WBSCR22

Protein-coding gene in the species Homo sapiens
BUD23
Identifiers
AliasesBUD23, 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 IDsOMIM: 615733; MGI: 1913388; HomoloGene: 5486; GeneCards: BUD23; OMA:BUD23 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for BUD23
Genomic location for BUD23
Band7q11.23Start73,683,025 bp[1]
End73,705,161 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for BUD23
Genomic location for BUD23
Band5|5 G2Start135,081,811 bp[2]
End135,093,813 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 135.08 – 135.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000071462 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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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