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

Gene ID: 66138, updated on 5-Mar-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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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)
  • Gene trapped (1) 
  • Endonuclease-mediated (5)  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

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

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