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    Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor [ Mus musculus (house mouse) ]

    Gene ID: 66138, updated on 12-May-2024

    Summary

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    Official Symbol
    Bud23provided by MGI
    Official Full Name
    BUD23, rRNA methyltransferase and ribosome maturation factorprovided by MGI
    Primary source
    MGI:MGI:1913388
    See related
    Ensembl:ENSMUSG00000005378 AllianceGenome:MGI:1913388
    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
    Wbscr22; 1110003N24Rik
    Summary
    Predicted to enable protein heterodimerization activity and rRNA (guanine) methyltransferase activity. Predicted to be involved in positive regulation of rRNA processing and rRNA (guanine-N7)-methylation. Predicted to act upstream of or within chromatin organization; methylation; and rRNA processing. Predicted to be located in nucleoplasm and perinuclear region of cytoplasm. Predicted to be active in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 23.8), ovary adult (RPKM 21.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bud23 in Genome Data Viewer
    Location:
    5 G2; 5 74.97 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135081811..135093813, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135052957..135064959, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 11, opposite strand Neighboring gene abhydrolase domain containing 11 Neighboring gene syntaxin 1A (brain) Neighboring gene predicted gene, 25492 Neighboring gene STARR-positive B cell enhancer ABC_E673 Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene vacuolar protein sorting 37D Neighboring gene STARR-seq mESC enhancer starr_14566 Neighboring gene MLX interacting protein-like

    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. Cardiac mitochondrial function depends on BUD23 mediated ribosome programming. Baxter M, et al. Elife, 2020 Jan 15. PMID 31939735, Free PMC Article
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    3. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva U, et al. Genome Res, 2002 Jan. PMID 11779826, Free PMC Article
    4. Widespread and dynamic translational control of red blood cell development. Alvarez-Dominguez JR, et al. Blood, 2017 Feb 2. PMID 27899360, Free PMC Article
    5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5)  1 citation
    • Gene trapped (1) 

    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

    Clone Names

    • MGC144442, MGC144443

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables rRNA (guanine) methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA (guanine) methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of rRNA processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in rRNA (guanine-N7)-methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA (guanine-N7)-methylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    probable 18S rRNA (guanine-N(7))-methyltransferase
    Names
    Williams Beuren syndrome chromosome region 22
    Williams-Beuren syndrome chromosomal region 22 protein homolog
    bud site selection protein 23 homolog
    rRNA methyltransferase and ribosome maturation factor
    ribosome biogenesis methyltransferase WBSCR22
    NP_001350253.1
    NP_001350254.1
    NP_001350255.1
    NP_001350256.1
    NP_079651.2
    XP_011239206.1
    XP_030110611.1

    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_001363324.1 → NP_001350253.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (2) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AC084109
      UniProtKB/TrEMBL
      Q148T0
      Conserved Domains (3) summary
      COG0500
      Location:2 → 161
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
      pfam12589
      Location:204 → 264
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      pfam13649
      Location:58 → 128
      Methyltransf_25; Methyltransferase domain

    2. NM_001363325.1 → NP_001350254.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 5' end compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC084109, AK002497
      Consensus CDS
      CCDS89995.1
      UniProtKB/TrEMBL
      Q9CV98, Q9DCT4
      Related
      ENSMUSP00000071600.4, ENSMUST00000071677.10
      Conserved Domains (2) summary
      pfam08241
      Location:36 → 106
      Methyltransf_11; Methyltransferase domain
      pfam12589
      Location:182 → 257
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome

    3. NM_001363326.1 → NP_001350255.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternative exons in the 3' coding region compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC084109
      Consensus CDS
      CCDS89994.1
      UniProtKB/TrEMBL
      D3YYK7, Q148T0
      Related
      ENSMUSP00000106836.2, ENSMUST00000111205.8
      Conserved Domains (3) summary
      COG0500
      Location:2 → 230
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
      pfam12589
      Location:210 → 244
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      pfam13649
      Location:58 → 128
      Methyltransf_25; Methyltransferase domain

    4. NM_001363327.1 → NP_001350256.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC084109, BQ042649
      Conserved Domains (1) summary
      pfam12589
      Location:100 → 175
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome

    5. NM_025375.4 → NP_079651.2  probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_079651.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC084109
      Consensus CDS
      CCDS19732.2
      UniProtKB/Swiss-Prot
      Q3U915, Q9CY21
      UniProtKB/TrEMBL
      Q148S9, Q148T0
      Related
      ENSMUSP00000083146.5, ENSMUST00000085984.11
      Conserved Domains (2) summary
      pfam08241
      Location:58 → 128
      Methyltransf_11; Methyltransferase domain
      pfam12589
      Location:204 → 279
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      135081811..135093813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254751.1 → XP_030110611.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A1S6GWI7, Q148T0
      Conserved Domains (3) summary
      COG2227
      Location:37 → 110
      UbiG; 2-polyprenyl-3-methyl-5-hydroxy-6-metoxy-1,4-benzoquinol methylase [Coenzyme transport and metabolism]
      pfam08241
      Location:77 → 147
      Methyltransf_11; Methyltransferase domain
      pfam12589
      Location:223 → 298
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome

    2. XM_011240904.2 → XP_011239206.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform X2

      UniProtKB/TrEMBL
      Q9CV98
      Conserved Domains (2) summary
      pfam12589
      Location:173 → 248
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      pfam13649
      Location:27 → 97
      Methyltransf_25; Methyltransferase domain

    RNA

    1. XR_003955691.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CY21.1 GenPept UniProtKB/Swiss-Prot:Q9CY21

    Gene LinkOut

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