Homo sapiens Protein: WT1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-370530.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | WT1 | ||||||||||||||||||||||
Protein Name | Wilms tumor 1 | ||||||||||||||||||||||
Synonyms | AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000415516 | ||||||||||||||||||||||
InnateDB Gene | IDBG-37982 (WT1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000269PubMed:19123921, ECO:0000269PubMed:19416806}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. Nucleus, nucleolus. Cytoplasm {ECO:0000250}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000250}.Isoform 1: Nucleus speckle.Isoform 4: Nucleus, nucleoplasm. | ||||||||||||||||||||||
Disease Associations | 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. {ECO:0000269PubMed:10571943}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:1317572, ECO:0000269PubMed:15150775, ECO:0000269PubMed:9108089, ECO:0000269PubMed:9529364}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:10738002, ECO:0000269PubMed:10799199, ECO:0000269PubMed:11182928, ECO:0000269PubMed:11519891, ECO:0000269PubMed:1302008, ECO:0000269PubMed:1338906, ECO:0000269PubMed:15349765, ECO:0000269PubMed:1655284, ECO:0000269PubMed:8111391, ECO:0000269PubMed:8112732, ECO:0000269PubMed:8295405, ECO:0000269PubMed:8388765, ECO:0000269PubMed:8411073, ECO:0000269PubMed:8741319, ECO:0000269PubMed:8956030, ECO:0000269PubMed:9475094, ECO:0000269PubMed:9529364}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:11182928, ECO:0000269PubMed:15253707, ECO:0000269PubMed:9529364, ECO:0000269PubMed:9607189}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:17853480}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=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. {ECO:0000269PubMed:8401592}. Note=The disease may be caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in the kidney and a subset of hematopoietic cells. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000976
Wilm\'s tumour protein, N-terminal IPR007087 Zinc finger, C2H2 IPR015880 Zinc finger, C2H2-like IPR017987 Wilm\'s tumour protein |
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PFAM |
PF02165
PF00096 |
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PRINTS |
PR00049
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PIRSF | |||||||||||||||||||||||
SMART |
SM00355
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
PhosphoSite | PhosphoSite-P19544 | ||||||||||||||||||||||
TrEMBL | H0Y3F0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 7490 | ||||||||||||||||||||||
UniGene | Hs.606557 | ||||||||||||||||||||||
RefSeq | NP_000369 | ||||||||||||||||||||||
HUGO | HGNC:12796 | ||||||||||||||||||||||
OMIM | 607102 | ||||||||||||||||||||||
CCDS | CCDS44561 | ||||||||||||||||||||||
HPRD | 06163 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL049692 D13624 EF012820 | ||||||||||||||||||||||
GenPept | ABK15552 BAF85820 | ||||||||||||||||||||||