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    WT1 WT1 transcription factor [ Homo sapiens (human) ]

    Gene ID: 7490, updated on 15-Jul-2024

    Summary

    Official Symbol
    WT1provided by HGNC
    Official Full Name
    WT1 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:12796
    See related
    Ensembl:ENSG00000184937 MIM:607102; AllianceGenome:HGNC:12796
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GUD; AWT1; WAGR; WT-1; WT33; NPHS4; WIT-2
    Summary
    This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
    Expression
    Biased expression in endometrium (RPKM 27.6), testis (RPKM 17.6) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WT1 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (32387775..32435539, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (32523264..32571024, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (32409321..32457085, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4563 Neighboring gene thioesterase superfamily member 7, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 88 Neighboring gene HCNE2 enhancer upstream of PAX6 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:32380174-32380395 Neighboring gene WT1 3' enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3221 Neighboring gene WT1 intron 3 regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:32449464-32450078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:32450079-32450691 Neighboring gene WT1/WT1-AS bi-directional promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:32459559-32460416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:32460417-32461272 Neighboring gene Sharpr-MPRA regulatory region 1868 Neighboring gene MPRA-validated peak1243 silencer Neighboring gene WT1 antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4564 Neighboring gene MPRA-validated peak1244 silencer Neighboring gene MPRA-validated peak1246 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:32605088-32605740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3223 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 Neighboring gene eukaryotic translation initiation factor 3 subunit M Neighboring gene coiled-coil domain containing 73 Neighboring gene 60S ribosomal protein L34-like Neighboring gene ribosomal protein L34 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in WT1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    11p partial monosomy syndrome
    MedGen: C0206115 OMIM: 194072 GeneReviews: PAX6-Related Aniridia
    Compare labs
    Aniridia 1
    MedGen: C0344542 OMIM: 106210 GeneReviews: PAX6-Related Aniridia
    Compare labs
    Drash syndrome
    MedGen: C0950121 OMIM: 194080 GeneReviews: WT1 Disorder
    Compare labs
    Frasier syndrome
    MedGen: C0950122 OMIM: 136680 GeneReviews: WT1 Disorder
    Compare labs
    Meacham syndrome
    MedGen: C1837026 OMIM: 608978 GeneReviews: WT1 Disorder
    Compare labs
    Mesothelioma, malignant
    MedGen: C0345967 OMIM: 156240 GeneReviews: Not available
    Compare labs
    Nephrotic syndrome, type 4
    MedGen: C3151568 OMIM: 256370 GeneReviews: WT1 Disorder
    Compare labs
    Wilms tumor 1 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-01-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common variants at 11p13 are associated with susceptibility to tuberculosis.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies Wilms tumor 1 (WT1) is important for HIV-1 replication. shRNA against WT1 exhibits a decrease on LTR-driven beta-gal transcription compared to control PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Podocyte-specific expression of HIV-1 Nef induces loss of synaptopodin and WT1, and expression of Ki-67 in podocytes, which is essential for the dedifferentiation and proliferation of podocytes in HIV-associated nephropathy PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded methylated DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hemi-methylated DNA-binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adrenal cortex formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adrenal gland development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in branching involved in ureteric bud morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in camera-type eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to gonadotropin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in diaphragm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in germ cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular basement membrane development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glomerulus development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in kidney development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in male genitalia development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mesenchymal to epithelial transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric S-shaped body morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in metanephric epithelium development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in metanephric mesenchyme development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of female gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_positive_effect negative regulation of gene expression via chromosomal CpG island methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of metanephric glomerular mesangial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in podocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of heart growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of metanephric ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in posterior mesonephric tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of animal organ formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sex determination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thorax and anterior abdomen determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visceral serous pericardium development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Wilms tumor protein
    Names
    Wilms tumor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009272.1 RefSeqGene

      Range
      5001..52767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_525

    mRNA and Protein(s)

    1. NM_000378.6NP_000369.4  Wilms tumor protein isoform A

      Status: REVIEWED

      Source sequence(s)
      AB971668, AK093168, BC046461, M30393, X51630
      Consensus CDS
      CCDS44561.2
      UniProtKB/TrEMBL
      A0A1W2PQQ0, J3KNN9
      Related
      ENSP00000331327.5, ENST00000332351.9
      Conserved Domains (3) summary
      COG5048
      Location:437495
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:384403
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:74377
      WT1; Wilm's tumor protein
    2. NM_001198551.2NP_001185480.1  Wilms tumor protein isoform E

      See identical proteins and their annotated locations for NP_001185480.1

      Status: REVIEWED

      Source sequence(s)
      AL049692
      Consensus CDS
      CCDS55751.1
      UniProtKB/TrEMBL
      A0A1W2PR07
      Related
      ENSP00000368370.2, ENST00000379079.8
      Conserved Domains (3) summary
      COG5048
      Location:237295
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:184203
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:3177
      WT1; Wilm's tumor protein
    3. NM_001198552.2NP_001185481.1  Wilms tumor protein isoform F

      See identical proteins and their annotated locations for NP_001185481.1

      Status: REVIEWED

      Source sequence(s)
      AK093168, BC046461, BG718348, M30393
      Consensus CDS
      CCDS55750.1
      UniProtKB/TrEMBL
      A0A1W2PR07
      Related
      ENSP00000435307.1, ENST00000530998.5
      Conserved Domains (3) summary
      COG5048
      Location:152280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:167186
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:3160
      WT1; Wilm's tumor protein
    4. NM_001367854.1NP_001354783.1  Wilms tumor protein isoform G

      Status: REVIEWED

      Source sequence(s)
      AL049692
      Related
      ENST00000652724.1
      Conserved Domains (2) summary
      COG5048
      Location:5118
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:524
      ZF_C2H2; C2H2 Zn finger [structural motif]
    5. NM_001407044.1NP_001393973.1  Wilms tumor protein isoform H

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A0A0MT54
    6. NM_001407045.1NP_001393974.1  Wilms tumor protein isoform I

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
      Related
      ENSP00000492269.3, ENST00000639563.3
    7. NM_001407046.1NP_001393975.1  Wilms tumor protein isoform J

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A0A0MT54
    8. NM_001407047.1NP_001393976.1  Wilms tumor protein isoform K

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A0A0MT54
    9. NM_001407048.1NP_001393977.1  Wilms tumor protein isoform L

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
    10. NM_001407049.1NP_001393978.1  Wilms tumor protein isoform M

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
    11. NM_001407050.1NP_001393979.1  Wilms tumor protein isoform N

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
    12. NM_001407051.1NP_001393980.1  Wilms tumor protein isoform O

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PR07
    13. NM_001429031.1NP_001415960.1  Wilms tumor protein isoform P

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/Swiss-Prot
      A8K6S1, B3KSA5, P19544, Q15881, Q16256, Q16575, Q4VXV4, Q4VXV5, Q4VXV6, Q8IYZ5
      UniProtKB/TrEMBL
      A0A0A0MT54, A0A481V744
    14. NM_001429032.1NP_001415961.1  Wilms tumor protein isoform Q

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A0A0MT54
    15. NM_001429033.1NP_001415962.1  Wilms tumor protein isoform R

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
    16. NM_001429034.1NP_001415963.1  Wilms tumor protein isoform S

      Status: REVIEWED

      Source sequence(s)
      AL049692
      UniProtKB/TrEMBL
      A0A1W2PQQ0
    17. NM_024424.5NP_077742.3  Wilms tumor protein isoform B

      Status: REVIEWED

      Source sequence(s)
      AB971668, AK093168, AK291736, BC046461, M30393, X51630
      Consensus CDS
      CCDS44562.2
      UniProtKB/TrEMBL
      A0A0A0MT54, H0Y7K5
      Related
      ENSP00000413452.5, ENST00000448076.9
      Conserved Domains (3) summary
      COG5048
      Location:454512
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401420
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:74394
      WT1; Wilm's tumor protein
    18. NM_024426.6NP_077744.4  Wilms tumor protein isoform D

      Status: REVIEWED

      Source sequence(s)
      AB971668, AK093168, BC046461, M30393, X51630
      Consensus CDS
      CCDS7878.3
      UniProtKB/TrEMBL
      A0A0A0MT54
      Related
      ENSP00000415516.5, ENST00000452863.10
      Conserved Domains (3) summary
      COG5048
      Location:386514
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401420
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:74394
      WT1; Wilm's tumor protein

    RNA

    1. NR_160306.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB971668, AL049692
      Related
      ENST00000379077.9
    2. NR_176266.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049692

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      32387775..32435539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      32523264..32571024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)