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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
  • 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
  • Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3
  • Williams Beuren Syndrome Chromosome Region 22 2
  • Ribosome Biogenesis Methyltransferase WBSCR22 3
  • 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. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.

UniProtKB/Swiss-Prot for BUD23 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. 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 , fRNAdb sequence ontologies and piRNA Summary for BUD23 Gene

Genomics for BUD23 Gene

Regulatory Elements for BUD23 Gene

Enhancers for BUD23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.5 +167.9 167931 3 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK SP3 JUNB SMARCB1 METTL27 BUD23 ELN DNAJC30 VPS37D STAG3L3 MIR590 POM121B BCL7B GC07M073847
GH07H073825 1.6 Ensembl ENCODE dbSUPER 25.9 +146.9 146912 8 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ZNF207 METTL27 BUD23 STAG3L3 POM121B POM121 TMEM270 NSUN5P2 DNAJC30 NSUN5 VPS37D
GH07H072827 1.3 ENCODE dbSUPER 24.5 -853.5 -853460 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 STAG3L3 POM121B POM121 NSUN5P2 TBL2 TYW1B FKBP6 NSUN5 BUD23 PMS2P7
GH07H073736 2 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +57.7 57700 7 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 METTL27 STAG3L3 POM121B ABHD11-AS1 POM121 NSUN5P2 MIR590 FKBP6 BUD23 SPDYE7P
GH07H073791 1.5 Ensembl ENCODE dbSUPER 14.7 +110.1 110140 3 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ELK1 FOS STAG3L3 TBL2 FKBP6 BUD23 POM121B POM121 METTL27 ABHD11 CLDN4 CLDN3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BUD23 on UCSC Golden Path with GeneCards custom track

Promoters for BUD23 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213495 475 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 ZHX2

Genomic Location for BUD23 Gene

Chromosome:
7
Start:
73,683,025 bp from pter
End:
73,705,161 bp from pter
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:
    • Interacts with GRIP1.
    SequenceCaution:
    • Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203; Evidence={ECO:0000305};

    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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BUD23 Gene

Domains & Families for BUD23 Gene

Gene Families for BUD23 Gene

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 CatalyticActivity:
S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA.
UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. 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 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 IDA 22681889
GO:0008168 methyltransferase activity NAS 11124703
GO:0016435 rRNA (guanine) methyltransferase activity IBA,IMP 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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BUD23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, nucleolus. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment. {ECO:0000269 PubMed:24488492}.

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 3
cytosol 2
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for BUD23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IBA --
GO:0005737 cytoplasm IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process 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
L-Histidine Approved Nutra 0
Tetrahydrofolic acid Approved Nutra 0
3-hydroxyanthranilic acid Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0
Serotonin Pharma 3691

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

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

Transcripts for BUD23 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BUD23
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for BUD23 Gene

GeneLoc Exon Structure for
BUD23
ECgene alternative splicing isoforms for
BUD23

Expression for BUD23 Gene

NURSA nuclear receptor signaling pathways regulating expression of BUD23 Gene:

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(2.6)
  • Pancreas(2.5)

Primer Products

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 33 34
  • 99.44 (n)
mouse
(Mus musculus)
Mammalia Wbscr22 33 34
  • 82.68 (n)
Bud23 16
cow
(Bos Taurus)
Mammalia WBSCR22 33 34
  • 82.09 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr22 33
  • 81.26 (n)
dog
(Canis familiaris)
Mammalia WBSCR22 33
  • 80.67 (n)
-- 34
  • 69 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia WBSCR22 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR22 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR22 33 34
  • 70.7 (n)
lizard
(Anolis carolinensis)
Reptilia WBSCR22 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr22 33
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr22 33 34
  • 67.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10903 33 34
  • 59.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003728 33
  • 59.12 (n)
worm
(Caenorhabditis elegans)
Secernentea C27F2.4 33 34
  • 53.57 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR066W 33
  • 54.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD23 33 34 36
  • 53.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05962g 33
  • 50.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57280 33
  • 55.2 (n)
rice
(Oryza sativa)
Liliopsida Os02g0804300 33
  • 57.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6763 34
  • 58 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00777 33
  • 56.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC26A3.06 33
  • 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)

Paralogs for BUD23 Gene

No data available for Paralogs for BUD23 Gene

Variants for BUD23 Gene

Sequence variations from dbSNP and Humsavar for BUD23 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000360227 -- 73,695,715(+) ATTGC(A/T)GAACA intron-variant
rs1000844855 -- 73,690,667(+) ATGGG(C/G)TCTTG intron-variant
rs1001091525 -- 73,696,896(+) ACTTT(C/T)CCCCT intron-variant
rs1001172826 -- 73,692,131(+) CTGGC(C/T)GCTGG intron-variant
rs1001220 -- 73,696,273(-) GAATG(A/G)ACTAG intron-variant

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)

Relevant External Links 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

(1) MalaCards diseases for BUD23 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- 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}.

Relevant External Links for BUD23

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A … Grzeschik KH (Cytogenetics and cell genetics 2001) 2 3 4 22 60
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 60
  3. 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 60
  4. 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 60
  5. The novel metastasis promoter Merm1/Wbscr22 enhances tumor cell survival in the vasculature by suppressing Zac1/p53-dependent apoptosis. (PMID: 21148752) Nakazawa Y … Fujita N (Cancer research 2011) 2 3 60

Products for BUD23 Gene

Sources for BUD23 Gene

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