WBSCR22

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

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
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q11.23Start73,683,025 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
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: 135.05 – 135.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 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


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