BUD23

BUD23
Identifiers
Aliases	BUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22, Williams-Beuren syndrome chromosome region 22, rRNA methyltransferase and ribosome maturation factor, BUD23 rRNA methyltransferase and ribosome maturation factor
External IDs	OMIM: 615733; MGI: 1913388; GeneCards: BUD23
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,705,161 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,093,813 bp
RNA expression pattern
	Top expressed in
	right testis; ; left testis; ; islet of Langerhans; ; olfactory zone of nasal mucosa; ; gastrocnemius muscle; ; apex of heart; ; oocyte; ; right uterine tube; ; left ventricle; ; muscle of thigh;
	Top expressed in
	epiblast; ; embryo; ; embryo; ; ventricular zone; ; neural layer of retina; ; neural tube; ; ileum; ; limb; ; morula; ; mesencephalon;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; RNA binding; protein heterodimerization activity; rRNA (guanine) methyltransferase activity;
Cellular component	cytoplasm; nucleus; nucleoplasm; nucleolus; perinuclear region of cytoplasm;
Biological process	rRNA processing; methylation; metabolism; regulation of transcription, DNA-templated; ribosome biogenesis; transcription, DNA-templated; rRNA methylation; positive regulation of rRNA processing; rRNA (guanine-N7)-methylation; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	114049
	66138
	ENSG00000071462
	ENSMUSG00000005378
	O43709
	Q9CY21
	NM_001202560; NM_017528
	NM_025375; NM_001363324; NM_001363325; NM_001363326; NM_001363327
	NP_001189489; NP_059998
	NP_079651; NP_001350253; NP_001350254; NP_001350255; NP_001350256
	Wikidata
View/Edit Human	View/Edit Mouse

18S rRNA (guanine-N(7))-methyltransferase is an enzyme that in humans is encoded by the BUD23 gene (previously WBSCR22). This enzyme is involved in the production of the 40S ribosomal subunit, and is a coactivator for multiple steroid receptors (NR3C1-4).

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.

Gene symbol

This gene is an ortholog of a gene found in baker's yeast whose protein is involved in bud positioning and has been called "Bud site selection protein 23", hence BUD23.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000071462 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005378 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.
↑ Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet. 95 (1–2): 20–7. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.
1 2 "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".
↑ "18S rRNA (guanine-N(7))-methyltransferase". uniprot.org. UniProt consortium. Retrieved 2026-09-11.
↑ "18S rRNA (guanine(1575)-N(7))-methyltransferase (yeast)". uniprot.org. UniProt consortium. Retrieved 2026-09-11.

Stanchi F, Bertocco E, Toppo S, et al. (2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences". Yeast. 18 (1): 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703. S2CID 21397515.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000071462 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005378 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12073013-5] Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.

[pmid11978965-6] Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet. 95 (1–2): 20–7. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.

[entrez-7] 1 2 "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

[8] "18S rRNA (guanine-N(7))-methyltransferase". uniprot.org. UniProt consortium. Retrieved 2026-09-11.

[9] "18S rRNA (guanine(1575)-N(7))-methyltransferase (yeast)". uniprot.org. UniProt consortium. Retrieved 2026-09-11.

BUD23

Gene symbol

References

Further reading