WBSCR22

BUD23
Identifiers
AliasesBUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22, Williams-Beuren syndrome chromosome region 22, rRNA methyltransferase and ribosome maturation factor
External IDsMGI: 1913388 HomoloGene: 5486 GeneCards: BUD23
Gene location (Human)
Chr.Chromosome 7 (human)[1]
BandNo data availableStart73,683,025 bp[1]
End73,705,161 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

114049

66138

Ensembl

ENSG00000071462

ENSMUSG00000005378

UniProt

O43709

Q9CY21

RefSeq (mRNA)

NM_001202560
NM_017528

NM_025375

RefSeq (protein)

NP_001189489
NP_059998

NP_079651

Location (UCSC)Chr 7: 73.68 – 73.71 MbChr 7: 135.05 – 135.06 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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000071462 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005378 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. PMID 12073013. doi:10.1007/s00439-002-0710-x.
  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. PMID 11978965. doi:10.1159/000057012.
  7. 1 2 "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.