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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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0005515 | protein binding | IPI | 25851604 |
GO:0008168 | methyltransferase activity | NAS | 11124703 |
GO:0016435 | rRNA (guanine) methyltransferase activity | IEA,IMP | 25851604 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IBA,IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0048471 | perinuclear region of cytoplasm | IEA,IDA | 25851604 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
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2 | Gene Expression |
.48
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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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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1,6-Dimethoxypyrene |
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1-Hydroxy-6-methoxypyrene |
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1-Hydroxyphenanthrene |
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1-Hydroxypyrene |
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5315-79-7 |
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1-Methoxyphenanthrene |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WBSCR22 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wbscr22 30 31 |
|
OneToOne | |
Bud23 17 |
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Cow (Bos Taurus) |
Mammalia | WBSCR22 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wbscr22 30 |
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Dog (Canis familiaris) |
Mammalia | WBSCR22 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | WBSCR22 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | WBSCR22 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WBSCR22 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WBSCR22 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wbscr22 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | wbscr22 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10903 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003728 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | C27F2.4 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR066W 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BUD23 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F05962g 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G57280 30 |
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Rice (Oryza sativa) |
Liliopsida | Os02g0804300 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6763 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00777 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC26A3.06 30 |
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SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs79257360 | Benign: not provided | 73,693,403(+) |
C/T NM_017528.5(BUD23):c.585C>T (p.Ala195=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
williams-beuren syndrome |
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valproate embryopathy |
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bowen-conradi syndrome |
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cardiomyopathy, familial restrictive, 1 |
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dubowitz syndrome |
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