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    WT1 Wilms tumor 1 [ Homo sapiens (human) ]

    Gene ID: 7490, updated on 6-Aug-2017
    Official Symbol
    WT1provided by HGNC
    Official Full Name
    Wilms tumor 1provided by HGNC
    Primary source
    HGNC:HGNC:12796
    See related
    Ensembl:ENSG00000184937 MIM:607102; Vega:OTTHUMG00000039556
    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; WT33; NPHS4; WIT-2; EWS-WT1
    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]
    Orthologs
    Location:
    11p13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (32387775..32435535, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (32408789..32457104, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984322 Neighboring gene thioesterase superfamily member 7, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 88 Neighboring gene protein GVQW2-like Neighboring gene WT1 antisense RNA Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 Neighboring gene eukaryotic translation initiation factor 3 subunit M

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Aniridia 1
    MedGen: C0344542 OMIM: 106210 GeneReviews: Aniridia
    Compare labs
    Diffuse mesangial sclerosis
    MedGen: C0268747 OMIM: 256370 GeneReviews: Not available
    Compare labs
    Drash syndrome
    MedGen: C0950121 OMIM: 194080 GeneReviews: Not available
    Compare labs
    Frasier syndrome
    MedGen: C0950122 OMIM: 136680 GeneReviews: Not available
    Compare labs
    Meacham syndrome
    MedGen: C1837026 OMIM: 608978 GeneReviews: Not available
    Compare labs
    Mesothelioma, malignant
    MedGen: C0345967 OMIM: 156240 GeneReviews: Not available
    Compare labs
    Wilms tumor 1 Compare labs
    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
    MedGen: C0206115 OMIM: 194072 GeneReviews: Aniridia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    C2H2 zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    double-stranded methylated DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemi-methylated DNA-binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adrenal cortex formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adrenal gland development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    branching involved in ureteric bud morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    camera-type eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to gonadotropin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    diaphragm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    germ cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerular basement membrane development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glomerular visceral epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glomerular visceral epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerulus development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    kidney development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    male genitalia development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    mesenchymal to epithelial transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metanephric S-shaped body morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    metanephric epithelium development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    metanephric mesenchyme development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of female gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of metanephric glomerular mesangial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of heart growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of metanephric ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    posterior mesonephric tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of animal organ formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    sex determination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thorax and anterior abdomen determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visceral serous pericardium development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    Wilms tumor protein
    Names
    Wilms tumor protein isoform Ex4a(+)

    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_000378.4NP_000369.3  Wilms tumor protein isoform A

      See identical proteins and their annotated locations for NP_000369.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) lacks an alternate in-frame exon and uses an alternate, in-frame splice site in the 3' coding region, compared to variant D. This results in a shorter protein (isoform A), compared to isoform D. It initiates translation from a non-AUG (CUG) site, and also from a downstream, in-frame AUG.
      Source sequence(s)
      AK093168, AK291736, BC046461, M30393, X51630
      Consensus CDS
      CCDS44561.1
      UniProtKB/Swiss-Prot
      P19544
      UniProtKB/TrEMBL
      A0A1W2PQQ0, Q6PI38
      Related
      ENSP00000415516.3, OTTHUMP00000037553, ENST00000452863.7, OTTHUMT00000095433
      Conserved Domains (4) summary
      COG5048
      Location:180489
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:379398
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:69372
      WT1; Wilm's tumour protein
      pfam13465
      Location:421445
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001198551.1NP_001185480.1  Wilms tumor protein isoform E

      See identical proteins and their annotated locations for NP_001185480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (E) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant D. This variant also uses an alternate, in-frame splice site in the 3' coding region, compared to variant D. The encoded isoform (E) has a distinct N-terminus and is shorter than isoform D.
      Source sequence(s)
      AK093168, BC032861, BC046461, BG718348, M30393
      Consensus CDS
      CCDS55751.1
      UniProtKB/Swiss-Prot
      P19544
      UniProtKB/TrEMBL
      Q6PI38
      Related
      ENSP00000368370.2, OTTHUMP00000037554, ENST00000379079.6, OTTHUMT00000095434
      Conserved Domains (4) 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 tumour protein
      pfam13465
      Location:226250
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001198552.1NP_001185481.1  Wilms tumor protein isoform F

      See identical proteins and their annotated locations for NP_001185481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (F) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant D. This variant also lacks an alternate, in-frame exon compared to variant D. The encoded isoform (F) has a distinct N-terminus and is shorter than isoform D.
      Source sequence(s)
      AK093168, BC046461, BG718348, M30393
      Consensus CDS
      CCDS55750.1
      UniProtKB/Swiss-Prot
      P19544
      UniProtKB/TrEMBL
      Q6PI38
      Related
      ENSP00000435307.1, OTTHUMP00000037555, ENST00000530998.5, OTTHUMT00000095435
      Conserved Domains (4) 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 tumour protein
      pfam13465
      Location:209233
      zf-H2C2_2; Zinc-finger double domain
    4. NM_024424.3NP_077742.2  Wilms tumor protein isoform B

      See identical proteins and their annotated locations for NP_077742.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) uses an alternate, in-frame splice site in the 3' coding region, compared to variant D. This results in a shorter protein (isoform B), compared to isoform D. It initiates translation from a non-AUG (CUG) site, and also from a downstream, in-frame AUG.
      Source sequence(s)
      AK093168, AK291736, BC046461, M30393, X51630
      Consensus CDS
      CCDS44562.1
      UniProtKB/Swiss-Prot
      P19544
      UniProtKB/TrEMBL
      A0A1W2PPP2, Q6PI38
      Related
      ENSP00000413452.3, OTTHUMP00000238018, ENST00000448076.7, OTTHUMT00000398321
      Conserved Domains (4) summary
      COG5048
      Location:449507
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:396415
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:69389
      WT1; Wilm's tumour protein
      pfam13465
      Location:438462
      zf-H2C2_2; Zinc-finger double domain
    5. NM_024426.4NP_077744.3  Wilms tumor protein isoform D

      See identical proteins and their annotated locations for NP_077744.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) represents the longest transcript and encodes the longest isoform (D). It initiates translation from a non-AUG (CUG) site, and also from a downstream, in-frame AUG.
      Source sequence(s)
      AK093168, AK291736, BC046461, M30393, X51630
      Consensus CDS
      CCDS7878.2
      UniProtKB/Swiss-Prot
      P19544
      UniProtKB/TrEMBL
      A0A1W2PR07, Q6PI38
      Related
      ENSP00000331327.3, OTTHUMP00000037556, ENST00000332351.7, OTTHUMT00000095436
      Conserved Domains (4) summary
      COG5048
      Location:381509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:396415
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02165
      Location:69389
      WT1; Wilm's tumour protein
      pfam13465
      Location:438462
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      32387775..32435535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      32409251..32457017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024425.2: Suppressed sequence

      Description
      NM_024425.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center