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WT1 Wilms tumor 1 [ Homo sapiens (human) ]

Gene ID: 7490, updated on 21-Jul-2014
Official Symbol
WT1provided by HGNC
Official Full Name
Wilms tumor 1provided by HGNC
Primary source
HGNC:12796
See related
Ensembl:ENSG00000184937; HPRD:06163; 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 Wilm's tumors. 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 site 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, Oct 2010]
Location:
11p13
Exon count :
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC101928385 Neighboring gene reticulocalbin 1, EF-hand calcium binding domain Neighboring gene WT1 antisense RNA Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 Neighboring gene eukaryotic translation initiation factor 3, subunit M

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
11p partial monosomy syndrome
MedGen: C0206115 OMIM: 194072 GeneReviews: Aniridia
Compare labs
Congenital aniridia
MedGen: C0003076 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
MedGen: C0027708 OMIM: 194070 GeneReviews: Aniridia, Wilms Tumor Overview
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 
apoptotic DNA fragmentation IDA
Inferred from Direct Assay
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 
negative regulation of translation 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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 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, DNA-templated 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
Wilms tumor protein
Names
Wilms tumor protein
amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1

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 

    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 proteins identical to 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
    Q6PI38
    Related
    ENSP00000415516, OTTHUMP00000037553, ENST00000452863, OTTHUMT00000095433
    Conserved Domains (3) summary
    COG5048
    Location:180489
    Blast Score: 136
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam02165
    Location:69372
    Blast Score: 1239
    WT1; Wilm's tumor protein
    pfam13465
    Location:421445
    Blast Score: 101
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001198551.1NP_001185480.1  Wilms tumor protein isoform E

    See proteins identical to 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, OTTHUMP00000037554, ENST00000379079, OTTHUMT00000095434
    Conserved Domains (3) summary
    COG5048
    Location:237295
    Blast Score: 122
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam02165
    Location:3177
    Blast Score: 752
    WT1; Wilm's tumor protein
    pfam13465
    Location:226250
    Blast Score: 91
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001198552.1NP_001185481.1  Wilms tumor protein isoform F

    See proteins identical to 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, OTTHUMP00000037555, ENST00000530998, OTTHUMT00000095435
    Conserved Domains (3) summary
    COG5048
    Location:152280
    Blast Score: 117
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam02165
    Location:3160
    Blast Score: 768
    WT1; Wilm's tumor protein
    pfam13465
    Location:209233
    Blast Score: 89
    zf-H2C2_2; Zinc-finger double domain
  4. NM_024424.3NP_077742.2  Wilms tumor protein isoform B

    See proteins identical to 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
    Q6PI38
    Conserved Domains (3) summary
    COG5048
    Location:449507
    Blast Score: 134
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam02165
    Location:69389
    Blast Score: 1224
    WT1; Wilm's tumor protein
    pfam13465
    Location:438462
    Blast Score: 102
    zf-H2C2_2; Zinc-finger double domain
  5. NM_024426.4NP_077744.3  Wilms tumor protein isoform D

    See proteins identical to 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
    Q6PI38
    Related
    ENSP00000331327, OTTHUMP00000037556, ENST00000332351, OTTHUMT00000095436
    Conserved Domains (3) summary
    COG5048
    Location:381509
    Blast Score: 132
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam02165
    Location:69389
    Blast Score: 1224
    WT1; Wilm's tumor protein
    pfam13465
    Location:438462
    Blast Score: 101
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    32104249..32152010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    32409251..32457017
    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.

Supplemental Content

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