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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; OMA:BUD23 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q11.23 Start 73,683,025 bp End 73,705,161 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 G2 Start 135,081,811 bp End 135,093,813 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 135.08 – 135.09 Mb PubMed search
Wikidata
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Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 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.

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. S2CID 29964959.
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.
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. 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.

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