BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

Also Known as WBMT; MERM1; PP3381; HUSSY-3; WBSCR22; HASJ4442

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 114049

About BUD23

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,683,597-73,698,212 (from NCBI)

This gene has 18 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 63.4), thyroid (RPKM 24.2) and 25 other tissues.

Summary

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. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

BUD23 Products (2)

mRNA	Protein	Name
NM_001202560.3	NP_001189489.1	probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1
NM_017528.5	NP_059998.2	probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25851604	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	25851604	GOA
enables rRNA (guanine) methyltransferase activity	IMP IMP: Inferred from mutant phenotype	25851604	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of rRNA processing	IMP IMP: Inferred from mutant phenotype	25851604	GOA
involved in rRNA (guanine-N7)-methylation	IMP IMP: Inferred from mutant phenotype	25851604	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleoplasm	IDA IDA: Inferred from direct assay	25851604	GOA
located in nucleus	IDA IDA: Inferred from direct assay	34948388	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	25851604	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BUD23 Protein Structure

Methyltransf_11

WBS_methylT

0
100
200
281 a.a.

Protein Preferred Names	Protein Names
probable 18S rRNA (guanine-N(7))-methyltransferase	Williams-Beuren candidate region putative methyltransferase

BUD23 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	34948388
Intra	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	33961781
Intra	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	28514442
Intra	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Validated Y2H	32296183
Intra	BUD23	O43709	TRMT112	Homo sapiens	Q9UI30	Confocal	34948388

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Valproate Embryopathy	Fetal Valproate Syndrome Fetal Valproic Acid Syndrome Fvs Valproic Acid Embryopathy Fetal Valproate Spectrum Disorder Valproate Embryopathy, Susceptibility To Foetal Valproate Syndrome Foetal Valproic Acid Syndrome Susceptibility To Valproate Embryopathy Valproic Acid Antenatal Infection
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Williams-Beuren Region Duplication Syndrome	7q11.23 Duplication Syndrome 7q11.23 Microduplication Syndrome Chromosome 7q11.23 Duplication Syndrome Wbs Duplication Syndrome Somerville-Van Der Aa Syndrome Dup(7)(Q11.23) Trisomy 7q11.23 William-Beuren Region Duplication Syndrome Chromosome 7q11.23 Duplication
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01685	BUD23 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BUD23	VGNC	VGNC:26608
Macaca mulatta	BUD23	VGNC	VGNC:70325
Rattus norvegicus	BUD23	RGD	RGD:1589742
Mus musculus	BUD23	MGD	MGI:1913388
Canis familiaris	BUD23	VGNC	VGNC:103662
Felis catus	BUD23	VGNC	VGNC:60212
Others	BUD23	NCBI