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FLASH GENE
Symbol SBDS contributors: mct - updated : 25-11-2020
HGNC name SBDS ribosome maturation factor
HGNC id 19440
Corresponding disease
SDS1 Shwachman-Diamond syndrome
Location 7q11.21      Physical location : 66.452.689 - 66.460.588
Synonym name
  • Shwachman-Bodian-Diamond syndrome protein
  • ribosome maturation protein SBDS
  • SBDS, ribosome assembly guanine nucleotide exchange factor
  • Synonym symbol(s) SDS, CGI-97, SWDS, FLJ10917
    DNA
    TYPE functioning gene
    STRUCTURE 7.90 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1605 - 250 - 2002 12032733
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepancreas exocrine    
     pharynx   highly
    Lymphoid/Immunethymus    
    Nervousnerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Sbds
    Homologene
    FAMILY
  • sulfotransferase 1 family
  • SDO1/SBDS family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • nucleolar localization during G1 and G2 and diffuse nuclear localization during S phase
  • but majority of SBDS is in the cytoplasm
  • basic FUNCTION
  • may be playing a role in RNA metabolism
  • required for accurate expression of genes important for proper brain, skeletal, and blood cell development
  • might play an important role in Fas-mediated apoptosis
  • implicated in ribosome biogenesis, and having a role in stabilized the mitotic spindle to prevent genomic instability
  • multi-functional protein, having a function beyond ribosome biogenesis (may provide insight into the poorly understood cancer predisposition of SBDS patients)
  • its essential role is to tightly couple GTP hydrolysis by EFL1 on the ribosome to EIF6 release
  • SBDS and EFNA1 directly catalyze EIF6 removal in mammalian cells by a mechanism that requires GTP binding and hydrolysis by EFNA1 but not phosphorylation of EIF6 Ser 235
  • direct role for SBDS and EFNA1 in catalyzing the translational activation of ribosomes
  • potential role for SBDS in nuclear export of ribosomal pre-60S subunits
  • influence many cellular processes including ribosome biogenesis, mitotic spindle assembly, chemotaxis, and the regulation of reactive oxygen species production
  • SBDS protein is important for ribosome maturation
  • is a protein required for the maturation of 60S ribosomes
  • SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with NIP7
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to at least one protein component of the large ribosomal subunit (RPL4) (consistent with reports that SBDS co-fractionates with the 60S ribosomal subunit and may bind ribosomal RNA)
  • SBDS and the GTPase elongation factor-like 1 (EFL1) directly catalyze EIF6 removal in mammalian cells by a mechanism that requires GTP binding and hydrolysis by EFL1 but not phosphorylation of EIF6 Ser 235
  • EFL1 interaction with SBDS, and roles of EFL1 and SBDS in ribosomal maturation
  • SBDS acts as a guanine nucleotide exchange factor (GEF) for EFL1 promoting its activation by the release of GDP
  • SBDS could specifically bind to TPP1 during the S phase of cell cycle, likely functioning as a stabilizer for TPP1-telomerase interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SDS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    results in abnormal accumulation of Fas at the plasma membrane, where it sensitizes the cells to stimulation by Fas ligand
    constitutional       loss of function
    SBDS loss causes a reduction in ATP and lactate levels, and increased susceptibility to DNA damage
    Susceptibility to acquired aplastic anemia (AA)
    Variant & Polymorphism other heterozygosity for the 258 + 2 T>C SBDS mutation predisposes to AA by accelerating telomere shortening of leukocytes via a telomerase-independent mechanism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS