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UniProtKB - P19544 (WT1_HUMAN)

Protein

Wilms tumor protein

Gene

WT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. 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 (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921).7 Publications

Miscellaneous

Presence of the KTS motif hinders interactions between DNA and zinc-finger 4.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei424Important for interaction with target DNA1
Sitei430Important for interaction with target DNA1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri323 – 347C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri353 – 377C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri383 – 405C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri414 – 438C2H2-type 4PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, RNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiP19544
SIGNORiP19544

Names & Taxonomyi

Protein namesi
Recommended name:
Wilms tumor protein
Alternative name(s):
WT33
Gene namesi
Name:WT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000184937.12
HGNCiHGNC:12796 WT1
MIMi607102 gene
neXtProtiNX_P19544

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Frasier syndrome (FS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
See also OMIM:136680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015060392F → L in FS. 1 Publication1
Wilms tumor 1 (WT1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionEmbryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.
See also OMIM:194070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007739181P → S in WT1. 2 PublicationsCorresponds to variant dbSNP:rs2234584Ensembl.1
Natural variantiVAR_007740223S → N in WT1. 1 Publication1
Natural variantiVAR_007741253G → A in WT1. 1 Publication1
Natural variantiVAR_043799355C → G in WT1. 1 Publication1
Natural variantiVAR_007745366R → C in WT1, DDS and MEACHS. 4 Publications1
Natural variantiVAR_043807394R → L in WT1. 1 Publication1
Denys-Drash syndrome (DDS)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionTypical 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.
See also OMIM:194080
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007743330C → Y in DDS. 1 Publication1
Natural variantiVAR_015054342M → R in DDS. 1 Publication1
Natural variantiVAR_015055355C → Y in DDS. 2 Publications1
Natural variantiVAR_007744360C → G in DDS. 1
Natural variantiVAR_043800360C → Y in DDS. 1 Publication1
Natural variantiVAR_043802366R → L in DDS. 1 Publication1
Natural variantiVAR_043803369Q → P in DDS. 1 Publication1
Natural variantiVAR_015056373H → Y in DDS. 1 Publication1
Natural variantiVAR_015057377H → R in DDS. 1 Publication1
Natural variantiVAR_015058385C → R in DDS. 3 Publications1
Natural variantiVAR_015059388C → F in DDS. 1 Publication1
Natural variantiVAR_043806388C → Y in DDS. 1 Publication1
Natural variantiVAR_043808394R → P in DDS. 1 Publication1
Natural variantiVAR_007750394R → W in DDS, WT1, MEACHS and NPHS4. 9 Publications1
Natural variantiVAR_007752396D → G in DDS. 1
Natural variantiVAR_043809396D → Y in DDS. 1 Publication1
Natural variantiVAR_015062398L → P in DDS. 2 Publications1
Natural variantiVAR_043811401H → Y in DDS. 1 Publication1
Natural variantiVAR_043812405H → R in DDS. 1 Publication1
Nephrotic syndrome 4 (NPHS4)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015053312R → Q in NPHS4. 1 Publication1
Natural variantiVAR_043801364F → L in NPHS4. 1 Publication1
Natural variantiVAR_007748377H → Y in NPHS4. 1 Publication1
Natural variantiVAR_043804379G → C in NPHS4. 1 Publication1
Natural variantiVAR_007749383F → L in NPHS4. 1 Publication1
Natural variantiVAR_043805388C → R in NPHS4. 2 Publications1
Natural variantiVAR_043810397H → P in NPHS4. 2 Publications1
Meacham syndrome (MEACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:608978
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)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:156240

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi73K → R: Abolishes sumoylation; when associated with R-177. 1 Publication1
Mutagenesisi177K → R: Abolishes sumoylation; when associated with R-77. 1 Publication1
Mutagenesisi343H → A: Reduced RNA binding. 1 Publication1
Mutagenesisi366R → A: Strongly reduced binding of DNA and RNA. 1 Publication1
Mutagenesisi372R → A: Strongly reduced binding of DNA and RNA. 1 Publication1
Mutagenesisi394R → A or S: Strongly reduced binding of DNA and RNA. 1 Publication1
Mutagenesisi434H → A: Reduced RNA binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi7490
GeneReviewsiWT1
MalaCardsiWT1
MIMi136680 phenotype
156240 phenotype
194070 phenotype
194080 phenotype
256370 phenotype
608978 phenotype
OpenTargetsiENSG00000184937
Orphaneti251510 46,XY partial gonadal dysgenesis
220 Denys-Drash syndrome
83469 Desmoplastic small round cell tumor
93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
347 Frasier syndrome
3097 Meacham syndrome
654 Nephroblastoma
93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
893 WAGR syndrome
PharmGKBiPA37395

Polymorphism and mutation databases

BioMutaiWT1
DMDMi139778

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000471311 – 449Wilms tumor proteinAdd BLAST449

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki73Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki177Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki444Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiP19544
PaxDbiP19544
PeptideAtlasiP19544
PRIDEiP19544
ProteomicsDBi53673
53674 [P19544-2]
53675 [P19544-3]
53676 [P19544-4]
53677 [P19544-6]
53678 [P19544-7]
53679 [P19544-8]
53680 [P19544-9]

PTM databases

iPTMnetiP19544
PhosphoSitePlusiP19544

Expressioni

Tissue specificityi

Expressed in the kidney and a subset of hematopoietic cells.

Gene expression databases

BgeeiENSG00000184937 Expressed in 116 organ(s), highest expression level in germinal epithelium of ovary
CleanExiHS_WT1
ExpressionAtlasiP19544 baseline and differential
GenevisibleiP19544 HS

Organism-specific databases

HPAiCAB000327
HPA035717
HPA053848

Interactioni

Subunit structurei

Homodimer. Interacts with WTIP. Interacts with actively translating polysomes. Detected in nuclear ribonucleoprotein (mRNP) particles. Interacts with HNRNPU via the zinc-finger region. Interacts with U2AF2. Interacts with CITED2 (By similarity). Interacts with ZNF224 via the zinc-finger region. Interacts with WTAP and SRY. Interacts with AMER1. Interacts with RBM4.By similarity7 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113327, 50 interactors
IntActiP19544, 24 interactors
MINTiP19544
STRINGi9606.ENSP00000331327

Structurei

Secondary structure

1449
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP19544
SMRiP19544
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP19544

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni367 – 381Important for interaction with target DNAAdd BLAST15
Regioni393 – 401Important for interaction with target DNA9

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi408 – 410KTS motif3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi27 – 83Pro-richAdd BLAST57

Domaini

Binds to DNA motifs with the sequence 5'-GCG(T/G)GGGCG-3' via its C2H2-type zinc fingers. Starting from the N-terminus, the second zinc finger binds to the 3'-GCG motif, the middle zinc finger interacts with the central TGG motif, and the C-terminal zinc finger binds to the 5'-GCG motif. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Has reduced affinity for target DNA where the cytosines have been oxidized to 5-hydroxymethylcytosine, 5-formylcytosine or 5-carboxylcytosine.1 Publication

Sequence similaritiesi

Belongs to the EGR C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri323 – 347C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri353 – 377C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri383 – 405C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri414 – 438C2H2-type 4PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00550000074455
HOVERGENiHBG006960
InParanoidiP19544
KOiK09234
PhylomeDBiP19544

Family and domain databases

InterProiView protein in InterPro
IPR017987 Wilms_tumour
IPR000976 Wilms_tumour_N
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR44601 PTHR44601, 1 hit
PfamiView protein in Pfam
PF02165 WT1, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

This entry has 8 described isoforms and 10 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P19544-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGSDVRDLNA LLPAVPSLGG GGGCALPVSG AAQWAPVLDF APPGASAYGS 
        60         70         80         90        100
LGGPAPPPAP PPPPPPPPHS FIKQEPSWGG AEPHEEQCLS AFTVHFSGQF 
       110        120        130        140        150
TGTAGACRYG PFGPPPPSQA SSGQARMFPN APYLPSCLES QPAIRNQGYS 
       160        170        180        190        200
TVTFDGTPSY GHTPSHHAAQ FPNHSFKHED PMGQQGSLGE QQYSVPPPVY 
       210        220        230        240        250
GCHTPTDSCT GSQALLLRTP YSSDNLYQMT SQLECMTWNQ MNLGATLKGV 
       260        270        280        290        300
AAGSSSSVKW TEGQSNHSTG YESDNHTTPI LCGAQYRIHT HGVFRGIQDV 
       310        320        330        340        350
RRVPGVAPTL VRSASETSEK RPFMCAYPGC NKRYFKLSHL QMHSRKHTGE 
       360        370        380        390        400
KPYQCDFKDC ERRFSRSDQL KRHQRRHTGV KPFQCKTCQR KFSRSDHLKT 
       410        420        430        440 
HTRTHTGKTS EKPFSCRWPS CQKKFARSDE LVRHHNMHQR NMTKLQLAL
Note: Detected in nucleus speckle, may bind mRNA.
Length:449
Mass (Da):49,188
Last modified:August 1, 1991 - v2
Checksum:i11C7FA3D485096B2
GO
Isoform 2 (identifier: P19544-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.
     408-410: Missing.

Show »
Length:429
Mass (Da):47,195
Checksum:iC2F9912E0A4DA3DB
GO
Isoform 3 (identifier: P19544-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-266: Missing.

Show »
Length:432
Mass (Da):47,511
Checksum:i1ACA6CE3563DA9D2
GO
Isoform 4 (identifier: P19544-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-410: Missing.

Show »
Length:446
Mass (Da):48,872
Checksum:i8CE7FC116A41DA04
GO
Isoform 6 (identifier: P19544-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-147: RNQ → MEK
     408-410: Missing.

Show »
Length:302
Mass (Da):34,447
Checksum:i715B121077C0991D
GO
Isoform 7 (identifier: P19544-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM

Note: Produced by alternative initiation of isoform 1. Extended N-terminus.
Show »
Length:522
Mass (Da):56,883
Checksum:iFB30F6E34A60EC04
GO
Isoform 8 (identifier: P19544-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQM
     250-266: Missing.

Note: Produced by alternative initiation of isoform 1. Extended N-terminus.
Show »
Length:505
Mass (Da):55,206
Checksum:iC7CE98CE8B83C250
GO
Isoform 9 (identifier: P19544-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-147: RNQ → MEK
     250-266: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):33,086
Checksum:i9526D02081619728
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNN9J3KNN9_HUMAN
Wilms tumor protein
WT1
517Annotation score:
H0Y7K5H0Y7K5_HUMAN
Wilms tumor protein
WT1
514Annotation score:
A0A0A0MT54A0A0A0MT54_HUMAN
Wilms tumor protein
WT1
497Annotation score:
H0YED9H0YED9_HUMAN
Wilms tumor protein
WT1
178Annotation score:
A0A1W2PQQ0A0A1W2PQQ0_HUMAN
Wilms tumor protein
WT1
497Annotation score:
A0A1W2PPP2A0A1W2PPP2_HUMAN
Wilms tumor protein
WT1
514Annotation score:
A0A1W2PR07A0A1W2PR07_HUMAN
Wilms tumor protein
WT1
517Annotation score:
H0Y3F0H0Y3F0_HUMAN
Wilms tumor protein
WT1
317Annotation score:
E9PKS2E9PKS2_HUMAN
Wilms tumor protein
WT1
131Annotation score:
E9PPW3E9PPW3_HUMAN
Wilms tumor protein
WT1
25Annotation score:

Sequence cautioni

The sequence AAB33443 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence CAA35956 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.Curated
The sequence CAA35956 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAC39220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI95758 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI95759 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti288I → M in AAH32861 (PubMed:15489334).Curated1
Sequence conflicti365S → F in AAA36810 (PubMed:2154335).Curated1
Sequence conflicti365S → F in AAB33443 (PubMed:7862533).Curated1
Sequence conflicti387T → A in CAA43819 (PubMed:1572653).Curated1

RNA editingi

Edited at position 281.1 Publication
Partially edited.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043798131A → T in a patient with hypospadias. 1 Publication1
Natural variantiVAR_007739181P → S in WT1. 2 PublicationsCorresponds to variant dbSNP:rs2234584Ensembl.1
Natural variantiVAR_007740223S → N in WT1. 1 Publication1
Natural variantiVAR_007741253G → A in WT1. 1 Publication1
Natural variantiVAR_007742273S → G Found in a mesothelioma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121907908Ensembl.1
Natural variantiVAR_058021281L → P in RNA edited version. 1
Natural variantiVAR_015053312R → Q in NPHS4. 1 Publication1
Natural variantiVAR_007743330C → Y in DDS. 1 Publication1
Natural variantiVAR_015054342M → R in DDS. 1 Publication1
Natural variantiVAR_043799355C → G in WT1. 1 Publication1
Natural variantiVAR_015055355C → Y in DDS. 2 Publications1
Natural variantiVAR_007744360C → G in DDS. 1
Natural variantiVAR_043800360C → Y in DDS. 1 Publication1
Natural variantiVAR_043801364F → L in NPHS4. 1 Publication1
Natural variantiVAR_007745366R → C in WT1, DDS and MEACHS. 4 Publications1
Natural variantiVAR_007746366R → H in DDS and WT1. 4 Publications1
Natural variantiVAR_043802366R → L in DDS. 1 Publication1
Natural variantiVAR_043803369Q → P in DDS. 1 Publication1
Natural variantiVAR_007747373H → Q in DDS and WT1. 1 Publication1
Natural variantiVAR_015056373H → Y in DDS. 1 Publication1
Natural variantiVAR_015057377H → R in DDS. 1 Publication1
Natural variantiVAR_007748377H → Y in NPHS4. 1 Publication1
Natural variantiVAR_043804379G → C in NPHS4. 1 Publication1
Natural variantiVAR_007749383F → L in NPHS4. 1 Publication1
Natural variantiVAR_015058385C → R in DDS. 3 Publications1
Natural variantiVAR_015059388C → F in DDS. 1 Publication1
Natural variantiVAR_043805388C → R in NPHS4. 2 Publications1
Natural variantiVAR_043806388C → Y in DDS. 1 Publication1
Natural variantiVAR_015060392F → L in FS. 1 Publication1
Natural variantiVAR_043807394R → L in WT1. 1 Publication1
Natural variantiVAR_043808394R → P in DDS. 1 Publication1
Natural variantiVAR_015061394R → Q in DDS and NPHS4. 3 Publications1
Natural variantiVAR_007750394R → W in DDS, WT1, MEACHS and NPHS4. 9 Publications1
Natural variantiVAR_007752396D → G in DDS. 1
Natural variantiVAR_007751396D → N in DDS and NPHS4. 3 Publications1
Natural variantiVAR_043809396D → Y in DDS. 1 Publication1
Natural variantiVAR_043810397H → P in NPHS4. 2 Publications1
Natural variantiVAR_015062398L → P in DDS. 2 Publications1
Natural variantiVAR_043811401H → Y in DDS. 1 Publication1
Natural variantiVAR_043812405H → R in DDS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375821 – 144Missing in isoform 6 and isoform 9. 2 PublicationsAdd BLAST144
Alternative sequenceiVSP_0375831M → MDFLLLQDPASTCVPEPASQ HTLRSGPGCLQQPEQQGVRD PGGIWAKLGAAEASAERLQG RRSRGASGSEPQQM in isoform 7 and isoform 8. 1 Publication1
Alternative sequenceiVSP_037584145 – 147RNQ → MEK in isoform 6 and isoform 9. 2 Publications3
Alternative sequenceiVSP_006866250 – 266Missing in isoform 2, isoform 3, isoform 8 and isoform 9. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_006867408 – 410Missing in isoform 2, isoform 4 and isoform 6. 3 Publications3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51630 mRNA Translation: CAA35956.1 Sequence problems.
M80232
, M80217, M80218, M80219, M80220, M80221, M80228, M80229, M80231 Genomic DNA Translation: AAA61299.1
X61631
, X61632, X61633, X61634, X61635, X61636, X61637, X61638 Genomic DNA Translation: CAA43819.1
AK093168 mRNA Translation: BAG52667.1
AK291736 mRNA Translation: BAF84425.1
AY245105 Genomic DNA Translation: AAO61088.1
AL049692 Genomic DNA Translation: CAC39220.3 Different initiation.
AL049692 Genomic DNA Translation: CAI95758.2 Different initiation.
AL049692 Genomic DNA Translation: CAI95759.2 Different initiation.
AL049692 Genomic DNA Translation: CAI95760.1
CH471064 Genomic DNA Translation: EAW68220.1
CH471064 Genomic DNA Translation: EAW68223.1
CH471064 Genomic DNA Translation: EAW68224.1
BC032861 mRNA Translation: AAH32861.1
M30393 mRNA Translation: AAA36810.1
S75264 mRNA Translation: AAB33443.1 Sequence problems.
S61515 Genomic DNA Translation: AAB20110.1
S61522 Genomic DNA Translation: AAB20111.1
S61524 Genomic DNA Translation: AAB20112.1
S60755 Genomic DNA Translation: AAC60605.1
CCDSiCCDS55750.1 [P19544-9]
CCDS55751.1 [P19544-6]
CCDS7878.2 [P19544-7]
PIRiA38080
RefSeqiNP_000369.3, NM_000378.4
NP_001185480.1, NM_001198551.1 [P19544-6]
NP_001185481.1, NM_001198552.1 [P19544-9]
NP_077742.2, NM_024424.3
NP_077744.3, NM_024426.4 [P19544-7]
UniGeneiHs.591980

Genome annotation databases

EnsembliENST00000379079; ENSP00000368370; ENSG00000184937 [P19544-6]
ENST00000530998; ENSP00000435307; ENSG00000184937 [P19544-9]
GeneIDi7490
KEGGihsa:7490
UCSCiuc001mtl.3 human [P19544-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Chromosomal rearrangement, RNA editing

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51630 mRNA Translation: CAA35956.1 Sequence problems.
M80232
, M80217, M80218, M80219, M80220, M80221, M80228, M80229, M80231 Genomic DNA Translation: AAA61299.1
X61631
, X61632, X61633, X61634, X61635, X61636, X61637, X61638 Genomic DNA Translation: CAA43819.1
AK093168 mRNA Translation: BAG52667.1
AK291736 mRNA Translation: BAF84425.1
AY245105 Genomic DNA Translation: AAO61088.1
AL049692 Genomic DNA Translation: CAC39220.3 Different initiation.
AL049692 Genomic DNA Translation: CAI95758.2 Different initiation.
AL049692 Genomic DNA Translation: CAI95759.2 Different initiation.
AL049692 Genomic DNA Translation: CAI95760.1
CH471064 Genomic DNA Translation: EAW68220.1
CH471064 Genomic DNA Translation: EAW68223.1
CH471064 Genomic DNA Translation: EAW68224.1
BC032861 mRNA Translation: AAH32861.1
M30393 mRNA Translation: AAA36810.1
S75264 mRNA Translation: AAB33443.1 Sequence problems.
S61515 Genomic DNA Translation: AAB20110.1
S61522 Genomic DNA Translation: AAB20111.1
S61524 Genomic DNA Translation: AAB20112.1
S60755 Genomic DNA Translation: AAC60605.1
CCDSiCCDS55750.1 [P19544-9]
CCDS55751.1 [P19544-6]
CCDS7878.2 [P19544-7]
PIRiA38080
RefSeqiNP_000369.3, NM_000378.4
NP_001185480.1, NM_001198551.1 [P19544-6]
NP_001185481.1, NM_001198552.1 [P19544-9]
NP_077742.2, NM_024424.3
NP_077744.3, NM_024426.4 [P19544-7]
UniGeneiHs.591980

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LU6model-A310-449[»]
1XF7NMR-A381-407[»]
2G7Tmodel-A310-449[»]
2G7Vmodel-A310-449[»]
2G7Wmodel-A310-449[»]
2G7Xmodel-A310-449[»]
2JP9NMR-A318-438[»]
2JPANMR-A318-438[»]
2PRTX-ray3.15A318-438[»]
3HPJX-ray2.00C/F126-134[»]
3MYJX-ray1.89C/F126-134[»]
4R2EX-ray1.84A350-440[»]
4R2PX-ray1.79A350-440[»]
4R2QX-ray1.54A350-440[»]
4R2RX-ray2.09A350-440[»]
4R2SX-ray2.49A350-440[»]
4WUUX-ray3.05C126-134[»]
5KL2X-ray1.69A350-440[»]
5KL3X-ray1.45A350-440[»]
5KL4X-ray1.78A/D350-440[»]
5KL5X-ray2.29A350-440[»]
5KL6X-ray1.64A350-440[»]
5KL7X-ray1.58A350-440[»]
6B0OX-ray1.55A/D321-440[»]
6B0PX-ray2.08A/D321-440[»]
6B0QX-ray2.79A/D321-440[»]
6B0RX-ray1.82A/D321-440[»]
6BLWX-ray1.83A319-440[»]
ProteinModelPortaliP19544
SMRiP19544
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113327, 50 interactors
IntActiP19544, 24 interactors
MINTiP19544
STRINGi9606.ENSP00000331327

PTM databases

iPTMnetiP19544
PhosphoSitePlusiP19544

Polymorphism and mutation databases

BioMutaiWT1
DMDMi139778

Proteomic databases

MaxQBiP19544
PaxDbiP19544
PeptideAtlasiP19544
PRIDEiP19544
ProteomicsDBi53673
53674 [P19544-2]
53675 [P19544-3]
53676 [P19544-4]
53677 [P19544-6]
53678 [P19544-7]
53679 [P19544-8]
53680 [P19544-9]

Protocols and materials databases

DNASUi7490
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379079; ENSP00000368370; ENSG00000184937 [P19544-6]
ENST00000530998; ENSP00000435307; ENSG00000184937 [P19544-9]
GeneIDi7490
KEGGihsa:7490
UCSCiuc001mtl.3 human [P19544-1]

Organism-specific databases

CTDi7490
DisGeNETi7490
EuPathDBiHostDB:ENSG00000184937.12
GeneCardsiWT1
GeneReviewsiWT1
H-InvDBiHIX0009531
HGNCiHGNC:12796 WT1
HPAiCAB000327
HPA035717
HPA053848
MalaCardsiWT1
MIMi136680 phenotype
156240 phenotype
194070 phenotype
194080 phenotype
256370 phenotype
607102 gene
608978 phenotype
neXtProtiNX_P19544
OpenTargetsiENSG00000184937
Orphaneti251510 46,XY partial gonadal dysgenesis
220 Denys-Drash syndrome
83469 Desmoplastic small round cell tumor
93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
347 Frasier syndrome
3097 Meacham syndrome
654 Nephroblastoma
93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
893 WAGR syndrome
PharmGKBiPA37395
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00550000074455
HOVERGENiHBG006960
InParanoidiP19544
KOiK09234
PhylomeDBiP19544

Enzyme and pathway databases

SignaLinkiP19544
SIGNORiP19544

Miscellaneous databases

ChiTaRSiWT1 human
EvolutionaryTraceiP19544
GeneWikiiWT1
GenomeRNAii7490
PROiPR:P19544
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184937 Expressed in 116 organ(s), highest expression level in germinal epithelium of ovary
CleanExiHS_WT1
ExpressionAtlasiP19544 baseline and differential
GenevisibleiP19544 HS

Family and domain databases

InterProiView protein in InterPro
IPR017987 Wilms_tumour
IPR000976 Wilms_tumour_N
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR44601 PTHR44601, 1 hit
PfamiView protein in Pfam
PF02165 WT1, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiWT1_HUMAN
AccessioniPrimary (citable) accession number: P19544
Secondary accession number(s): A8K6S1
, B3KSA5, Q15881, Q16256, Q16575, Q4VXV4, Q4VXV5, Q4VXV6, Q8IYZ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: August 1, 1991
Last modified: September 12, 2018
This is version 225 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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