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WTAP WT1 associated protein [ Homo sapiens (human) ]

Gene ID: 9589, updated on 4-Jan-2025

Summary

Official Symbol
WTAPprovided by HGNC
Official Full Name
WT1 associated proteinprovided by HGNC
Primary source
HGNC:HGNC:16846
See related
Ensembl:ENSG00000146457 MIM:605442; AllianceGenome:HGNC:16846
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
Mum2
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 several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 44.8), lymph node (RPKM 20.4) and 25 other tissues See more
Orthologs
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Genomic context

See WTAP in Genome Data Viewer
Location:
6q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159726693..159756319)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160967457..161001943)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160148149..160177351)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene superoxide dismutase 2 Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160147749-160148346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160148347-160148944 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:160154720-160154980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160184458-160184958 Neighboring gene SOD2 overlapping transcript 1 Neighboring gene acetyl-CoA acetyltransferase 2 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene t-complex 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC3925, KIAA0105, DKFZp686F20131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
part_of RNA N6-methyladenosine methyltransferase complex PubMed 
part_of RNA N6-methyladenosine methyltransferase complex PubMed 
located_in cytoplasm  
located_in nuclear membrane PubMed 
located_in nuclear speck PubMed 
located_in nucleoplasm PubMed 
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in nucleus PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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)

  1. NM_001270531.2NP_001257460.1  pre-mRNA-splicing regulator WTAP isoform 1

    See identical proteins and their annotated locations for NP_001257460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AF374416, BC069192, BG702882, BX387163
    Consensus CDS
    CCDS5266.1
    UniProtKB/Swiss-Prot
    Q15007, Q5TCL8, Q5TCL9, Q96T28, Q9BYJ7, Q9H4E2
    UniProtKB/TrEMBL
    A8K489
    Related
    ENSP00000479438.1, ENST00000621533.5
    Conserved Domains (1) summary
    pfam17098
    Location:68222
    Wtap; WTAP/Mum2p family
  2. NM_001270532.2NP_001257461.1  pre-mRNA-splicing regulator WTAP isoform 3

    See identical proteins and their annotated locations for NP_001257461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 3' end sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (3).
    Source sequence(s)
    AA706250, BE906617, CN284477, D14661
    Consensus CDS
    CCDS75542.1
    UniProtKB/TrEMBL
    A0A087X1R4
    Related
    ENSP00000484404.1, ENST00000614346.4
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  3. NM_001270533.2NP_001257462.1  pre-mRNA-splicing regulator WTAP isoform 3

    See identical proteins and their annotated locations for NP_001257462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an alternate 5' and 3' end sequences compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (3).
    Source sequence(s)
    AA706250, BG702882, BQ948913, D14661
    Consensus CDS
    CCDS75542.1
    UniProtKB/TrEMBL
    A0A087X1R4
    Related
    ENSP00000487338.1, ENST00000631126.2
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  4. NM_004906.5NP_004897.2  pre-mRNA-splicing regulator WTAP isoform 1

    See identical proteins and their annotated locations for NP_004897.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AF374416, BC069192, BE906617
    Consensus CDS
    CCDS5266.1
    UniProtKB/Swiss-Prot
    Q15007, Q5TCL8, Q5TCL9, Q96T28, Q9BYJ7, Q9H4E2
    UniProtKB/TrEMBL
    A8K489
    Related
    ENSP00000351141.4, ENST00000358372.8
    Conserved Domains (1) summary
    pfam17098
    Location:68222
    Wtap; WTAP/Mum2p family
  5. NM_152857.3NP_690596.1  pre-mRNA-splicing regulator WTAP isoform 2

    See identical proteins and their annotated locations for NP_690596.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has alternate 5' and 3' end sequences compared to variant 1. Because of the frameshift and immediate translation termination, the resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AA706250, BG702882, D14661
    Consensus CDS
    CCDS5267.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000336911.4, ENST00000337387.4
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family
  6. NM_152858.3NP_690597.1  pre-mRNA-splicing regulator WTAP isoform 2

    See identical proteins and their annotated locations for NP_690597.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' end sequence compared to variant 1, that causes a frameshift and immediate translation termination. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AA706250, BE906617, D14661, DA561768
    Consensus CDS
    CCDS5267.1
    UniProtKB/Swiss-Prot
    Q15007
    Related
    ENSP00000497840.1, ENST00000650096.1
    Conserved Domains (1) summary
    pfam17098
    Location:68150
    Wtap; WTAP/Mum2p family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    159726693..159756319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011514.3XP_016867003.1  pre-mRNA-splicing regulator WTAP isoform X1

    UniProtKB/TrEMBL
    A8K489
  2. XM_017011516.3XP_016867005.1  pre-mRNA-splicing regulator WTAP isoform X4

  3. XM_047419578.1XP_047275534.1  pre-mRNA-splicing regulator WTAP isoform X2

    UniProtKB/Swiss-Prot
    Q15007, Q5TCL8, Q5TCL9, Q96T28, Q9BYJ7, Q9H4E2
    UniProtKB/TrEMBL
    A8K489
  4. XM_017011515.2XP_016867004.1  pre-mRNA-splicing regulator WTAP isoform X3

    UniProtKB/TrEMBL
    A8K489

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160967457..161001943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356858.1XP_054212833.1  pre-mRNA-splicing regulator WTAP isoform X1

    UniProtKB/TrEMBL
    A8K489
  2. XM_054356861.1XP_054212836.1  pre-mRNA-splicing regulator WTAP isoform X4

  3. XM_054356859.1XP_054212834.1  pre-mRNA-splicing regulator WTAP isoform X2

    UniProtKB/Swiss-Prot
    Q15007, Q5TCL8, Q5TCL9, Q96T28, Q9BYJ7, Q9H4E2
    UniProtKB/TrEMBL
    A8K489
  4. XM_054356860.1XP_054212835.1  pre-mRNA-splicing regulator WTAP isoform X3

    UniProtKB/TrEMBL
    A8K489
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