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FLASH GENE
Symbol BUD23 contributors: mct - updated : 06-11-2019
HGNC name BUD23 rRNA methyltransferase and ribosome maturation factor
HGNC id 16405
Location 7q11.23      Physical location : -
Synonym name
  • Williams-Beuren candidate region putative methyltransferase
  • Williams Beuren syndrome chromosome region 22
  • Synonym symbol(s) MGC19709, MGC2022, MGC5140, PP3381, WBMT, WBSCR22 HASJ4442, HUSSY-3, MERM1
    EC.number 2.1.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 14.64 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located in a region commonly deleted in Williams-Beuren syndrome
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1258 32 281 - 2013 15635413
    13 - 1252 - 298 - 2013 15635413
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one bipartite nuclear localization signal (NLS)
  • one S-adenosyl-L-methionine binding motif
  • one sequence with similarity to the Ubi E/coq5 methyltransferase family
  • HOMOLOGY
    interspecies homolog to C.elegans C27F2.4
    Homologene
    FAMILY
  • methyltransferase superfamily
  • gamma family of SAM-MTAse
  • CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • localized throughout the cell nucleus and is not stably associated with ribosomal subunits within the cell nucleus
  • basic FUNCTION
  • methyltransferase activity
  • enhances cancer cell survival in the vasculature by suppressing PLAGL1/TP53-dependent apoptosis, thereby enhancing metastasis
  • is a ribosome biogenesis factor involved in the biosynthesis of 40S ribosomal particles in mammalian cells
  • key role of BUD23 in 40S subunit biogenesis is likely independent of its function as an RNA methyltransferase (PMIID: 25525153)
  • 18S rRNA methyltransferase involved in pre-rRNA processing and ribosome 40S subunit biogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • last complex formed between TRMT112 and BUD23 proteins modifies 18S rRNA and participates in the 40S biogenesis pathway
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BUD23 is a novel regulator of chromatin structure affecting NR3C1 recruitment and function, contributing to loss of NR3C1 sensitivity in inflammation, with suppressed expression in pulmonary disease
  • TRMT112 is the interaction partner of BUD23, and stability of BUD23 is regulated through the interaction with TRMT112
  • TRMT112, a small protein (COG2835) conserved in all three domains of life, interacts and activates four methyltransferases (BUD23,N6AMT1) that target different components of the translation machinery (rRNA, tRNAs, release factors)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Williams-Beuren syndrome
    tumoral     --over  
    high levels of expression in invasive breast cancer (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS