BUD23
BUD23 rRNA methyltransferase and ribosome maturation factor
Gene Information Card
| Symbol | BUD23 |
|---|---|
| Full Name | BUD23, rRNA methyltransferase and ribosome maturation factor |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 114049 ncbi.nlm.nih.gov/gene/114049 |
| Ensembl ID | ENSG00000106268 |
| UniProt ID | O43709 |
| OMIM ID | 607534 |
| HGNC ID | 16405 |
| Aliases | WBSCR22, MERM1, SWM1 |
Description
BUD23 (BUD23, rRNA methyltransferase and ribosome maturation factor) is a protein-coding gene located on chromosome 7q11.23. It encodes a methyltransferase that catalyzes the 7-methylguanosine modification of 18S rRNA, a critical step in small ribosomal subunit biogenesis. BUD23 is also known as WBSCR22 (Williams-Beuren syndrome chromosomal region 22) and is deleted in Williams-Beuren syndrome. The protein plays roles in ribosome assembly, translation regulation, and cellular proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency due to deletion of BUD23 within the 7q11.23 region contributes to the neurodevelopmental and growth phenotypes. | OMIM #194050 |
| Cancer (various) | Dysregulated BUD23 expression affects ribosome biogenesis and translation, promoting tumorigenesis. | COSMIC; PMID: 25657329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| K562 | 12.1 | Medium expression |
| HepG2 | 9.8 | Medium expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Deletion or inactivating mutations in BUD23 impair 18S rRNA methylation and ribosome maturation, leading to reduced translation and cell growth defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • methyltransferase activity (GO:0008168) |
| • rRNA processing (GO:0006364) | • nucleolus (GO:0005730) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA modification in the nucleus and cytosol (Reactome: R-HSA-6790901)
Protein Summary
The BUD23 protein is a 267-amino acid methyltransferase localized to the nucleolus. It specifically methylates the N7 position of guanosine at position 1639 of 18S rRNA, a modification essential for pre-rRNA processing and assembly of the small ribosomal subunit. BUD23 interacts with ribosome assembly factors and exportins to facilitate nuclear export of pre-40S particles. Loss of BUD23 function leads to defective ribosome biogenesis and is implicated in Williams-Beuren syndrome and cancer.
Related Services
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