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    WTAP WT1 associated protein [ Homo sapiens (human) ]

    Gene ID: 9589, updated on 3-Dec-2024

    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
    NEW
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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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3925, KIAA0105, DKFZp686F20131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA modification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA N6-methyladenosine methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of RNA N6-methyladenosine methyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    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)

    NEW Try the new Transcript table

    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