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Gene: BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor) Homo sapiens
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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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BUD23
Alliance Gene
NCBI 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



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