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    Wdr54 WD repeat domain 54 [ Mus musculus (house mouse) ]

    Gene ID: 75659, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Wdr54provided by MGI
    Official Full Name
    WD repeat domain 54provided by MGI
    Primary source
    MGI:MGI:1922909
    See related
    Ensembl:ENSMUSG00000030032 AllianceGenome:MGI:1922909
    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
    1700030E05Rik
    Summary
    Predicted to enable protein homodimerization activity. Predicted to be involved in negative regulation of receptor internalization; regulation of MAPK cascade; and regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in vesicle. Orthologous to human WDR54 (WD repeat domain 54). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 31.5), whole brain E14.5 (RPKM 5.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C3; 6 35.94 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (83129691..83133383, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (83152710..83156524, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9669 Neighboring gene INO80 complex subunit B Neighboring gene rhotekin Neighboring gene RIKEN cDNA 1700003E16 gene Neighboring gene STARR-positive B cell enhancer ABC_E6447 Neighboring gene STARR-seq mESC enhancer starr_16458 Neighboring gene predicted gene 15624 Neighboring gene dynactin 1

    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. High-resolution genetic, physical, and transcript map of the mnd2 region of mouse chromosome 6. Weber JS, et al. Genomics, 1998 Nov 15. PMID 9806835
    2. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    3. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102039

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of epidermal growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 54

    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_001362119.1 → NP_001349048.1  WD repeat-containing protein 54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      BC083332, BY232896
      Consensus CDS
      CCDS20275.1
      UniProtKB/Swiss-Prot
      Q3U4A4, Q9R0D8
      Related
      ENSMUSP00000122873.3, ENSMUST00000125894.9
      Conserved Domains (2) summary
      COG2319
      Location:131 → 324
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:72 → 119
      7WD40; WD40 repeat [structural motif]

    2. NM_001362120.1 → NP_001349049.1  WD repeat-containing protein 54 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC104324, AC160400
      Conserved Domains (2) summary
      COG2319
      Location:64 → 257
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:100 → 142
      7WD40; WD40 repeat [structural motif]

    3. NM_023790.2 → NP_076279.1  WD repeat-containing protein 54 isoform a

      See identical proteins and their annotated locations for NP_076279.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK006536, BY232896, BY540708
      Consensus CDS
      CCDS20275.1
      UniProtKB/Swiss-Prot
      Q3U4A4, Q9R0D8
      Related
      ENSMUSP00000116608.2, ENSMUST00000153148.8
      Conserved Domains (2) summary
      COG2319
      Location:131 → 324
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:72 → 119
      7WD40; WD40 repeat [structural motif]

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      83129691..83133383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255653.2 → XP_030111513.1  WD repeat-containing protein 54 isoform X1

      Conserved Domains (2) summary
      COG2319
      Location:164 → 357
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:200 → 242
      7WD40; WD40 repeat [structural motif]

    2. XM_030255655.2 → XP_030111515.1  WD repeat-containing protein 54 isoform X3

      Conserved Domains (2) summary
      COG2319
      Location:40 → 185
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:76 → 108
      7WD40; WD40 repeat [structural motif]

    3. XM_036152387.1 → XP_036008280.1  WD repeat-containing protein 54 isoform X2

      Conserved Domains (2) summary
      COG2319
      Location:64 → 257
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:100 → 142
      7WD40; WD40 repeat [structural motif]

    4. XM_030255654.2 → XP_030111514.1  WD repeat-containing protein 54 isoform X1

      Conserved Domains (2) summary
      COG2319
      Location:164 → 357
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:200 → 242
      7WD40; WD40 repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R0D8.1 GenPept UniProtKB/Swiss-Prot:Q9R0D8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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