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
External Ids for BUD23 Gene
Previous HGNC Symbols 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).