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FLASH GENE
Symbol SETBP1 contributors: mct - updated : 06-09-2011
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
    • 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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation of SETBP1 cause Schinzel-Giedion syndrome (Hoischen 2010)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS