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    Wac WW domain containing adaptor with coiled-coil [ Mus musculus (house mouse) ]

    Gene ID: 225131, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Wacprovided by MGI
    Official Full Name
    WW domain containing adaptor with coiled-coilprovided by MGI
    Primary source
    MGI:MGI:2387357
    See related
    Ensembl:ENSMUSG00000024283 AllianceGenome:MGI:2387357
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Wwp4; 1110067P07Rik; A230035H12Rik
    Summary
    Predicted to enable RNA polymerase II complex binding activity and chromatin binding activity. Predicted to be involved in several processes, including mitotic G1 DNA damage checkpoint signaling; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of TORC1 signaling. Part of spliceosomal complex. Is expressed in brain. Human ortholog(s) of this gene implicated in DeSanto-Shinawi syndrome. Orthologous to human WAC (WW domain containing adaptor with coiled-coil). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 13.8), CNS E14 (RPKM 12.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Wac in Genome Data Viewer
    Location:
    18 A1; 18 4.62 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (7868614..7929028)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (7868825..7929028)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene high mobility group AT-hook I, related sequence 1 pseudogene Neighboring gene predicted gene, 24292 Neighboring gene STARR-seq mESC enhancer starr_43747 Neighboring gene STARR-positive B cell enhancer ABC_E7572 Neighboring gene predicted gene 9993 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_43748 Neighboring gene STARR-seq mESC enhancer starr_43749 Neighboring gene ribosomal protein S4, X-linked pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development. Nishikawa M, et al. Med Mol Morphol, 2023 Dec. PMID 37402055
    2. The histone H2B ubiquitination regulator Wac is essential for plasma cell differentiation. Li Y, et al. FEBS Lett, 2023 Jul. PMID 37171241
    3. A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes. de la Rosa J, et al. Nat Genet, 2017 May. PMID 28319090, Free PMC Article
    4. WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35. Xu GM, et al. Genomics, 2002 Jan. PMID 11827461
    5. VCIP135 deubiquitinase and its binding protein, WAC, in p97ATPase-mediated membrane fusion. Totsukawa G, et al. EMBO J, 2011 Aug 2. PMID 21811234, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development.
      Title: Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development.
    2. The histone H2B ubiquitination regulator Wac is essential for plasma cell differentiation.
      Title: The histone H2B ubiquitination regulator Wac is essential for plasma cell differentiation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables RNA polymerase II complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in chromatin remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic G1 DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic G1 DNA damage checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of macroautophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WW domain-containing adapter protein with coiled-coil
    Names
    WW domain-containing protein 4

    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_001146298.2 → NP_001139770.1  WW domain-containing adapter protein with coiled-coil isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is missing an internal coding exon compared to transcript variant 1. However, it maintains the same reading frame and encodes an isoform (2) which is 103 aa shorter than isoform 1.
      Source sequence(s)
      AC147624, AK079535, AK142196, AV585521, AW556980, BB737328, BC080851, BF461147, CA561963, CB524834, CJ054063, CO432980, DV042656
      Consensus CDS
      CCDS50218.1
      UniProtKB/TrEMBL
      E9Q020
      Related
      ENSMUSP00000089746.5, ENSMUST00000092112.11
      Conserved Domains (2) summary
      pfam00397
      Location:133 → 160
      WW; WW domain
      cl21494
      Location:320 → 425
      Abhydrolase; alpha/beta hydrolases

    2. NM_001282093.1 → NP_001269022.1  WW domain-containing adapter protein with coiled-coil isoform 3

      See identical proteins and their annotated locations for NP_001269022.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC130718, AC147624, AK079535, AK142196, AV585521, BB709347, BG083129, BM948716, BP766478, CB249484, CN668018, DV042656
      Consensus CDS
      CCDS70869.1
      UniProtKB/TrEMBL
      E9Q5D5
      Related
      ENSMUSP00000074454.5, ENSMUST00000074919.11
      Conserved Domains (2) summary
      PHA03247
      Location:172 → 483
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain

    3. NM_001360956.1 → NP_001347885.1  WW domain-containing adapter protein with coiled-coil isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4z) uses an alternate 5' structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC130718, AC147624
      Consensus CDS
      CCDS70869.1
      UniProtKB/TrEMBL
      E9Q5D5
      Conserved Domains (2) summary
      PHA03247
      Location:172 → 483
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain

    4. NM_153085.4 → NP_694725.3  WW domain-containing adapter protein with coiled-coil isoform 1

      See identical proteins and their annotated locations for NP_694725.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC147624, AK079535, AK142196, AV585521, AW556980, BB737328, BC080851, CB524834, CJ054063, DV042656
      Consensus CDS
      CCDS29046.1
      UniProtKB/Swiss-Prot
      Q3U0K1, Q66JM9, Q69Z92, Q8C2W2, Q8C8Q8, Q924H7
      UniProtKB/TrEMBL
      E9Q5D5
      Related
      ENSMUSP00000132117.2, ENSMUST00000167020.8
      Conserved Domains (2) summary
      pfam00397
      Location:133 → 160
      WW; WW domain
      cl21494
      Location:423 → 528
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      7868614..7929028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030250418.2 → XP_030106278.1  WW domain-containing adapter protein with coiled-coil isoform X8

      UniProtKB/TrEMBL
      E9Q020
      Related
      ENSMUSP00000133185.2, ENSMUST00000171042.8
      Conserved Domains (2) summary
      PHA03247
      Location:137 → 380
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain

    2. XM_030250417.2 → XP_030106277.1  WW domain-containing adapter protein with coiled-coil isoform X4

      UniProtKB/TrEMBL
      E9Q5D5
      Related
      ENSMUSP00000128321.2, ENSMUST00000172018.8
      Conserved Domains (2) summary
      PHA03247
      Location:172 → 480
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain

    3. XM_011246888.3 → XP_011245190.1  WW domain-containing adapter protein with coiled-coil isoform X9

      See identical proteins and their annotated locations for XP_011245190.1

      UniProtKB/TrEMBL
      E9Q5D5
      Conserved Domains (2) summary
      PHA03247
      Location:172 → 483
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain

    4. XM_030250416.2 → XP_030106276.1  WW domain-containing adapter protein with coiled-coil isoform X3

      UniProtKB/TrEMBL
      E9Q5D5
      Conserved Domains (2) summary
      PHA03247
      Location:217 → 525
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:133 → 160
      WW; WW domain

    5. XM_036161088.1 → XP_036016981.1  WW domain-containing adapter protein with coiled-coil isoform X7

      UniProtKB/TrEMBL
      E9Q020
      Conserved Domains (2) summary
      PHA03247
      Location:182 → 422
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:133 → 160
      WW; WW domain

    6. XM_006525803.4 → XP_006525866.1  WW domain-containing adapter protein with coiled-coil isoform X1

      UniProtKB/TrEMBL
      E9Q5D5
      Conserved Domains (2) summary
      PHA03247
      Location:223 → 534
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:139 → 166
      WW; WW domain

    7. XM_006525804.4 → XP_006525867.1  WW domain-containing adapter protein with coiled-coil isoform X2

      UniProtKB/TrEMBL
      E9Q5D5
      Conserved Domains (2) summary
      PHA03247
      Location:223 → 531
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:139 → 166
      WW; WW domain

    8. XM_006525806.4 → XP_006525869.1  WW domain-containing adapter protein with coiled-coil isoform X5

      UniProtKB/TrEMBL
      E9Q020
      Conserved Domains (2) summary
      PHA03247
      Location:188 → 431
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:139 → 166
      WW; WW domain

    9. XM_006525807.4 → XP_006525870.1  WW domain-containing adapter protein with coiled-coil isoform X6

      UniProtKB/TrEMBL
      E9Q020
      Conserved Domains (2) summary
      pfam05109
      Location:203 → 453
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam00397
      Location:139 → 166
      WW; WW domain

    10. XM_017317866.3 → XP_017173355.1  WW domain-containing adapter protein with coiled-coil isoform X8

      UniProtKB/TrEMBL
      E9Q020
      Conserved Domains (2) summary
      PHA03247
      Location:137 → 380
      PHA03247; large tegument protein UL36; Provisional
      pfam00397
      Location:88 → 115
      WW; WW domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q924H7.2 GenPept UniProtKB/Swiss-Prot:Q924H7

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