BUD23
entrez
114049
canonical
uniprot
O43709
canonical
ensembl
ENSG00000071462
resolver
ensp
ENSP00000265758
resolver
ensp
ENSP00000526056
resolver
ensp
ENSP00000660786
resolver
genesymbol
BUD23
resolver
genesymbol_syn
MERM1
resolver
genesymbol_syn
WBSCR22
resolver
hgnc
HGNC:16405
resolver
uniprot
A8K501
resolver
uniprot
C9K060
resolver
uniprot
Q96P12
resolver
uniprot
Q9BQ58
resolver
uniprot
Q9HBP9
resolver
uniprot_entry
BUD23_HUMAN
resolver
uniprot_sec
A8K501
resolver
uniprot_sec
C9K060
resolver
uniprot_sec
Q96P12
resolver
uniprot_sec
Q9BQ58
resolver
uniprot_sec
Q9HBP9
resolver
amino_acid_sequence
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF
uniprot
proteins
disease_involvement
DISEASE: Note=BUD23 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305|PubMed:11978965}.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492). {ECO:0000250, ECO:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:25851604}.
uniprot
proteins
mass_dalton
31880
uniprot
proteins
mutagenesis
MUTAGEN 180; /note="K->R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-196."; /evidence="ECO:0000269|PubMed:24488492"; MUTAGEN 196; /note="K->R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-180."; /evidence="ECO:0000269|PubMed:24488492
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated and targeted to degradation in response to pro-inflammatory cytokine signaling. {ECO:0000305}.
uniprot
proteins
protein_family
BUD23/WBSCR22 family
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
11124703
uniprot
proteins
pubmed
11978965
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24086612
uniprot
proteins
pubmed
24488492
uniprot
proteins
pubmed
25851604
uniprot
proteins
pubmed
34948388
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:34948388}. Nucleus, nucleoplasm {ECO:0000269|PubMed:25851604}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:25851604}. Cytoplasm {ECO:0000269|PubMed:24488492}. Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). {ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:25851604}.
uniprot
proteins