WT1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

WT1

Aliases

AWT1, GUD, NPHS4, WAGR, WIT-2, WT33

Entrez Gene ID

7490

Gene Name

WT1 transcription factor

Chromosomal Location

11p13

HGNC ID

HGNC:12796

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]

RefSeq DNA

NG_009272.1

RefSeq mRNA

NR_160306.1, NM_000378.6, NM_024424.5, NM_024426.6, NM_001198552.2, NM_001367854.1, NM_024426.3, NM_001198551.1

e!Ensembl

Gene	ENSG00000184937
Transcript	ENST00000379079, ENST00000379077, ENST00000452863, ENST00000530998, ENST00000332351, ENST00000640146, ENST00000651459, ENST00000448076, ENST00000527882, ENST00000639563
Protein	ENSP00000368370, ENSP00000368368, ENSP00000415516, ENSP00000435307, ENSP00000331327, ENSP00000491984, ENSP00000498574, ENSP00000413452, ENSP00000435624, ENSP00000492269

Gene Ontology (GO)

Show/Hide all(47 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	7585606
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IMP	23042785
GO:0001658	Biological process	Branching involved in ureteric bud morphogenesis	IGI	10101119
GO:0001822	Biological process	Kidney development	IGI	11912180
GO:0006355	Biological process	Regulation of transcription, DNA-templated	NAS	7862533, 8393820
GO:0006357	Biological process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007507	Biological process	Heart development	IGI	10101119
GO:0007530	Biological process	Sex determination	IDA	9815658
GO:0008285	Biological process	Negative regulation of cell proliferation	IBA	21873635
GO:0008285	Biological process	Negative regulation of cell proliferation	IDA	9553041, 9765217
GO:0008584	Biological process	Male gonad development	IEP	17848411
GO:0010628	Biological process	Positive regulation of gene expression	IMP	23042785
GO:0030308	Biological process	Negative regulation of cell growth	IDA	9553041, 9765217
GO:0030325	Biological process	Adrenal gland development	IGI	10101119
GO:0032835	Biological process	Glomerulus development	IGI	10101119
GO:0032836	Biological process	Glomerular basement membrane development	IMP	19205749
GO:0043066	Biological process	Negative regulation of apoptotic process	IBA	21873635
GO:0043066	Biological process	Negative regulation of apoptotic process	IGI	10101119
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	1332065, 7585606, 7720589, 8119964, 12802290, 14701728, 19050011
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	8132626, 9178767, 9553041, 9765217, 12802290, 14701728, 16467207, 21390327
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IGI	11912180
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	23042785
GO:0061032	Biological process	Visceral serous pericardium development	IGI	10101119
GO:0071320	Biological process	Cellular response to cAMP	IBA	21873635
GO:0071320	Biological process	Cellular response to cAMP	IEP	15961562
GO:0071371	Biological process	Cellular response to gonadotropin stimulus	IBA	21873635
GO:0071371	Biological process	Cellular response to gonadotropin stimulus	IDA	15961562
GO:0072112	Biological process	Glomerular visceral epithelial cell differentiation	IBA	21873635
GO:0072207	Biological process	Metanephric epithelium development	IEP	7856737
GO:0072284	Biological process	Metanephric S-shaped body morphogenesis	IGI	10101119
GO:1902895	Biological process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	23042785
GO:1905643	Biological process	Positive regulation of DNA methylation	IMP	23042785
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	1662794, 7588596, 8306891, 14701728, 15961562, 16934801
GO:0016607	Cellular component	Nuclear speck	IDA	9553041, 16934801
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	23042785
GO:0003700	Molecular function	DNA-binding transcription factor activity	NAS	7862533, 8393820
GO:0005515	Molecular function	Protein binding	IPI	7720589, 8119964, 9178767, 9553041, 14701728, 16934801, 21390327, 25416956
GO:0008270	Molecular function	Zinc ion binding	IDA	15518539, 25258363
GO:0010385	Molecular function	Double-stranded methylated DNA binding	IDA	25258363
GO:0043565	Molecular function	Sequence-specific DNA binding	IDA	1662794, 7720589, 8119964, 25258363
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	1332065, 7585606, 7588596, 9815658, 16467207, 23042785
GO:0044729	Molecular function	Hemi-methylated DNA-binding	IDA	25258363
GO:0070742	Molecular function	C2H2 zinc finger domain binding	IPI	8119964

Protein Information

Protein Name

Wilms tumor protein, Wilms tumor 1

Function

Refseq Proteins

, NP_000369.4, NP_077742.3, NP_077744.4, NP_001185481.1, NP_001354783.1, NP_077744.3, NP_001185480.1

UniProt

P19544