRHQRRHTGV KPFQCKTCQR KFSRSDHLKT HTRTHTGKTS EKPFSCRWPS 

       430        440 
CQKKFARSDE LVRHHNMHQR NMTKLQLAL 

« Hide

Isoform 2 [UniParc].

Checksum: C2F9912E0A4DA3DB
Show »

FASTA42947,195
Isoform 3 [UniParc].

Checksum: 1ACA6CE3563DA9D2
Show »

FASTA43247,511
Isoform 4 [UniParc].

Checksum: 8CE7FC116A41DA04
Show »

FASTA44648,872
Isoform 6 [UniParc].

Checksum: 715B121077C0991D
Show »

FASTA30234,447
Isoform 7 [UniParc].

Checksum: FB30F6E34A60EC04
Show »

FASTA52256,883
Isoform 8 [UniParc].

Checksum: C7CE98CE8B83C250
Show »

FASTA50555,206
Isoform 9 [UniParc].

Checksum: 9526D02081619728
Show »

FASTA28833,086

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Molecular analysis of two Japanese cases of Denys-Drash syndrome."
Tsuda M., Sakiyama T., Kitagawa T., Watanabe S., Watanabe T., Takahashi S., Kawaguchi H., Ito K.
J. Inherit. Metab. Dis. 16:876-880(1993) [PubMed] [Europe PMC] [Abstract]
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]"Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations."
Schumacher V., Schaerer K., Wuehl E., Altrogge H., Bonzel K.-E., Guschmann M., Neuhaus T.J., Pollastro R.M., Kuwertz-Broeking E., Bulla M., Tondera A.-M., Mundel P., Helmchen U., Waldherr R., Weirich A., Royer-Pokora B.
Kidney Int. 53:1594-1600(1998) [PubMed] [Europe PMC] [Abstract]
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]"Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome."
Members of the APN study group
Ruf R.G., Schultheiss M., Lichtenberger A., Karle S.M., Zalewski I., Mucha B., Everding A.S., Neuhaus T., Patzer L., Plank C., Haas J.P., Ozaltin F., Imm A., Fuchshuber A., Bakkaloglu A., Hildebrandt F.
Kidney Int. 66:564-570(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X51630 mRNA. Translation: CAA35956.1. Sequence problems.
M80232 expand/collapse EMBL AC list , M80217, M80218, M80219, M80220, M80221, M80228, M80229, M80231 Genomic DNA. Translation: AAA61299.1.
X61631 expand/collapse EMBL AC list , 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.
PIRA38080.
RefSeqNP_000369.3. NM_000378.4.
NP_001185480.1. NM_001198551.1.
NP_001185481.1. NM_001198552.1.
NP_077742.2. NM_024424.3.
NP_077744.3. NM_024426.4.
UniGeneHs.591980.

3D structure databases

PDBe
RCSB PDB
PDBj
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/F127-134[»]
ProteinModelPortalP19544.
SMRP19544. Positions 250-438.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113327. 18 interactions.
IntActP19544. 5 interactions.
MINTMINT-105556.

PTM databases

PhosphoSiteP19544.

Polymorphism databases

DMDM139778.

Proteomic databases

PaxDbP19544.
PRIDEP19544.

Protocols and materials databases

DNASU7490.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000379079; ENSP00000368370; ENSG00000184937. [P19544-6]
ENST00000530998; ENSP00000435307; ENSG00000184937. [P19544-9]
GeneID7490.
KEGGhsa:7490.
UCSCuc001mtl.2. human. [P19544-6]
uc001mtm.2. human. [P19544-9]
uc001mtq.2. human. [P19544-8]

Organism-specific databases

CTD7490.
GeneCardsGC11M032365.
H-InvDBHIX0009531.
HGNCHGNC:12796. WT1.
HPACAB000327.
HPA053848.
MIM136680. phenotype.
156240. phenotype.
194070. phenotype.
194080. phenotype.
256370. phenotype.
607102. gene.
608978. phenotype.
neXtProtNX_P19544.
Orphanet251510. 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.
PharmGKBPA37395.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOVERGENHBG006960.
InParanoidP19544.
KOK09234.
OrthoDBEOG7NPFT8.
PhylomeDBP19544.

Enzyme and pathway databases

SignaLinkP19544.

Gene expression databases

ArrayExpressP19544.
BgeeP19544.
CleanExHS_WT1.
GenevestigatorP19544.

Family and domain databases

Gene3D3.30.160.60. 4 hits.
InterProIPR017987. Wilms_tumour.
IPR000976. Wilms_tumour_N.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF02165. WT1. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
PRINTSPR00049. WILMSTUMOUR.
SMARTSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP19544.
GeneWikiWT1.
GenomeRNAi7490.
NextBio29336.
PROP19544.
SOURCESearch...

Entry information

Entry nameWT1_HUMAN
AccessionPrimary (citable) accession number: P19544
Secondary accession number(s): A8K6S1 expand/collapse secondary AC list , B3KSA5, Q15881, Q16256, Q16575, Q4VXV4, Q4VXV5, Q4VXV6, Q8IYZ5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: August 1, 1991
Last modified: April 16, 2014
This is version 183 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM