• Gene id: 114049

Gene Summary

• Gene Symbol: BUD23   Gene   UCSC   Ensembl
• Aliases: HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22
• Gene name: BUD23 rRNA methyltransferase and ribosome maturation factor
• Alternate names: probable 18S rRNA (guanine-N(7))-methyltransferase, Williams-Beuren candidate region putative methyltransferase, Williams-Beuren syndrome chromosomal region 22 protein, Williams-Beuren syndrome chromosome region 22, bud site selection protein 23 homolog, metas,
• Gene location: 7q11.23 (73683570: 73698211)     Exons: 13     NC_000007.14
• Gene summary(Entrez): 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 m
• OMIM: 615203

Protein Summary

• Protein general information: O43709  
  • Name: Probable 18S rRNA (guanine N(7)) methyltransferase (EC 2.1.1. ) (Bud site selection protein 23 homolog) (Metastasis related methyltransferase 1) (Williams Beuren syndrome chromosomal region 22 protein) (rRNA methyltransferase and ribosome maturation facto
  • Length: 281  
  • Mass: 31880
  • 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 cel
• Sequence:

  MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEG
  HYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLF
  SVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEP
  RESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF

• Structural information:
  • Interpro: IPR039769  IPR022238  IPR013216  IPR029063  
  • PDB: 6G4W
  • PDBsum: 6G4W
  • STRING: ENSP00000401191
• Other Databases: GeneCards:  BUD23  Malacards:  BUD23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016435	rRNA (guanine) methyltransferase activity	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:0070476	rRNA (guanine-N7)-methylation	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0016435	rRNA (guanine) methyltransferase activity	IMP	molecular function
GO:2000234	positive regulation of rRNA processing	IMP	biological process
GO:0070476	rRNA (guanine-N7)-methylation	IMP	biological process
GO:0016435	rRNA (guanine) methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0070476	rRNA (guanine-N7)-methylation	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031167	rRNA methylation	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0008168	methyltransferase activity	NAS	molecular function

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	PMID:11978965
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)