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SET (SET translocation (myeloid leukemia-associated))

Identity

Other namesI2PP2A, I-2PP2A (Phosphatase 2A inhibitor)
TAF-IBETA (Template activating factor I)
PHAPII (HLA-DR associated protein II)
IGAAD (Inhibitor of granzyme A-activated Dnase)
HGNC (Hugo) SET
Location 9q34
Location_base_pair Starts at 130485755 and ends at 130498496 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order from centromere to telomere: SET, ABL1, NUP214 (alias CAN), NOTCH1 (alias TAN1)

DNA/RNA

Description SET encompasses 6.81 kb on the genomic DNA; 8 exons
Transcription 2577 bp mRNA

Protein

Description two isoforms; isoform 1 (TAF1 alpha) 290 amino acids, 33.5 kDa; isoform 2 (TAF1 beta) - 277 amino acids, 23.1 kDa
Expression widely expressed; highly expressed in Wilms' tumor
Localisation cytoplasmic and nuclear; in the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum
Function multitasking protein, involved in apoptosis, transcription, nucleosome assembly, and histone binding; potent inhibitor of protein phosphatase 2A; inhibits also EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) - predominantly H4 - and nucleosomes; HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA
Homology belongs to the nucleosome assembly protein (NAP) family

Implicated in

Entity t(9;9)(q34;q34) --> SET-NUP214 (alias CAN)
Disease acute undifferentiated leukemia (AUL); only one case described so far
Cytogenetics normal karyotype; may be overlooked
Hybrid/Mutated Gene 5' SET - 3' NUP214
Abnormal Protein the SET-NUP214 (alias CAN) fusion protein consists of almost the whole SET protein fused to the C-terminus of NUP214
Oncogenesis SET-NUP214 leads to disorganization of nuclear export
  

External links

Nomenclature
HGNC (Hugo)SET   10760
Entrez_Gene (NCBI)SET  6418  SET nuclear oncogene
Cards
AtlasSETID42272ch9q34
GeneCards (Weizmann)SET
Ensembl (Hinxton)ENSG00000119335 [Gene_View]  SET [Vega]
AceView (NCBI)SET
Genatlas (Paris)SET
euGene (Indiana)6418
SOURCE (Stanford)NM_001122821 NM_003011
Genomic and cartography
GoldenPath (UCSC)SET  -  9q34   chr9:130485755-130498496 +  9q34   [Description]    (hg18-Mar_2006)
EnsemblSET - 9q34 [CytoView]
Mapping of homologs : NCBISET [Mapview]
OMIM600960   
Gene and transcription
Gene : Genbank (Entrez)AK223556 AK300609 AK300794 AK311346 AK315313
Reference sequence (RefSeq transcript) :SRSNM_001122821 NM_003011
Reference transcript : EntrezNM_001122821 NM_003011
RefSeq genomic : SRSAC_000052 AC_000141 NC_000009 NT_008470 NW_001839239 NW_924573
RefSeq genomic : EntrezAC_000052 AC_000141 NC_000009 NT_008470 NW_001839239 NW_924573
Consensus coding sequences : CCDS NCBISET
Cluster EST : UnigeneHs.609454 [ SRS ] Hs.609454 [ NCBI ]
Alternative Splicing : Fast-db (Paris)16013
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ01105 (SRS) Q01105 (Expasy) Q01105 (Uniprot)
With graphics : InterProQ01105
Splice isoforms : VarSplice FASTAQ01105(VarSplice FASTA)
Domains : Interpro (SRS)NAP_family   
Domains : Interpro (EBI)NAP_family   
Related proteins : CluSTrQ01105
Domain families : Pfam SRSNAP (PF00956)   
Domain families : Pfam SangerNAP (PF00956)   
Domain families : Pfam NCBIpfam00956   
Blocks (Seattle)Q01105
Crystal structure of protein : PDB SRS2.00E+50   
Crystal structure of protein : PDBSum2.00E+50   
Crystal structure of protein : IMB2.00E+50   
Crystal structure of protein : PDB RSDB2.00E+50   
HPRD09023
Protein Interaction databases
DIP (DOE-UCLA)Q01105
IntAct (EBI)Q01105
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISET
SNP : GeneSNP UtahSET
SNP : HGBaseSET
Genetic variants : HAPMAPSET
Somatic Mutations in Cancer : COSMICSET 
Translocation Breakpoints in Cancer : TICdbSET 
Mutations and Diseases : HGMDSET
Hereditary diseases : OMIM600960   
Hereditary diseases : GENETests600960   
Diseases : Genetic AssociationSET
General knowledge
Homologs : HomoloGeneSET
Homology/Alignments : Family Browser UCSCSET
Phylogenetic Trees/Animal Genes : TreeFamSET
Chemical/Protein Interactions : CTD6418
Keywords Ontology : AmiGOphosphoprotein phosphatase inhibitor activity  nucleus  cytoplasm  endoplasmic reticulum  DNA replication  nucleosome assembly  nucleosome disassembly  nucleocytoplasmic transport  protein phosphatase type 2A regulator activity  negative regulation of histone acetylation  histone binding  perinuclear region of cytoplasm  
Keywords Ontology : EGO-EBIphosphoprotein phosphatase inhibitor activity  nucleus  cytoplasm  endoplasmic reticulum  DNA replication  nucleosome assembly  nucleosome disassembly  nucleocytoplasmic transport  protein phosphatase type 2A regulator activity  negative regulation of histone acetylation  histone binding  perinuclear region of cytoplasm  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSET Related clones (RZPD - Berlin)
Literature
PubMed64 Pubmed reference(s) in Entrez
PubGeneSET

Bibliography

Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.
von Lindern M, van Baal S, Wiegant J, Raap A, Hagemeijer A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (8) : 3346-3355.
PMID 1630450
 
Identification of in vivo phosphorylation sites of SET, a nuclear phosphoprotein encoded by the translocation breakpoint in acute undifferentiated leukemia.
Adachi Y, Pavlakis GN, Copeland TD
FEBS letters. 1994 ; 340 (3) : 231-235.
PMID 8131851
 
Identification and characterization of SET, a nuclear phosphoprotein encoded by the translocation break point in acute undifferentiated leukemia.
Adachi Y, Pavlakis GN, Copeland TD
The Journal of biological chemistry. 1994 ; 269 (3) : 2258-2262.
PMID 8294483
 
Replication factor encoded by a putative oncogene, set, associated with myeloid leukemogenesis.
Nagata K, Kawase H, Handa H, Yano K, Yamasaki M, Ishimi Y, Okuda A, Kikuchi A, Matsumoto K
Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (10) : 4279-4283.
PMID 7753797
 
The myeloid leukemia-associated protein SET is a potent inhibitor of protein phosphatase 2A.
Li M, Makkinje A, Damuni Z
The Journal of biological chemistry. 1996 ; 271 (19) : 11059-11062.
PMID 8626647
 
Expression of SET, an inhibitor of protein phosphatase 2A, in renal development and Wilms' tumor.
Carlson SG, Eng E, Kim EG, Perlman EJ, Copeland TD, Ballermann BJ
Journal of the American Society of Nephrology : JASN. 1998 ; 9 (10) : 1873-1880.
PMID 9773788
 
HMG2 interacts with the nucleosome assembly protein SET and is a target of the cytotoxic T-lymphocyte protease granzyme A.
Fan Z, Beresford PJ, Zhang D, Lieberman J
Molecular and cellular biology. 2002 ; 22 (8) : 2810-2820.
PMID 11909973
 
Tumor suppressor NM23-H1 is a granzyme A-activated DNase during CTL-mediated apoptosis, and the nucleosome assembly protein SET is its inhibitor.
Fan Z, Beresford PJ, Oh DY, Zhang D, Lieberman J
Cell. 2003 ; 112 (5) : 659-672.
PMID 12628186
 
Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937.
Kandilci A, Mientjes E, Grosveld G
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (2) : 337-340.
PMID 14671643
 
Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.
Saito S, Miyaji-Yamaguchi M, Nagata K
International journal of cancer. Journal international du cancer. 2004 ; 111 (4) : 501-507.
PMID 15239126
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2005Sabine Strehl

Citation

This paper should be referenced as such :
Strehl S . SET (SET translocation (myeloid leukemia-associated)). Atlas Genet Cytogenet Oncol Haematol. August 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/SETID42272ch9q34.html

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