U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 114049, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001202560.3NP_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:34130
      PRK10258; biotin biosynthesis protein BioC; Provisional
    2. NM_017528.5NP_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:204279
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      pfam13649
      Location:58156
      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_006715847.2XP_006715910.1  18S rRNA (guanine-N(7))-methyltransferase isoform X1

      UniProtKB/TrEMBL
      Q75ME3
      Conserved Domains (3) summary
      pfam08241
      Location:81184
      Methyltransf_11; Methyltransferase domain
      pfam12589
      Location:227302
      WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
      cl17173
      Location:38117
      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_011515778.2XP_011514080.1  18S rRNA (guanine-N(7))-methyltransferase isoform X2

      Conserved Domains (2) summary
      pfam08241
      Location:81184
      Methyltransf_11; Methyltransferase domain
      cl17173
      Location:38117
      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_011515779.3XP_011514081.1  18S rRNA (guanine-N(7))-methyltransferase isoform X3

      Conserved Domains (1) summary
      pfam08241
      Location:58161
      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_054357199.1XP_054213174.1  18S rRNA (guanine-N(7))-methyltransferase isoform X1

      UniProtKB/TrEMBL
      Q75ME3
    2. XM_054357200.1XP_054213175.1  18S rRNA (guanine-N(7))-methyltransferase isoform X2

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