BUD23 - BUD23 rRNA methyltransferase and ribosome maturation factor Gene

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

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

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

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