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FLASH GENE
Symbol SETBP1 contributors: mct - updated : 06-09-2014
HGNC name SET binding protein 1
HGNC id 15573
Corresponding disease
MRD29 mental retardation, autosomal dominant 29
SGDS Schinzel-Giedion syndrome
Location 18q12.3      Physical location : 42.260.137 - 42.648.473
Synonym name moraxella nascent polypeptide-associated complex alpha polypeptide homolog
Synonym symbol(s) KIAA0437, NACAL, NACAR, SEB, DKFZp666J1210
DNA
TYPE functioning gene
STRUCTURE 388.34 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
RIT2 18q12.3 Ras-like without CAAX 2 SYT4 18q12.3 synaptotagmin IV LOC342732 18q21.1 similar to cytokeratin 8 LOC388475 18 LOC388475 SETBP1 18q21.1 SET binding protein 1 SLC14A2 18q12.1-q21.1 solute carrier family 14 (urea transporter), member 2 SLC14A1 18q12 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) LOC284266 KIAA1632 18q21.1 KIAA1632 protein PSTPIP2 18q12 proline-serine-threonine phosphatase interacting protein 2 ATP5A1 18q12-q21 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle LOC115106 MGC12909 18q21.1 hypothetical protein MGC12909 FLJ34218 18q21.1 hypothetical protein FLJ34218 FLJ32670 18q21.1 hypothetical protein FLJ32670 SIAT8E 18q12.3-q21.1 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) MIZ1 18q12.1-q12.3 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) TCEB3L2 18q12,3 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) TCEB3L 18q21.1 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) DKFZP564D1378 18q21.1 hypothetical protein DKFZp564D1378
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 9899 169 1596 - 2001 11231286
  • isoform a
    • 4 - 1804 - 242 - 2001 11231286
  • isoform b
    		•
    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,nucleus
    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
    • 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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation of SETBP1 cause Schinzel-Giedion syndrome (Hoischen 2010)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS