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    Wdr48 WD repeat domain 48 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 363164, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Wdr48provided by RGD
    Official Full Name
    WD repeat domain 48provided by RGD
    Primary source
    RGD:1309702
    See related
    EnsemblRapid:ENSRNOG00000016942 AllianceGenome:RGD:1309702
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1309702
    Summary
    Predicted to enable DNA binding activity; deubiquitinase activator activity; and ubiquitin binding activity. Predicted to be involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to act upstream of or within several processes, including positive regulation of epithelial cell proliferation; regulation of protein monoubiquitination; and seminiferous tubule development. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Orthologous to human WDR48 (WD repeat domain 48). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 329.1), Lung (RPKM 137.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Wdr48 in Genome Data Viewer
    Location:
    8q32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (128499721..128532930)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (119622053..119655264)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (128577080..128610287)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 11 Neighboring gene prohibitin 1, pseudogene 2 Neighboring gene atherin-like Neighboring gene golgi reassembly stacking protein 1 Neighboring gene tetratricopeptide repeat domain 21A Neighboring gene cysteine and serine rich nuclear protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DNA requirement in FANCD2 deubiquitination by USP1-UAF1-RAD51AP1 in the Fanconi anemia DNA damage response. Liang F, et al. Nat Commun, 2019 Jun 28. PMID 31253762, Free PMC Article
    2. Inactivation of Uaf1 causes defective homologous recombination and early embryonic lethality in mice. Park E, et al. Mol Cell Biol, 2013 Nov. PMID 24001775, Free PMC Article
    3. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. Cohn MA, et al. J Biol Chem, 2009 Feb 20. PMID 19075014, Free PMC Article
    4. A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. Cohn MA, et al. Mol Cell, 2007 Dec 14. PMID 18082604
    5. WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1). Gangula NR, et al. J Biol Chem, 2013 Nov 29. PMID 24145035, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables deubiquitinase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic organ development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within homeostasis of number of cells ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within male gonad development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within seminiferous tubule development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within single fertilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal system morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skin development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 48

    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_001135895.2 → NP_001129367.1  WD repeat-containing protein 48

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6I3Y0
      Related
      ENSRNOP00000075552.2, ENSRNOT00000082356.3
      Conserved Domains (3) summary
      cd00200
      Location:30 → 286
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:35 → 73
      7WD40; WD40 repeat [structural motif]
      pfam11816
      Location:509 → 672
      DUF3337; Domain of unknown function (DUF3337)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      128499721..128532930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017595770.2 → XP_017451259.1  WD repeat-containing protein 48 isoform X1

      UniProtKB/TrEMBL
      A0A0G2KAW5, D3Z8C7
      Related
      ENSRNOP00000088537.2, ENSRNOT00000114700.2
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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