SET (SET translocation (myeloid leukemia-associated))

Identity

Other names	I2PP2A, 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	SET
Location	9q34
Location_base_pair	Starts at 130485755 and ends at 130498496 bp from pter (hg18-Mar_2006).
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	SET   10760
Entrez_Gene	SET  6418  SET nuclear oncogene
	Cards
Atlas	SETID42272ch9q34
GeneCards	SET
Ensembl	SET [Search_View]   ENSG00000119335 [Gene_View]
Genatlas	SET
GeneLynx	SET
eGenome	SET
euGene	6418
	Genomic and cartography
GoldenPath	SET  -  9q34   chr9:130485755-130498496 +  9q34   [Description]    (hg18-Mar_2006)
Ensembl	SET - 9q34 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SET
	Gene and transcription
Genbank	AK223556 [ ENTREZ ]
Genbank	AK300794 [ ENTREZ ]
Genbank	AK311346 [ ENTREZ ]
Genbank	AK315313 [ ENTREZ ]
Genbank	AM392720 [ ENTREZ ]
RefSeq	NM_001122821 [ SRS ]    NM_001122821 [ ENTREZ ]
RefSeq	NM_003011 [ SRS ]    NM_003011 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	AC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_008470 [ SRS ]    NT_008470 [ ENTREZ ]
RefSeq	NW_001839239 [ SRS ]    NW_001839239 [ ENTREZ ]
RefSeq	NW_924573 [ SRS ]    NW_924573 [ ENTREZ ]
AceView	SET AceView - NCBI
Unigene	Hs.609454 [ SRS ]    Hs.609454 [ NCBI ]     HS609454 [ spliceNest ]
Fast-db	16013 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q01105 [ SRS]    Q01105 [ EXPASY ]     Q01105 [ INTERPRO ]     Q01105 [ UNIPROT ]
Interpro	IPR002164 NAP_family [ SRS ]    IPR002164 NAP_family [ EBI ]
CluSTr	Q01105
Pfam	PF00956 NAP [ SRS ]    PF00956 NAP [ Sanger ]    pfam00956 [ NCBI-CDD ]
Blocks	Q01105
PDB	2,00E+50 [ SRS ]    2,00E+50 [ PdbSum ],   2,00E+50 [ IMB ]   2,00E+50 [ RSDB ]
HPRD	09023
	Protein Interaction databases
DIP	Q01105
IntAct	Q01105
	Polymorphism : SNP, mutations, diseases
OMIM	600960    [ map ]
GENECLINICS	600960
SNP	SET [dbSNP-NCBI]
SNP	NM_001122821 [SNP-NCI]
SNP	NM_003011 [SNP-NCI]
SNP	SET [GeneSNPs - Utah]  SET] [HGBASE - SRS]
HAPMAP	SET [HAPMAP]
COSMIC	SET [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	SET [Translocation breakpoints In Cancer]
HGMD	SET
	General knowledge
Family Browser	SET [UCSC Family Browser]
SOURCE	NM_001122821
SOURCE	NM_003011
SMD	Hs.609454
SAGE	Hs.609454
GO	protein phosphatase inhibitor activity [Amigo]  protein phosphatase inhibitor activity
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	endoplasmic reticulum [Amigo]  endoplasmic reticulum
GO	DNA replication [Amigo]  DNA replication
GO	nucleosome assembly [Amigo]  nucleosome assembly
GO	nucleosome assembly [Amigo]  nucleosome assembly
GO	nucleosome disassembly [Amigo]  nucleosome disassembly
GO	nucleocytoplasmic transport [Amigo]  nucleocytoplasmic transport
GO	protein phosphatase type 2A regulator activity [Amigo]  protein phosphatase type 2A regulator activity
GO	negative regulation of histone acetylation [Amigo]  negative regulation of histone acetylation
GO	histone binding [Amigo]  histone binding
GO	perinuclear region of cytoplasm [Amigo]  perinuclear region of cytoplasm
BIOCARTA	Granzyme A mediated Apoptosis Pathway    [Genes]
PubGene	SET
TreeFam	SET
CTD	6418 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SET Related clones (RZPD - Berlin)
	PubMed
PubMed	62 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	08-2005	Sabine 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 11 12:57:03 2008