ID  O43709;
PN  Probable 18S rRNA (guanine-N(7))-methyltransferase;
GN  BUD23;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: 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}.
DR  UNIPROT: O43709;
DR  UNIPROT: A8K501;
DR  UNIPROT: C9K060;
DR  UNIPROT: Q96P12;
DR  UNIPROT: Q9BQ58;
DR  UNIPROT: Q9HBP9;
DR  PDB: 6G4W;
DR  Pfam: PF08241;
DR  Pfam: PF12589;
DR  OMIM: 194050;
DR  OMIM: 615733;
DR  DisGeNET: 114049;
DE  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}.
DE  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}.
DE  Reference Proteome: Yes;
DE  Interaction: Q9Y478; IntAct: EBI-1079549; Score: 0.00
DE  Interaction: P01100; IntAct: EBI-2692676; Score: 0.00
DE  Interaction: Q5NHY6; IntAct: EBI-2799823; Score: 0.00
DE  Interaction: P00973; IntAct: EBI-3942303; Score: 0.37
DE  Interaction: Q16512; IntAct: EBI-3942313; Score: 0.37
DE  Interaction: P55072; IntAct: EBI-3942323; Score: 0.37
DE  Interaction: Q13618; IntAct: EBI-21329068; Score: 0.35
DE  Interaction: Q6ZWV7; IntAct: EBI-10997876; Score: 0.35
DE  Interaction: P06748; IntAct: EBI-11145880; Score: 0.35
DE  Interaction: Q9UI30; IntAct: EBI-23853163; Score: 0.83
DE  Interaction: D0UZS0; IntAct: EBI-14064021; Score: 0.35
DE  Interaction: Q9C0C9; IntAct: EBI-21894427; Score: 0.35
DE  Interaction: Q8IUE6; IntAct: EBI-21894427; Score: 0.35
DE  Interaction: Q9IK91; IntAct: EBI-25747231; Score: 0.35
DE  Interaction: P0DTC9; IntAct: EBI-27129711; Score: 0.35
DE  Interaction: P59595; IntAct: EBI-27129966; Score: 0.35
DE  Interaction: P15130; IntAct: EBI-27131516; Score: 0.35
DE  Interaction: Q0ZME3; IntAct: EBI-27131755; Score: 0.35
DE  Interaction: Q6Q1R8; IntAct: EBI-27132003; Score: 0.35
DE  Interaction: K9N4V7; IntAct: EBI-27132270; Score: 0.35
DE  Interaction: P33469; IntAct: EBI-27132272; Score: 0.35
DE  Interaction: Q9BXK1; IntAct: EBI-29019783; Score: 0.35
DE  Interaction: O95600; IntAct: EBI-29020196; Score: 0.35
GO  GO:0005730;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0008168;
GO  GO:0046982;
GO  GO:0003723;
GO  GO:0016435;
GO  GO:0006325;
GO  GO:2000234;
GO  GO:0070476;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVG
SQ  LDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAV
SQ  LQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMS
SQ  RRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF
//