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 var... See more...

Aliases for BUD23 Gene

Aliases for BUD23 Gene

  • BUD23 RRNA Methyltransferase And Ribosome Maturation Factor 2 3 5
  • Metastasis-Related Methyltransferase 1 2 3 4
  • Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
  • RRNA Methyltransferase And Ribosome Maturation Factor 3 4
  • Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3 4
  • Williams-Beuren Syndrome Chromosome Region 22 2 3
  • Bud Site Selection Protein 23 Homolog 3 4
  • WBSCR22 3 4
  • MERM1 3 4
  • Williams-Beuren Candidate Region Putative Methyltransferase 3
  • Ribosome Biogenesis Methyltransferase WBSCR22 3
  • Williams Beuren Syndrome Chromosome Region 22 2
  • EC 2.1.1.- 4
  • HASJ4442 3
  • HUSSY-3 3
  • PP3381 3
  • WBMT 3

External Ids for BUD23 Gene

Previous HGNC Symbols for BUD23 Gene

  • WBSCR22

Summaries for BUD23 Gene

Entrez Gene Summary for BUD23 Gene

  • 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]

GeneCards Summary for BUD23 Gene

BUD23 (BUD23 RRNA Methyltransferase And Ribosome Maturation Factor) is a Protein Coding gene. Diseases associated with BUD23 include Williams-Beuren Syndrome and Valproate Embryopathy. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.

UniProtKB/Swiss-Prot Summary for BUD23 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).

Gene Wiki entry for BUD23 Gene

Additional gene information for BUD23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BUD23 Gene

Genomics for BUD23 Gene

GeneHancer (GH) Regulatory Elements for BUD23 Gene

Promoters and enhancers for BUD23 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BUD23 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BUD23

Genomic Locations for BUD23 Gene

Genomic Locations for BUD23 Gene
chr7:73,683,025-73,705,161
(GRCh38/hg38)
Size:
22,137 bases
Orientation:
Plus strand
chr7:73,097,355-73,119,491
(GRCh37/hg19)
Size:
22,137 bases
Orientation:
Plus strand

Genomic View for BUD23 Gene

Genes around BUD23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUD23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BUD23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BUD23 Gene

Proteins for BUD23 Gene

  • Protein details for BUD23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43709-BUD23_HUMAN
    Recommended name:
    Probable 18S rRNA (guanine-N(7))-methyltransferase
    Protein Accession:
    O43709
    Secondary Accessions:
    • A8K501
    • C9K060
    • Q96P12
    • Q9BQ58
    • Q9HBP9

    Protein attributes for BUD23 Gene

    Size:
    281 amino acids
    Molecular mass:
    31880 Da
    Quaternary structure:
    • Heterodimer with TRMT112; this heterodimerization is necessary for the metabolic stability and activity of the catalytic subunit BUD23 (PubMed:25851604). Interacts with GRIP1.
    SequenceCaution:
    • Sequence=AAG17249.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BUD23 Gene

    Alternative splice isoforms for BUD23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BUD23 Gene

Post-translational modifications for BUD23 Gene

  • May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.
  • Ubiquitination at Lys196, Lys255, and Lys256
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BUD23 Gene

Domains & Families for BUD23 Gene

Gene Families for BUD23 Gene

Protein Domains for BUD23 Gene

Blocks:
  • Methyltransferase type 11
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BUD23 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95974, Homo sapiens Williams Beuren syndrome chromosome region 22(WBSCR22), mRNA (A8K501_HUMAN)
  • cDNA FLJ33843 fis, clone CTONG2005110, moderately similar to methyltransferase WBSCR22 (EC 2.1.1.-) (B3KR83_HUMAN)
  • Williams-Beuren syndrome chromosomal region 22 protein (WBS22_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43709

UniProtKB/Swiss-Prot:

BUD23_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.
genes like me logo Genes that share domains with BUD23: view

Function for BUD23 Gene

Molecular function for BUD23 Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a guanosine in 18S rRNA + S-adenosyl-L-methionine = an N(7)-methylguanosine in 18S rRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:54584, Rhea:RHEA-COMP:13937, Rhea:RHEA-COMP:13938, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Up-regulated in CD8+ T lymphocytes by treatment with anti-CD3 and in B lymphocytes by treatment with CD40 ligand and anti-B cell receptor antibody. In macrophages, no induction following LPS treatment. Down-regulated by a combined treatment with TNF and IFNG (at protein level).

Enzyme Numbers (IUBMB) for BUD23 Gene

Phenotypes From GWAS Catalog for BUD23 Gene

Gene Ontology (GO) - Molecular Function for BUD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0008168 methyltransferase activity NAS 11124703
GO:0016435 rRNA (guanine) methyltransferase activity IMP,IEA 25851604
GO:0016740 transferase activity IEA --
GO:0046982 protein heterodimerization activity IDA 25851604
genes like me logo Genes that share ontologies with BUD23: view
genes like me logo Genes that share phenotypes with BUD23: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BUD23

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BUD23 Gene

Localization for BUD23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BUD23 Gene

Nucleus. Nucleus, nucleoplasm. Cytoplasm, perinuclear region. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). {ECO:0000269 PubMed:24488492, ECO:0000269 PubMed:25851604}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BUD23 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BUD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,IDA --
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IDA,IEA 25851604
genes like me logo Genes that share ontologies with BUD23: view

Pathways & Interactions for BUD23 Gene

genes like me logo Genes that share pathways with BUD23: view

Gene Ontology (GO) - Biological Process for BUD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006364 rRNA processing IEA --
GO:0031167 rRNA methylation TAS --
GO:0032259 methylation IEA --
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with BUD23: view

No data available for SIGNOR curated interactions for BUD23 Gene

Drugs & Compounds for BUD23 Gene

(7) Drugs for BUD23 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3-hydroxyanthranilic acid Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0
5-methyltetrahydrofolic acid Investigational Nutra 0
Histidine Investigational Nutra 59
Serotonin Investigational Nutra 4422

(15) Additional Compounds for BUD23 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,6-Dimethoxypyrene
1-Hydroxy-6-methoxypyrene
  • 6-Methoxy-1-pyrenol
1-Hydroxyphenanthrene
  • 1-Hydroxyphenanthrene
  • 1-Phenanthrenol
1-Hydroxypyrene
  • 1-Hydroxy pyrene
  • 1-Pyrenol
  • Pyren-1-ol
5315-79-7
1-Methoxyphenanthrene
  • Methyl 1-phenanthryl ether
genes like me logo Genes that share compounds with BUD23: view

Transcripts for BUD23 Gene

mRNA/cDNA for BUD23 Gene

2 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BUD23 Gene

No ASD Table

Relevant External Links for BUD23 Gene

GeneLoc Exon Structure for
BUD23

Expression for BUD23 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BUD23

mRNA Expression by UniProt/SwissProt for BUD23 Gene:

O43709-BUD23_HUMAN
Tissue specificity: Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cells (at protein level). Tends to be down-regulated in lungs affected by inflammatory diseases or neoplasia (at protein level). Expressed in immune cells, including B and T lymphocytes and macrophages.

Evidence on tissue expression from TISSUES for BUD23 Gene

  • Nervous system(3.5)
  • Skin(3.4)
  • Lung(2.5)
  • Pancreas(2.5)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BUD23 Gene

Orthologs for BUD23 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BUD23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR22 31 30
  • 99.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wbscr22 31 30
  • 82.68 (n)
OneToOne
Bud23 17
cow
(Bos Taurus)
Mammalia WBSCR22 31 30
  • 82.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr22 30
  • 81.26 (n)
dog
(Canis familiaris)
Mammalia WBSCR22 30
  • 80.67 (n)
-- 31
  • 69 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia WBSCR22 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR22 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR22 31 30
  • 70.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WBSCR22 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr22 30
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr22 31 30
  • 67.97 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10903 31 30
  • 59.25 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003728 30
  • 59.12 (n)
worm
(Caenorhabditis elegans)
Secernentea C27F2.4 31 30
  • 53.57 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR066W 30
  • 54.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD23 33 31 30
  • 53.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05962g 30
  • 50.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57280 30
  • 55.2 (n)
rice
(Oryza sativa)
Liliopsida Os02g0804300 30
  • 57.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6763 31
  • 58 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00777 30
  • 56.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC26A3.06 30
  • 50.13 (n)
Species where no ortholog for BUD23 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BUD23 Gene

ENSEMBL:
Gene Tree for BUD23 (if available)
TreeFam:
Gene Tree for BUD23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BUD23: view image

Paralogs for BUD23 Gene

No data available for Paralogs for BUD23 Gene

Variants for BUD23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BUD23 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
768159 Benign: not provided 73,693,403(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BUD23 Gene

Structural Variations from Database of Genomic Variants (DGV) for BUD23 Gene

Variant ID Type Subtype PubMed ID
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for BUD23 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BUD23 Gene

Human Gene Mutation Database (HGMD)
BUD23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BUD23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BUD23 Gene

Disorders for BUD23 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BUD23 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
valproate embryopathy
  • valproate embryopathy, susceptibility to
bowen-conradi syndrome
  • bwcns
dubowitz syndrome
  • dubowitz's syndrome
leukoencephalopathy with vanishing white matter
  • cle
- elite association - COSMIC cancer census association via MalaCards
Search BUD23 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BUD23_HUMAN
  • Note=BUD23 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305 PubMed:11978965}.

Additional Disease Information for BUD23

genes like me logo Genes that share disorders with BUD23: view

No data available for Genatlas for BUD23 Gene

Publications for BUD23 Gene

  1. The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis. (PMID: 25851604) Zorbas C … Lafontaine DL (Molecular biology of the cell 2015) 2 3 4 54
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 54
  3. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A … Grzeschik KH (Cytogenetics and cell genetics 2001) 3 4 23 54
  4. The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. (PMID: 24488492) Jangani M … Ray DW (The Journal of biological chemistry 2014) 3 4 54
  5. The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. (PMID: 24086612) Õunap K … Kurg R (PloS one 2013) 3 4 54

Products for BUD23 Gene

Sources for BUD23 Gene