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    BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor [ Homo sapiens (human) ]

    Gene ID: 114049, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BUD23provided by HGNC
    Official Full Name
    BUD23 rRNA methyltransferase and ribosome maturation factorprovided by HGNC
    Primary source
    HGNC:HGNC:16405
    See related
    Ensembl:ENSG00000071462 MIM:615733; AllianceGenome:HGNC:16405
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WBMT; MERM1; PP3381; HUSSY-3; WBSCR22; HASJ4442
    Summary
    This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in testis (RPKM 63.4), thyroid (RPKM 24.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BUD23 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73683597..73698212)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74884512..74899128)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73097927..73112542)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73082323-73083318 Neighboring gene VPS37D subunit of ESCRT-I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73098635-73099484 Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73099485-73100334 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73104307-73104476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73113705-73114206 Neighboring gene uncharacterized LOC105375350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18260 Neighboring gene syntaxin 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73121477-73122229 Neighboring gene microRNA 4284

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The novel metastasis promoter Merm1/Wbscr22 enhances tumor cell survival in the vasculature by suppressing Zac1/p53-dependent apoptosis. Nakazawa Y, et al. Cancer Res, 2011 Feb 1. PMID 21148752
    2. WBSCR22 confers cell survival and predicts poor prognosis in glioma. Chi Y, et al. Brain Res Bull, 2020 Aug. PMID 32380188
    3. The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. Õunap K, et al. PLoS One, 2013. PMID 24086612, Free PMC Article
    4. The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. Jangani M, et al. J Biol Chem, 2014 Mar 28. PMID 24488492, Free PMC Article
    5. WBSCR22 confers oxaliplatin resistance in human colorectal cancer. Yan D, et al. Sci Rep, 2017 Nov 13. PMID 29133897, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15.
      Title: WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15.
    2. WBSCR22 confers cell survival and predicts poor prognosis in glioma.
      Title: WBSCR22 confers cell survival and predicts poor prognosis in glioma.
    3. Cardiac mitochondrial function depends on BUD23 mediated ribosome programming.
      Title: Cardiac mitochondrial function depends on BUD23 mediated ribosome programming.
    4. Merm1 is capable of maintaining hypomethylated rRNA gene bodies and co-localizes with RNA polymerase I in the nucleolus. Merm1 interacts with Dnmt3a and represses its methyltransferase activity with the requirement of the binding motif for S-adenosyl-L-methionine.
      Title: Metastasis-related methyltransferase 1 (Merm1) represses the methyltransferase activity of Dnmt3a and facilitates RNA polymerase I transcriptional elongation.
    5. Study results demonstrated that WBSCR22 is involved in colorectal cancer (CRC) resistance to oxaliplatin, suggesting WBSCR22 may represent a novel oxaliplatin resistance biomarker as well as a potential target for CRC therapeutics.
      Title: WBSCR22 confers oxaliplatin resistance in human colorectal cancer.
    6. The localization of the TRMT112 protein is determined by WBSCR22, and the WBSCR22-TRMT112 complex is localized in the cell nucleus.
      Title: The Stability of Ribosome Biogenesis Factor WBSCR22 Is Regulated by Interaction with TRMT112 via Ubiquitin-Proteasome Pathway.
    7. DIMT1L and WBSCR22-TRMT112 are required for distinct pre-rRNA processing reactions leading to synthesis of 18S rRNA. Ribosome biogenesis requires the presence of the modification enzyme rather than its RNA-modifying catalytic activity.
      Title: The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.
    8. Knockdown of Merm1/Wbscr22 attenuates sensitivity of H460 non-small cell lung cancer cells to SN-38 and 5-FU without alteration to p53 expression levels.
      Title: Knockdown of Merm1/Wbscr22 attenuates sensitivity of H460 non-small cell lung cancer cells to SN-38 and 5-FU without alteration to p53 expression levels.
    9. The key role of WBSCR22 in 40S subunit biogenesis is independent of its function as an RNA methyltransferase.
      Title: WBSCR22/Merm1 is required for late nuclear pre-ribosomal RNA processing and mediates N7-methylation of G1639 in human 18S rRNA.
    10. WBSCR22 protein level is decreased in lymphoblastoid cell lines.
      Title: The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • MGC2022, MGC5140, FLJ44236, MGC19709

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables methyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables rRNA (guanine) methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA (guanine) methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA (guanine-N7)-methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA (guanine-N7)-methylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    18S rRNA (guanine-N(7))-methyltransferase
    Names
    Williams-Beuren candidate region putative methyltransferase
    Williams-Beuren syndrome chromosomal region 22 protein
    Williams-Beuren syndrome chromosome region 22
    bud site selection protein 23 homolog
    metastasis-related methyltransferase 1
    probable 18S rRNA (guanine-N(7))-methyltransferase
    rRNA methyltransferase and ribosome maturation factor
    ribosome biogenesis methyltransferase WBSCR22
    NP_001189489.1
    NP_059998.2
    XP_006715910.1
    XP_011514080.1
    XP_011514081.1
    XP_054213174.1
    XP_054213175.1
    XP_054213176.1

    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_001202560.3 → NP_001189489.1  18S rRNA (guanine-N(7))-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_001189489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA099700, AA508840, AF412034, BQ927478
      Consensus CDS
      CCDS56490.1
      UniProtKB/TrEMBL
      Q75ME3
      Conserved Domains (1) summary
      PRK10258
      Location:34 → 130
      PRK10258; biotin biosynthesis protein BioC; Provisional

    2. NM_017528.5 → NP_059998.2  18S rRNA (guanine-N(7))-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_059998.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA508840, AF412034
      Consensus CDS
      CCDS5557.1
      UniProtKB/Swiss-Prot
      A8K501, C9K060, O43709, Q96P12, Q9BQ58, Q9HBP9
      UniProtKB/TrEMBL
      Q75ME3
      Related
      ENSP00000265758.3, ENST00000265758.7
      Conserved Domains (2) summary
      pfam12589
      Location:204 → 279
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      pfam13649
      Location:58 → 156
      Methyltransf_25; Methyltransferase domain

    RNA

    1. NR_037776.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA508840, BM794274, BP280183, BQ961799

    2. NR_045512.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA508840, BG108222, BP280183, BQ930813, DB276687

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73683597..73698212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715847.2 → XP_006715910.1  18S rRNA (guanine-N(7))-methyltransferase isoform X1

      UniProtKB/TrEMBL
      Q75ME3
      Conserved Domains (3) summary
      pfam08241
      Location:81 → 184
      Methyltransf_11; Methyltransferase domain
      pfam12589
      Location:227 → 302
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      cl17173
      Location:38 → 117
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    2. XM_011515778.2 → XP_011514080.1  18S rRNA (guanine-N(7))-methyltransferase isoform X2

      Conserved Domains (2) summary
      pfam08241
      Location:81 → 184
      Methyltransf_11; Methyltransferase domain
      cl17173
      Location:38 → 117
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    3. XM_011515779.3 → XP_011514081.1  18S rRNA (guanine-N(7))-methyltransferase isoform X3

      Conserved Domains (1) summary
      pfam08241
      Location:58 → 161
      Methyltransf_11; Methyltransferase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74884512..74899128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357199.1 → XP_054213174.1  18S rRNA (guanine-N(7))-methyltransferase isoform X1

    2. XM_054357200.1 → XP_054213175.1  18S rRNA (guanine-N(7))-methyltransferase isoform X2

    3. XM_054357201.1 → XP_054213176.1  18S rRNA (guanine-N(7))-methyltransferase isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43709.2 GenPept UniProtKB/Swiss-Prot:O43709

    Gene LinkOut

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

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