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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

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