BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor)

2017-04-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
HASJ4442,HUSSY-3,MERM1,PP3381,WBMT,WBSCR22

Other Information

Locus ID:

NCBI: 114049
MIM: 615733
HGNC: 16405
Ensembl: ENSG00000071462

Variants:

dbSNP: 114049
ClinVar: 114049
TCGA: ENSG00000071462
COSMIC: BUD23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071462ENST00000265758O43709
ENSG00000071462ENST00000421304F8VZ18
ENSG00000071462ENST00000421744F8WD87
ENSG00000071462ENST00000423497O43709
ENSG00000071462ENST00000428163F8WD67
ENSG00000071462ENST00000430270F8W1Y1
ENSG00000071462ENST00000430446H7C439
ENSG00000071462ENST00000432522E9PCQ7
ENSG00000071462ENST00000436944B3KR83
ENSG00000071462ENST00000441822F2Z3D9
ENSG00000071462ENST00000442099H7C170
ENSG00000071462ENST00000453316H7C0G4

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119789652001Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.33
258516042015The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.26
255251532015WBSCR22/Merm1 is required for late nuclear pre-ribosomal RNA processing and mediates N7-methylation of G1639 in human 18S rRNA.21
240866122013The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.18
244884922014The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer.13
262141852015The Stability of Ribosome Biogenesis Factor WBSCR22 Is Regulated by Interaction with TRMT112 via Ubiquitin-Proteasome Pathway.8
291338972017WBSCR22 confers oxaliplatin resistance in human colorectal cancer.4
253522092015Knockdown of Merm1/Wbscr22 attenuates sensitivity of H460 non-small cell lung cancer cells to SN-38 and 5-FU without alteration to p53 expression levels.3
305352322019Metastasis-related methyltransferase 1 (Merm1) represses the methyltransferase activity of Dnmt3a and facilitates RNA polymerase I transcriptional elongation.0

Citation

Dessen P

BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56847/bud23