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

Gene ID: 114049, updated on 12-May-2019

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
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

Genomic context

See BUD23 in Genome Data Viewer
Location:
7q11.23
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73683568..73698221)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73097898..73112551)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VPS37D subunit of ESCRT-I Neighboring gene DnaJ heat shock protein family (Hsp40) member C30 Neighboring gene uncharacterized LOC105375350 Neighboring gene syntaxin 1A 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • rRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    rRNA modification in the nucleus and cytosol, organism-specific biosystemHuman ribosomal RNAs (rRNAs) contain about 200 residues that are enzymatically modified after transcription in the nucleolus (Maden and Khan 1977, Maden 1988, Maden and Hughes 1997, reviewed in Herna...
  • rRNA processing, organism-specific biosystem (from REACTOME)
    rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
  • rRNA processing in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    rRNA processing in the nucleus and cytosol, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2022, MGC5140, FLJ44236, MGC19709

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
probable 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
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

NCBI Reference Sequences (RefSeq)

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_001202560.2NP_001189489.1  probable 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, BM671506, BQ927478
    Consensus CDS
    CCDS56490.1
    UniProtKB/Swiss-Prot
    O43709
    Related
    ENSP00000401191.1, ENST00000423497.5
    Conserved Domains (2) summary
    pfam08241
    Location:58161
    Methyltransf_11; Methyltransferase domain
    pfam12589
    Location:204296
    WBS_methylT; Methyltransferase involved in Williams-Beuren syndrome
  2. NM_017528.4NP_059998.2  probable 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, BM671506
    Consensus CDS
    CCDS5557.1
    UniProtKB/Swiss-Prot
    O43709
    Related
    ENSP00000265758.2, ENST00000265758.6
    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_037776.2 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, BM671506, BM794274, BP280183, BQ961799
    Related
    ENST00000430270.5
  2. NR_045512.1 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, BM671506, BP280183, BQ930813, DB276687

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    73683568..73698221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515779.2XP_011514081.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform X3

    Conserved Domains (1) summary
    pfam08241
    Location:58161
    Methyltransf_11; Methyltransferase domain
  2. XM_006715847.1XP_006715910.1  probable 18S rRNA (guanine-N(7))-methyltransferase isoform X1

    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). ...
  3. XM_011515778.1XP_011514080.1  probable 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). ...

RNA

  1. XR_002956407.1 RNA Sequence

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