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FLASH GENE
Symbol SETBP1 contributors: mct - updated : 18-01-2023
HGNC name SET binding protein 1
HGNC id 15573
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Hearing/Equilibriumear   highly
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SKI oncoprotein homologous region
  • six PEST sequences
  • three AT hook DNA-binding domains
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to moraxella nascent polypeptide-associated complex alpha polypeptide
    Homologene
    FAMILY
    CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • playing a role in the mechanism of SET related leukemogenesis and tumorigenesis
  • SETBP1 activation represents a novel mechanism conferring self-renewal capability to myeloid progenitors in myeloid leukemia development
  • pathogenetic roles for SETBP1 and ASXL1 mutations in disease evolution into blast phase disease and chronic myelomonocytic leukemia (CMML), respectively
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with SET
  • HOXA9, HOXA10 are direct transcriptional targets of SETBP1
  • MYB expression is critical for myeloid leukemia development induced by SETBP1 activation
  • interaction with XPO1 is essential for SETBP1 to induce myeloid transformation
  • SETBP1 is a crucial target of TRIM29, and TRIM29 facilitated SETBP1 transcriptional activation via the VEZF1 transcription factor
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SGDS , MRD29
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with NUP98 in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)
    tumoral somatic mutation      
    cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML)
    tumoral somatic mutation      
    associated with CSF3R and/or ASXL1 mutation in chronic neutrophilic leukemia (CNL)
    tumoral somatic mutation      
    recurrent SETBP1 mutations (p.Gly870Ser alteration abrogated a site for ubiquitination) in atypical chronic myeloid leukemia 6)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation of SETBP1 cause Schinzel-Giedion syndrome (Hoischen 2010)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS