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Gene: BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor) Homo sapiens
Symbol: BUD23
Name: BUD23 rRNA methyltransferase and ribosome maturation factor
Description: Exhibits protein heterodimerization activity and rRNA (guanine) methyltransferase activity. Involved in positive regulation of rRNA processing and rRNA (guanine-N7)-methylation. Localizes to the nucleolus; nucleoplasm; and perinuclear region of cytoplasm. Implicated in Williams-Beuren syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bud site selection protein 23 homolog; BUD23, rRNA methyltransferase and ribosome maturation factor; FLJ44236; HASJ4442; HUSSY-3; MERM1; metastasis-related methyltransferase 1; MGC19709; MGC2022; MGC5140; PP3381; probable 18S rRNA (guanine-N(7))-methyltransferase; ribosome biogenesis methyltransferase WBSCR22; rRNA methyltransferase and ribosome maturation factor; uncharacterized methyltransferase WBSCR22; WBMT; WBSCR22; Williams Beuren syndrome chromosome region 22; Williams-Beuren candidate region putative methyltransferase; Williams-Beuren syndrome chromosomal region 22 protein; Williams-Beuren syndrome chromosome region 22
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38773,683,571 - 73,698,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37773,097,898 - 73,112,551 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,735,834 - 72,750,478 (+)NCBINCBI36hg18NCBI36
Build 34772,542,548 - 72,557,192NCBI
Celera768,576,112 - 68,590,746 (+)NCBI
Cytogenetic Map7q11.23NCBI
HuRef768,980,309 - 68,994,966 (+)NCBIHuRef
CHM1_1773,243,634 - 73,258,288 (+)NCBICHM1_1
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on BUD23
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344086
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.