WTAP Wilms tumor 1 associated protein [Homo sapiens] - Gene

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Summary

Official Symbol: WTAPprovided by HGNC
Official Full Name: Wilms tumor 1 associated proteinprovided by HGNC
Primary source: HGNC:16846
Locus tag: RP1-56L9.4
See related: Ensembl:ENSG00000146457; HPRD:09259; MIM:605442; Vega:OTTHUMG00000015933
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: MGC3925; KIAA0105; DKFZp686F20131
Summary: The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in three transcript variants, two of which encode the same isoform. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6q25-q27

Sequence :: Chromosome: 6; NC_000006.11 (160148152..160177351)

See WTAP in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

WTAP level in poodocytes is a valuable alternative technique in the study of podocyte injury in diabetic nephropathy.
Title: Evaluation of podocyte lesion in patients with diabetic nephropathy: Wilms' tumor-1 protein used as a podocyte marker.
Nuclear degradation of Wilms tumor 1-associating protein and survivin splice variant switching underlie IGF-1-mediated survival
Title: Nuclear degradation of Wilms tumor 1-associating protein and survivin splice variant switching underlie IGF-1-mediated survival.
WTAP and ATF3 Transcription Factor are activated in Wilms' tumor and accelerate tumorigenesis.
Title: Wilms' tumor 1 and signal transducers and activators of transcription 3 synergistically promote cell proliferation: a possible mechanism in sporadic Wilms' tumor.
WTAP is a novel regulator of the cell cycle and cell survival and implicate a WTAP-WT1 axis as a novel pathway for controlling vascular smooth muscle cell phenotype.
Title: Wilms' tumor 1-associating protein regulates the proliferation of vascular smooth muscle cells.
WTAP as an essential factor for the stabilization of cyclin A2 mRNA, thereby regulating G2/M cell-cycle transition
Title: Wilms' tumor 1-associating protein regulates G2/M transition through stabilization of cyclin A2 mRNA.
WTAP protein involved in the morphogenesis of the genitourinaty tract and in the etiology of isolated hypospadias.
Title: Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q15007	Q99829	CPNE1	HPRD	PubMed
Q15007	P43364	MAGEA11	HPRD	PubMed
Q15007	P19544	WT1	HPRD	PubMed
BioGRID:114957	BioGRID:107487	CENPA	BioGRID	PubMed	Co-purification
BioGRID:114957	BioGRID:110284	MAGEA11	BioGRID	PubMed	Two-hybrid
BioGRID:114957	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114957	BioGRID:113327	WT1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114957	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
RNA splicing	IEA Inferred from Electronic Annotation more info
cell cycle	IEA Inferred from Electronic Annotation more info
mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: pre-mRNA-splicing regulator WTAP

Names: pre-mRNA-splicing regulator WTAP; hFL(2)D; PNAS-132; WT1-associated protein; female-lethal(2)D homolog; wilms tumor 1-associating protein; Wilms' tumour 1-associating protein; putative pre-mRNA splicing regulator female-lethal(2D)

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_004906.3 → NP_004897.2 pre-mRNA-splicing regulator WTAP isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AF374416

Consensus CDS

CCDS5266.1

UniProtKB/Swiss-Prot

Q15007

Related

ENSP00000351141, OTTHUMP00000017522, ENST00000358372, OTTHUMT00000042905

Conserved Domains (1) summary

PRK11281
Location:76 – 231
Blast Score: 92

PRK11281; hypothetical protein; Provisional
NM_152857.1 → NP_690596.1 pre-mRNA-splicing regulator WTAP isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has alternate 5' and 3' end sequences, as compared to variant 1. Because of the frameshift and immediate translation termination, the resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

BQ778248, D14661

Consensus CDS

CCDS5267.1

UniProtKB/Swiss-Prot

Q15007

Related

ENSP00000336911, OTTHUMP00000017523, ENST00000337387, OTTHUMT00000042906
NM_152858.1 → NP_690597.1 pre-mRNA-splicing regulator WTAP isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) has alternate 3' end sequence, compared to variant 1, that causes a frameshift and immediate translation termination. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AF374416, BC004432, BQ778248, D14661

Consensus CDS

CCDS5267.1

UniProtKB/Swiss-Prot

Q15007

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

160148152..160177351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

157617461..157646781

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL135914.25	CAI21848.1
		CAI21849.1
genomic	CH471051.2	EAW47622.1
		EAW47623.1
		EAW47624.1
		EAW47625.1
		EAW47626.1
		EAW47627.1
		EAW47628.1
mRNA	AF277190.1	AAK07548.1
mRNA	AF374416.1	AAK54764.1
mRNA	AJ276706.1	CAC10188.1
mRNA	AK127822.1	BAG54579.1
mRNA	AK131393.1	None
mRNA	AK290854.1	BAF83543.1
mRNA	AL583911.1	CAC29495.1
mRNA	BC000383.2	AAH00383.1
mRNA	BC004432.1	AAH04432.1
mRNA	BC028180.1	None
mRNA	BC069192.1	AAH69192.1
mRNA	BQ778248.1	None
mRNA	CR627456.1	CAH10537.1
mRNA	D14661.1	BAA03495.1
other-genetic	HQ447554.1	ADQ32040.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q15007.2	GenPept	UniProtKB/Swiss-Prot:Q15007
Q6AHX7	GenPept	UniProtKB/TrEMBL:Q6AHX7
Q9BZS4	GenPept	UniProtKB/TrEMBL:Q9BZS4