WBSCR22

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.[5][6][7]

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 HomoloGene: 5486 GeneCards: BUD23
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,683,025 bp[1] End 73,705,161 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,052,957 bp[2] End 135,064,959 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • methyltransferase activity • transferase activity • RNA binding • protein heterodimerization activity • rRNA (guanine) methyltransferase activity Cellular component • cytoplasm • cell nucleus • nucleoplasm • nucleolus • perinuclear region of cytoplasm Biological process • rRNA processing • methylation • metabolism • regulation of transcription, DNA-templated • ribosome biogenesis • transcription, DNA-templated • covalent chromatin modification • rRNA methylation • positive regulation of rRNA processing • rRNA (guanine-N7)-methylation • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	114049	66138
Ensembl	ENSG00000071462	ENSMUSG00000005378
UniProt	O43709	Q9CY21
RefSeq (mRNA)	NM_001202560 NM_017528	NM_025375 NM_001363324 NM_001363325 NM_001363326 NM_001363327
RefSeq (protein)	NP_001189489 NP_059998	NP_079651 NP_001350253 NP_001350254 NP_001350255 NP_001350256
Location (UCSC)	Chr 7: 73.68 – 73.71 Mb	Chr 5: 135.05 – 135.06 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000071462 - Ensembl, May 2017
2. 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.
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.
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.
7. "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

Further reading

• 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.
• 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. 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. 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. 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. doi:10.1038/nature03207. PMID 15635413.