[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). TISSUE=Fetal kidney; DOI=10.1038/343774a0; PubMed=2154702 [NCBI, ExPASy, EBI, Israel, Japan] Gessler M., Poustka A., Cavenee W., Neve R.L., Orkin S.H., Bruns G.A.P.; "Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping."; Nature 343:774-778(1990).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), AND ALTERNATIVE SPLICING. TISSUE=Placenta; DOI=10.1073/pnas.88.21.9618; PubMed=1658787 [NCBI, ExPASy, EBI, Israel, Japan] Haber D.A., Sohn R.L., Buckler A.J., Pelletier J., Call K.M., Housman D.E.; "Alternative splicing and genomic structure of the Wilms tumor gene WT1."; Proc. Natl. Acad. Sci. U.S.A. 88:9618-9622(1991).
[3]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 4). DOI=10.1016/0888-7543(92)90313-H; PubMed=1572653 [NCBI, ExPASy, EBI, Israel, Japan] Gessler M., Konig A., Bruns G.A.P.; "The genomic organization and expression of the WT1 gene."; Genomics 12:807-813(1992).
[4]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. NIEHS SNPs program; Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
[5]	NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. DOI=10.1038/nature04632; PubMed=16554811 [NCBI, ExPASy, EBI, Israel, Japan] 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., 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.; "Human chromosome 11 DNA sequence and analysis including novel gene identification."; Nature 440:497-500(2006).
[6]	NUCLEOTIDE SEQUENCE [MRNA] OF 85-449 (ISOFORMS 2/5). DOI=10.1016/0092-8674(90)90601-A; PubMed=2154335 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus."; Cell 60:509-520(1990).
[7]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 148-449 (ISOFORM 4). TISSUE=Testis; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[8]	NUCLEOTIDE SEQUENCE [MRNA] OF 301-449. TISSUE=Fetal kidney; DOI=10.1093/nar/23.2.277; PubMed=7862533 [NCBI, ExPASy, EBI, Israel, Japan] Hamilton T.B., Barilla K.C., Romaniuk P.J.; "High affinity binding sites for the Wilms' tumour suppressor protein WT1."; Nucleic Acids Res. 23:277-284(1995).
[9]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 385-405, AND VARIANTS DDS. DOI=10.1016/0092-8674(91)90194-4; PubMed=1655284 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome."; Cell 67:437-447(1991).
[10]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 385-405, AND VARIANTS DDS TYR-330; PRO-394 AND TRP-394. DOI=10.1038/ng0592-144; PubMed=1302008 [NCBI, ExPASy, EBI, Israel, Japan] Bruening W., Bardeesy N., Silverman B.L., Cohn R.A., Machin G.A., Aronson A.J., Housman D., Pelletier J.; "Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development."; Nat. Genet. 1:144-148(1992).
[11]	IDENTIFICATION OF START CODON, AND ALTERNATIVE SPLICING. PubMed=1671709 [NCBI, ExPASy, EBI, Israel, Japan] Buckler A.J., Pelletier J., Haber D.A., Glaser T., Housman D.E.; "Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development."; Mol. Cell. Biol. 11:1707-1712(1991).
[12]	INTERACTION WITH WTAP. PubMed=11001926 [NCBI, ExPASy, EBI, Israel, Japan] Little N.A., Hastie N.D., Davies R.C.; "Identification of WTAP, a novel Wilms' tumour 1-associating protein."; Hum. Mol. Genet. 9:2231-2239(2000).
[13]	INTERACTION WITH ZNF224. DOI=10.1074/jbc.M205667200; PubMed=12239212 [NCBI, ExPASy, EBI, Israel, Japan] Lee T.H., Lwu S., Kim J., Pelletier J.; "Inhibition of Wilms tumor 1 transactivation by bone marrow zinc finger 2, a novel transcriptional repressor."; J. Biol. Chem. 277:44826-44837(2002).
[14]	INTERACTION WITH SRY. DOI=10.1038/sj.onc.1206717; PubMed=12970737 [NCBI, ExPASy, EBI, Israel, Japan] Matsuzawa-Watanabe Y., Inoue J., Semba K.; "Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."; Oncogene 22:7900-7904(2003).
[15]	REVIEW. PubMed=1313285 [NCBI, ExPASy, EBI, Israel, Japan] Haber D.A., Buckler A.J.; "WT1: a novel tumor suppressor gene inactivated in Wilms' tumor."; New Biol. 4:97-106(1992).
[16]	REVIEW. PubMed=8393820 [NCBI, ExPASy, EBI, Israel, Japan] Rauscher F.J. III; "The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor."; FASEB J. 7:896-903(1993).
[17]	INVOLVEMENT IN WAGR SYNDROME. DOI=10.1038/353431a0; PubMed=1654525 [NCBI, ExPASy, EBI, Israel, Japan] Pelletier J., Bruening W., Li F.P., Haber D.A., Glaser T., Housman D.E.; "WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour."; Nature 353:431-434(1991).
[18]	VARIANT WT1 CYS-366. DOI=10.1073/pnas.89.11.4791; PubMed=1317572 [NCBI, ExPASy, EBI, Israel, Japan] Little M.H., Prosser J., Condie A., Smith P.J., van Heyningen V., Hastie N.D.; "Zinc finger point mutations within the WT1 gene in Wilms tumor patients."; Proc. Natl. Acad. Sci. U.S.A. 89:4791-4795(1992).
[19]	VARIANTS DDS. DOI=10.1093/hmg/1.5.301; PubMed=1338906 [NCBI, ExPASy, EBI, Israel, Japan] Baird P.N., Santos A., Groves N., Jadresic L., Cowell J.K.; "Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome."; Hum. Mol. Genet. 1:301-305(1992).
[20]	VARIANTS DDS. DOI=10.1093/hmg/2.3.259; PubMed=8388765 [NCBI, ExPASy, EBI, Israel, Japan] Little M.H., Williamson K.A., Mannens M., Kelsey A., Gosden C., Hastie N.D., van Heyningen V.; "Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion."; Hum. Mol. Genet. 2:259-264(1993).
[21]	VARIANT DDS TYR-401. DOI=10.1093/hmg/2.12.2193; PubMed=8111391 [NCBI, ExPASy, EBI, Israel, Japan] Baird P.N., Cowell J.K.; "A novel zinc finger mutation in a patient with Denys-Drash syndrome."; Hum. Mol. Genet. 2:2193-2194(1993).
[22]	VARIANTS DDS TRP-394 AND PRO-398. DOI=10.1007/BF00714282; PubMed=8295405 [NCBI, ExPASy, EBI, Israel, Japan] Tsuda M., Sakiyama T., Kitagawa T., Watanabe S., Watanabe T., Takahashi S., Kawaguchi H., Ito K.; "Molecular analysis of two Japanese cases of Denys-Drash syndrome."; J. Inherit. Metab. Dis. 16:876-880(1993).
[23]	VARIANTS DDS TYR-360 AND TRP-394. PubMed=8411073 [NCBI, ExPASy, EBI, Israel, Japan] Clarkson P.A., Davies H.R., Williams D.M., Chaudhary R., Hughes I.A., Patterson M.N.; "Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities."; J. Med. Genet. 30:767-772(1993).
[24]	VARIANT MESOTHELIOMA GLY-273. DOI=10.1038/ng0893-415; PubMed=8401592 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma."; Nat. Genet. 4:415-420(1993).
[25]	VARIANT DDS ARG-377. DOI=10.1007/BF00210593; PubMed=8112732 [NCBI, ExPASy, EBI, Israel, Japan] Nordenskjold A., Friedman E., Anvret M.; "WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin."; Hum. Genet. 93:115-120(1994).
[26]	VARIANT DDS LEU-366. PubMed=8741319 [NCBI, ExPASy, EBI, Israel, Japan] Tsuda M., Sakiyama T., Owada M., Chiba Y.; "A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome."; Acta Paediatr. Jpn. Overseas Ed. 38:265-266(1996).
[27]	VARIANT DDS TYR-373. PubMed=8956030 [NCBI, ExPASy, EBI, Israel, Japan] Ghahremani M., Chan C.B., Bistritzer T., Aladjem M.M., Tieder M., Pelletier J.; "A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome."; Hum. Hered. 46:336-338(1996).
[28]	VARIANTS WT1 SER-181 AND ALA-253. DOI=10.1073/pnas.94.8.3972; PubMed=9108089 [NCBI, ExPASy, EBI, Israel, Japan] Schumacher V., Schneider S., Figge A., Wildhardt G., Harms D., Schmidt D., Weirich A., Ludwig R., Royer-Pokora B.; "Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology."; Proc. Natl. Acad. Sci. U.S.A. 94:3972-3977(1997).
[29]	VARIANTS IDMS TYR-377; LEU-383 AND ASN-396, VARIANTS DDS CYS-366; GLN-394; TRP-394 AND PRO-398, AND VARIANT WT1 ASN-223. DOI=10.1086/301806; PubMed=9529364 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "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."; Am. J. Hum. Genet. 62:824-833(1998).
[30]	VARIANTS DDS TYR-355; HIS-366 AND ARG-385. PubMed=9475094 [NCBI, ExPASy, EBI, Israel, Japan] Kikuchi H., Takata A., Akasaka Y., Fukuzawa R., Yoneyama H., Kurosawa Y., Honda M., Kamiyama Y., Hata J.; "Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?"; J. Med. Genet. 35:45-48(1998).
[31]	VARIANTS NEPHROTIC SYNDROME LEU-364; HIS-366; CYS-379; ARG-385; GLN-394; TRP-394 AND ASN-396. DOI=10.1046/j.1523-1755.1998.00948.x; PubMed=9607189 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations."; Kidney Int. 53:1594-1600(1998).
[32]	VARIANT FS LEU-392. DOI=10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.3.CO;2-Y; PubMed=10571943 [NCBI, ExPASy, EBI, Israel, Japan] Kohsaka T., Tagawa M., Takekoshi Y., Yanagisawa H., Tadokoro K., Yamada M.; "Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome."; Hum. Mutat. 14:466-470(1999).
[33]	VARIANT DDS TYR-396. DOI=10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU29>3.3.CO;2-5; PubMed=10738002 [NCBI, ExPASy, EBI, Israel, Japan] Little M., Carman G., Donaldson E.; "Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome."; Hum. Mutat. 15:389-389(2000).
[34]	VARIANTS DDS ARG-342; TYR-355; HIS-366; ARG-385; PHE-388; TRP-394 AND ASN-396, AND VARIANT IDMS GLN-312. DOI=10.1136/jmg.37.9.698; PubMed=11182928 [NCBI, ExPASy, EBI, Israel, Japan] Takata A., Kikuchi H., Fukuzawa R., Ito S., Honda M., Hata J.; "Constitutional WT1 correlate with clinical features in children with progressive nephropathy."; J. Med. Genet. 37:698-701(2000).
[35]	VARIANT DDS PRO-369. DOI=10.1097/00005392-200006000-00052; PubMed=10799199 [NCBI, ExPASy, EBI, Israel, Japan] Ohta S., Ozawa T., Izumino K., Sakuragawa N., Fuse H.; "A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations."; J. Urol. 163:1857-1858(2000).
[36]	VARIANT DDS TYR-388. DOI=10.1007/s004670100626; PubMed=11519891 [NCBI, ExPASy, EBI, Israel, Japan] Swiatecka-Urban A., Mokrzycki M.H., Kaskel F., Da Silva F., Denamur E.; "Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome."; Pediatr. Nephrol. 16:627-630(2001).
[37]	VARIANTS WT1 SER-181; GLY-355; CYS-366; HIS-366; GLN-373; TRP-394 AND LEU-394. DOI=10.1002/ajmg.a.30015; PubMed=15150775 [NCBI, ExPASy, EBI, Israel, Japan] Royer-Pokora B., Beier M., Henzler M., Alam R., Schumacher V., Weirich A., Huff V.; "Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development."; Am. J. Med. Genet. A 127:249-257(2004).
[38]	VARIANT HYPOSPADIAS THR-131. DOI=10.1038/sj.ejhg.5201232; PubMed=15266301 [NCBI, ExPASy, EBI, Israel, Japan] Wang Y., Li Q., Xu J., Liu Q., Wang W., Lin Y., Ma F., Chen T., Li S., Shen Y.; "Mutation analysis of five candidate genes in Chinese patients with hypospadias."; Eur. J. Hum. Genet. 12:706-712(2004).
[39]	VARIANTS NEPHROTIC SYNDROME ARG-388 AND PRO-397. DOI=10.1111/j.1523-1755.2004.00775.x; PubMed=15253707 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome."; Kidney Int. 66:564-570(2004).
[40]	VARIANT DDS ARG-405. DOI=10.1007/s00467-004-1564-3; PubMed=15349765 [NCBI, ExPASy, EBI, Israel, Japan] Hu M., Craig J., Howard N., Kan A., Chaitow J., Little D., Alexander S.I.; "A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis."; Pediatr. Nephrol. 19:1160-1163(2004).
[41]	VARIANTS MEACHAM SYNDROME CYS-366 AND TRP-394. DOI=10.1002/ajmg.a.31924; PubMed=17853480 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations."; Am. J. Med. Genet. A 143:2312-2320(2007).

Comments

FUNCTION: Potential role in transcriptional regulation. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'.
SUBUNIT: Interacts with WTIP (By similarity). Interacts with ZNF224 via the zinc-finger region. Interacts with WTAP and SRY.
SUBCELLULAR LOCATION: Nucleus.

ALTERNATIVE PRODUCTS: 5 named isoforms [FASTA] produced by alternative splicing.

Name	1
Isoform ID	P19544-1
This is the isoform sequence displayed in this entry.

Name	2
Isoform ID	P19544-2
Features which should be applied to build the isoform sequence: VSP_006866, VSP_006867.

Name	3
Isoform ID	P19544-3
Features which should be applied to build the isoform sequence: VSP_006866.

Name	4
Isoform ID	P19544-4
Features which should be applied to build the isoform sequence: VSP_006867.

Name	5
Isoform ID	P19544-5
Note: Gene prediction based on EST data.
Features which should be applied to build the isoform sequence: VSP_026675, VSP_006866, VSP_006867.

TISSUE SPECIFICITY: Expressed in the kidney and a subset of hematopoietic cells.
DISEASE: Defects in WT1 are the cause of Frasier syndrome (FS) [MIM:136680]. FS is 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.
DISEASE: Defects in WT1 are a cause of Wilms tumor--aniridia--genitourinary anomalies--mental retardation syndrome (WAGR syndrome) [MIM:194072].
DISEASE: Defects in WT1 are the cause of Wilms tumor 1 (WT1) [MIM:194070]. WT is an embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.
DISEASE: Defects in WT1 are the cause of Denys-Drash syndrome (DDS) [MIM:194080]. DDS is a 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.
DISEASE: Defects in WT1 are the cause of isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]. IDMS is an early-onset nephrotic syndrome occurring in the absence of other abnormalities and resulting in renal failure. Inheritance is autosomal recessive.
DISEASE: Defects in WT1 are a cause of Meacham syndrome [MIM:608978]. Meacham syndrome is a 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.
DISEASE: Defects in WT1 are a cause of hypospadias. Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Hypospadias can occur alone on an apparently multifactorial basis or as part of syndromes.
DISEASE: A chromosomal aberration involving WT1 may be a cause of desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with EWSR1.
SIMILARITY: Belongs to the EGR C2H2-type zinc-finger protein family.
SIMILARITY: Contains 4 C2H2-type zinc fingers.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WT1ID78.html";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=WT1";.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/wt1/";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

X51630; CAA35956.1; ALT_INIT; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80232; AAA61299.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80217; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80218; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80219; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80220; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80221; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80228; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80229; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M80231; AAA61299.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61631; CAA43819.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61632; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61633; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61634; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61635; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61636; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61637; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X61638; CAA43819.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY245105; AAO61088.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AL049692; CAC39220.2; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M30393; AAA36810.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC032861; AAH32861.1; ALT_INIT; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S75264; AAB33443.1; ALT_INIT; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S61515; AAB20110.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S61522; AAB20111.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S61524; AAB20112.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S60755; AAC60605.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00019517; -.
IPI00215679; -.
IPI00374173; -.
IPI00550100; -.
IPI00853526; -.

PIR

A38080; A38080.

RefSeq

NP_000369.3; -.
NP_077742.2; -.
NP_077743.2; -.
NP_077744.3; -.

UniGene

Hs.591980

3D structure databases

PDB

1LU6; Model; -; A=310-449.	[ExPASy / RCSB / EBI]
1XF7; NMR; -; A=381-407.	[ExPASy / RCSB / EBI]
2G7T; Model; -; A=310-449.	[ExPASy / RCSB / EBI]
2G7V; Model; -; A=310-449.	[ExPASy / RCSB / EBI]
2G7W; Model; -; A=310-449.	[ExPASy / RCSB / EBI]
2G7X; Model; -; A=310-449.	[ExPASy / RCSB / EBI]
2PRT; X-ray; 3.15 A; A=318-438.	[ExPASy / RCSB / EBI]

Detailed list of linked structures.

PDBsum

1LU6; -.
1XF7; -.
2G7T; -.
2G7V; -.
2G7W; -.
2G7X; -.
2PRT; -.

ModBase

P19544.

PTM databases

PhosphoSite

P19544; -.

Enzyme and pathway databases

Pathway_Interaction_DB

telomerasepathway; Regulation of Telomerase.

Organism-specific databases

GeneCards

GC11M032365; -.

H-InvDB

HIX0000516; -.
HIX0009531; -.

HGNC

HGNC:12796; WT1.

GenAtlas

WT1.

MIM

136680; phenotype. [NCBI / EBI]
194070; phenotype. [NCBI / EBI]
194072; phenotype. [NCBI / EBI]
194080; phenotype. [NCBI / EBI]
256370; phenotype. [NCBI / EBI]
607102; gene. [NCBI / EBI]
608978; phenotype. [NCBI / EBI]

Orphanet

220; Denys-Drash syndrome.
347; Frasier syndrome.
3097; Meacham syndrome.
804; Mesangial sclerosis, diffuse.
654; Nephroblastoma.
84271; Nephrotic syndrome, idiopathic, steroid-resistant, sporadic.
93220; Nephrotic syndrome, idiopathic, steroid-resistant, with diffuse mesangial sclerosis, sporadic.
893; WAGR syndrome.

PharmGKB

PA37395; -.

Gene expression databases

P19544; -.

P19544; -.

HS_WT1; -.

ENSG00000184937; Homo sapiens.

Ontologies

GO:0005634;	Cellular component: nucleus (non-traceable author statement from UniProtKB).
GO:0003700;	Molecular function: transcription factor activity (non-traceable author statement from UniProtKB).
GO:0008270;	Molecular function: zinc ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0007049;	Biological process: cell cycle (inferred from electronic annotation from UniProtKB-KW).
GO:0045786;	Biological process: negative regulation of cell cycle (inferred from electronic annotation from UniProtKB-KW).
GO:0000122;	Biological process: negative regulation of transcription from RNA polymerase II promoter (inferred from direct assay from MGI).
GO:0006350;	Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.

Family and domain databases

InterPro

IPR000976; Wilms_tumour.
IPR017987; Wilms_tumour_rgn_bac.
IPR007087; Znf_C2H2.
IPR015880; Znf_C2H2-like.
IPR013087; Znf_C2H2/integrase_DNA-bd.
Graphical view of domain structure.

Gene3D

G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 4.

Pfam

PF02165; WT1; 1.
PF00096; zf-C2H2; 4.
Pfam graphical view of domain structure.

PRINTS

PR00049; WILMSTUMOUR.

ProDom

PD000003; Znf_C2H2; 2.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00355; ZnF_C2H2; 4.
SMART graphical view of domain structure.

PROSITE

PS00028; ZINC_FINGER_C2H2_1; 4.
PS50157; ZINC_FINGER_C2H2_2; 4.
PROSITE graphical view of domain structure (profiles).

Genome annotation databases

Ensembl

ENSG00000184937; Homo sapiens. [Contig view]

GeneID

7490; -.

KEGG

hsa:7490; -.

Phylogenomic databases

HOGENOM

P19544; -.

HOVERGEN

P19544; -.

Other

29336; -.

WT1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Alternative splicing; Anti-oncogene; Cell cycle; Chromosomal rearrangement; Disease mutation; DNA-binding; Metal-binding; Nucleus; Repeat; Transcription; Transcription regulation; Zinc; Zinc-finger.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 449`	`449`	`Wilms tumor protein.`	`PRO_0000047131`
`ZN_FING`	`323 347`	`25`	`C2H2-type 1.`
`ZN_FING`	`353 377`	`25`	`C2H2-type 2.`
`ZN_FING`	`383 405`	`23`	`C2H2-type 3.`
`ZN_FING`	`414 438`	`25`	`C2H2-type 4.`
`COMPBIAS`	`27 83`	`57`	`Pro-rich.`
`VAR_SEQ`	`1 1`		`M -> MQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIW` `AKLGAAEASAERLQGRRSRGASGSEPQQM (in isoform 5).`	`VSP_026675`
`VAR_SEQ`	`250 266`		`Missing (in isoform 2, isoform 3 and isoform 5).`	`VSP_006866`
`VAR_SEQ`	`408 410`		`Missing (in isoform 2, isoform 4 and isoform 5).`	`VSP_006867`
`VARIANT`	`131 131`	`1`	`A -> T (in hypospadias).`	`VAR_043798`
`VARIANT`	`181 181`	`1`	`P -> S (in WT1; dbSNP:rs2234584 [NCBI]).`	`VAR_007739`
`VARIANT`	`223 223`	`1`	`S -> N (in WT1).`	`VAR_007740`
`VARIANT`	`253 253`	`1`	`G -> A (in WT1).`	`VAR_007741`
`VARIANT`	`273 273`	`1`	`S -> G (in mesothelioma).`	`VAR_007742`
`VARIANT`	`312 312`	`1`	`R -> Q (in IDMS).`	`VAR_015053`
`VARIANT`	`330 330`	`1`	`C -> Y (in DDS).`	`VAR_007743`
`VARIANT`	`342 342`	`1`	`M -> R (in DDS).`	`VAR_015054`
`VARIANT`	`355 355`	`1`	`C -> G (in WT1).`	`VAR_043799`
`VARIANT`	`355 355`	`1`	`C -> Y (in DDS).`	`VAR_015055`
`VARIANT`	`360 360`	`1`	`C -> G (in DDS).`	`VAR_007744`
`VARIANT`	`360 360`	`1`	`C -> Y (in DDS).`	`VAR_043800`
`VARIANT`	`364 364`	`1`	`F -> L (in nephrotic syndrome).`	`VAR_043801`
`VARIANT`	`366 366`	`1`	`R -> C (in WT1, DDS and Meacham syndrome).`	`VAR_007745`
`VARIANT`	`366 366`	`1`	`R -> H (in DDS and WT1).`	`VAR_007746`
`VARIANT`	`366 366`	`1`	`R -> L (in DDS).`	`VAR_043802`
`VARIANT`	`369 369`	`1`	`Q -> P (in DDS).`	`VAR_043803`
`VARIANT`	`373 373`	`1`	`H -> Q (in DDS and WT1).`	`VAR_007747`
`VARIANT`	`373 373`	`1`	`H -> Y (in DDS).`	`VAR_015056`
`VARIANT`	`377 377`	`1`	`H -> R (in DDS).`	`VAR_015057`
`VARIANT`	`377 377`	`1`	`H -> Y (in IDMS).`	`VAR_007748`
`VARIANT`	`379 379`	`1`	`G -> C (in nephrotic syndrome).`	`VAR_043804`
`VARIANT`	`383 383`	`1`	`F -> L (in IDMS).`	`VAR_007749`
`VARIANT`	`385 385`	`1`	`C -> R (in DDS).`	`VAR_015058`
`VARIANT`	`388 388`	`1`	`C -> F (in DDS).`	`VAR_015059`
`VARIANT`	`388 388`	`1`	`C -> R (in nephrotic syndrome).`	`VAR_043805`
`VARIANT`	`388 388`	`1`	`C -> Y (in DDS).`	`VAR_043806`
`VARIANT`	`392 392`	`1`	`F -> L (in FS).`	`VAR_015060`
`VARIANT`	`394 394`	`1`	`R -> L (in WT1).`	`VAR_043807`
`VARIANT`	`394 394`	`1`	`R -> P (in DDS).`	`VAR_043808`
`VARIANT`	`394 394`	`1`	`R -> Q (in DDS).`	`VAR_015061`
`VARIANT`	`394 394`	`1`	`R -> W (in DDS, WT1 and Meacham syndrome).`	`VAR_007750`
`VARIANT`	`396 396`	`1`	`D -> G (in DDS).`	`VAR_007752`
`VARIANT`	`396 396`	`1`	`D -> N (in DDS and IDMS).`	`VAR_007751`
`VARIANT`	`396 396`	`1`	`D -> Y (in DDS).`	`VAR_043809`
`VARIANT`	`397 397`	`1`	`H -> P (in nephrotic syndrome).`	`VAR_043810`
`VARIANT`	`398 398`	`1`	`L -> P (in DDS).`	`VAR_015062`
`VARIANT`	`401 401`	`1`	`H -> Y (in DDS).`	`VAR_043811`
`VARIANT`	`405 405`	`1`	`H -> R (in DDS).`	`VAR_043812`
`CONFLICT`	`288 288`		`I -> M (in Ref. 7; AAH32861).`
`CONFLICT`	`365 365`		`S -> F (in Ref. 6; AAA36810 and 8; AAB33443).`
`CONFLICT`	`387 387`		`T -> A (in Ref. 3; CAA43819).`
`STRAND`	`386 388`	`3`
`STRAND`	`391 394`	`4`
`HELIX`	`395 402`	`8`
`TURN`	`403 405`	`3`

Sequence information

Length: 449 AA [This is the length of the unprocessed precursor]

Molecular weight: 49188 Da [This is the MW of the unprocessed precursor]

CRC64: 11C7FA3D485096B2 [This is a checksum on the sequence]

        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

P19544 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools