Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SET contributors: mct - updated : 22-02-2012
HGNC name SET translocation (myeloid leukemia-associated)
HGNC id 10760
Corresponding disease
SET acute undifferentiated leukemia (AUL)
Location 9q34.11      Physical location : 131.445.933 - 131.458.674
Synonym name
  • set oncogene,fused with CAN gene in acute undifferentiated leukemia
  • TATA-box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD
  • Synonym symbol(s) PHAPII, TAF-Ibeta, EVI42, I2PP2A, IGAAD, 2PP2A
    DNA
    TYPE functioning gene
    STRUCTURE 12.74 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    PTGES2 9q34.13 prostaglandin E synthase 2 LOC389791 9 hypothetical gene supported by AK094537 LCN2 9q34 lipocalin 2 (oncogene 24p3) C9orf16 9q34.1 chromosome 9 open reading frame 16 CIZ1 9q34.13 chromosome 9 open reading frame 16 DNM1 9q34 dynamin 1 GOLGA2 9q34.13 golgi autoantigen, golgin subfamily a, 2 LOC375757 9q34.13 hypothetical protein LOC375757 FLJ21673 9q34.13 hypothetical protein FLJ21673 CLONE24922 COQ4 9q34.13 coenzyme Q4 homolog (yeast) TMSL4 9 thymosin-like 4 SLC27A4 9q34.13 solute carrier family 27 (fatty acid transporter), member 4 C9orf74 9q34.13 chromosome 9 open reading frame 74 CEECAM1 9q34.13 cerebral endothelial cell adhesion molecule 1 LOC392394 9 similar to hypothetical protein ODF2 9q34 outer dense fiber of sperm tails 2 GLE1L 9q34.13 GLE1 RNA export mediator-like (yeast) SPTAN1 9q34.13 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) MGC20486 9q34.13 hypothetical protein MGC20486 SET 9q34 SET translocation (myeloid leukemia-associated) pknbeta 9q34.13 protein kinase PKNbeta ZDHHC12 9q34.2 zinc finger, DHHC domain containing 12 C9orf60 9q34.13 chromosome 9 open reading frame 60 TBC1D13 9q34.13 TBC1 domain family, member 13 ENDOG 9q34.1 endonuclease G HSPC109 9q34.13 hypothetical protein HSPC109 CCBL1 9q34.1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) LRRC8 9q34.2 leucine rich repeat containing 8 PHYHD1 9q34.13 phytanoyl-CoA dioxygenase domain containing 1 TMEM15 9q34.13 transmembrane protein 15 KIAA0169 9q34.13 transmembrane protein 15 SH3GLB2 9q34 SH3-domain GRB2-like endophilin B2 C9orf54 9q34.13 chromosome 9 open reading frame 54 DOLPP1 9q34.1 chromosome 9 open reading frame 54 CRAT 9q34.1 carnitine acetyltransferase PPP2R4 9q34.1 protein phosphatase 2A, regulatory subunit B' (PR 53) LOC389792 9 similar to RIKEN cDNA 2610524G09
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 polyA site 2863 33.5 290 - 2011 21515671
    8 polyA site 2936 32 277 - 2011 21515671
    - - 2562 - 266 - 2011 21515671
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemuterus  moderately
    Respiratorylung   moderately
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective   moderately
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in pharyngeal arch 1, embyonic tissue, umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • a central region involved in the binding of the globular part of histone H3
  • an extended highly acidic C terminal region, and the N-terminal dimerisation domain, as well as the H3 N-terminal tail, are dispensable for this interaction
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to yeast NAP-1(32kD)
    homolog to C.elegans C27b7.1
    homolog to rattus Set (97.63 pc)
    homolog to murine Set (98.42 pc)
    Homologene
    FAMILY nucleosome assembly family
    CATEGORY regulatory , DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,nucleus,nucleoplasm
    text
  • associated with the endoplasmic reticulum
  • localized throughout the nucleoplasm of interphase cells
  • basic FUNCTION
  • template activating factor I, beta isoform (DNA replication factor)
  • potent and specific inhibitor of protein phosphatase 2A (PPP2AC)
  • involved in DNA replication, in nuclear organization and biogenesis
  • histone chaperone involved in cell-cycle control and chromatin remodeling
  • regulates the CREBBP-mediated transcription
  • required for transcription of chromatin templates by RNA polymerase Pol II
  • with PARP1, may function by physically removing chromatin-bound DEK
  • negative regulator of neuronal development
  • plays a role in MCPH1-mediated chromosome condensation/decondensation
  • important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly
  • potent inhibitor of the protein phosphatase 2A (PP2A) tumor suppressor
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binds chromatin, dissociating DEK and PARP1 to allow transcription in the absence of NAD+
    RNA
    small molecule
    protein
  • binding specifically to mitotic cyclin B, MMG2, P35(NCK5A), P39(NCK5AI)
  • binding to TATA-box binding protein (TBP)
  • interacts directly with the acetyltransferase CREB-binding protein (CBP) and enhances the transactivation potential of the transcription coactivator
  • interacting wth DEK and PARP1 (constitute a network governing access to chromatin by the transcription machinery)
  • MCPH1-associated protein and an important negative regulator of chromosome condensation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SET
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    chimeric protein resulting from the fusion SET-CAN in the translocation t (6;9) in acute undifferentiated leukemia
    tumoral     --over  
    in Wilms tumor
    tumoral     --over  
    in B-cell chronic lymphocytic leukemia (CLL), correlated significantly with disease severity (shorter time to treatment and overall survival)
    tumoral fusion      
    SET-NUP214 in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    new treatment target in B-cell malignancies and SET antagonists represent novel agents for treatment of B-cell chronic lymphocytic leukemia b and non-Hodgkin lymphoma
    ANIMAL & CELL MODELS