2. Gene
  3. BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 114049 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Methyltransf_11: Methyltransferase domain (58 - 133)

WBS_methylT

WBS_methylT: Methyltransferase involved in Williams-Beuren syndrome (205 - 280)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01685 BUD23 Human Pre-designed siRNA Set A Pre-designed Sets / 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