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Aliases for SET Gene

Aliases for SET Gene

  • SET Nuclear Proto-Oncogene 2 3 5
  • SET Translocation (Myeloid Leukemia-Associated) 2 3
  • Inhibitor Of Granzyme A-Activated DNase 3 4
  • Protein Phosphatase Type 2A Inhibitor 2 3
  • Phosphatase 2A Inhibitor I2PP2A 3 4
  • HLA-DR-Associated Protein II 3 4
  • PHAPII 3 4
  • IGAAD 3 4
  • TAF-I 3 4
  • Template-Activating Factor-I, Chromatin Remodelling Factor 3
  • Inhibitor-2 Of Protein Phosphatase-2A 3
  • Template-Activating Factor-I 2
  • Chromatin Remodelling Factor 2
  • Template-Activating Factor I 4
  • SET Nuclear Oncogene 3
  • TAF-IBETA 3
  • I-2PP2A 4
  • I2PP2A 3
  • IPP2A2 3
  • 2PP2A 3

External Ids for SET Gene

Previous GeneCards Identifiers for SET Gene

  • GC09P122566
  • GC09P123092
  • GC09P124900
  • GC09P126822
  • GC09P128525
  • GC09P130485
  • GC09P131445
  • GC09P101055

Summaries for SET Gene

Entrez Gene Summary for SET Gene

  • The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for SET Gene

SET (SET Nuclear Proto-Oncogene) is a Protein Coding gene. Diseases associated with SET include Acute Leukemia Of Ambiguous Lineage and Hypervitaminosis A. Among its related pathways are Gene Expression and Granzyme Pathway. GO annotations related to this gene include histone binding and protein phosphatase type 2A regulator activity. An important paralog of this gene is TSPY4.

UniProtKB/Swiss-Prot for SET Gene

  • Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.

Gene Wiki entry for SET Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SET Gene

Genomics for SET Gene

Regulatory Elements for SET Gene

Enhancers for SET Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SET on UCSC Golden Path with GeneCards custom track

Genomic Location for SET Gene

Chromosome:
9
Start:
128,683,424 bp from pter
End:
128,696,400 bp from pter
Size:
12,977 bases
Orientation:
Plus strand

Genomic View for SET Gene

Genes around SET on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SET Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SET Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SET Gene

Proteins for SET Gene

  • Protein details for SET Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01105-SET_HUMAN
    Recommended name:
    Protein SET
    Protein Accession:
    Q01105
    Secondary Accessions:
    • A5A5H4
    • A6NGV1
    • B4DUE2
    • Q15541
    • Q5VXV1
    • Q5VXV2
    • Q6FHZ5

    Protein attributes for SET Gene

    Size:
    290 amino acids
    Molecular mass:
    33489 Da
    Quaternary structure:
    • Headphone-shaped homodimer. Isoforms 1 and 2 interact directly with each other and with ANP32A within the tripartite INHAT (inhibitor of acetyltransferases) complex. Isoform 1 and isoform 2 interact also with histones. Isoform 2 is a component of the SET complex, composed of at least ANP32A, APEX1, HMGB2, NME1, SET and TREX1, but not NME2 or TREX2. Within this complex, directly interacts with ANP32A, NME1, HMGB2 and TREX1; the interaction with ANP32A is enhanced after cleavage. Interacts with APBB1, CHTOP, SETBP1, SGOL1. Interacts with herpes simplex virus 1 VP22.

    Three dimensional structures from OCA and Proteopedia for SET Gene

    Alternative splice isoforms for SET Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SET Gene

Proteomics data for SET Gene at MOPED

Post-translational modifications for SET Gene

  • Isoform 2 is acetylated on Lys-11.
  • Isoform 2 is cleaved after Lys-176 by GZMA. The cleavage inhibits its nucelosome assembly activity and disrupts the inhibition on NME1.
  • Isoform 2 is phosphorylated on Ser-15 and Thr-23.
  • N-terminus of isoform 1 is methylated by METTL11A/NTM1. Mainly trimethylated (By similarity).
  • Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group (By similarity).
  • Ubiquitination at Lys 150, Lys 154, and Lys 172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SET Gene

Domains & Families for SET Gene

Protein Domains for SET Gene

Graphical View of Domain Structure for InterPro Entry

Q01105

UniProtKB/Swiss-Prot:

SET_HUMAN :
  • A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.
  • Belongs to the nucleosome assembly protein (NAP) family.
Domain:
  • A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.
Family:
  • Belongs to the nucleosome assembly protein (NAP) family.
genes like me logo Genes that share domains with SET: view

No data available for Gene Families for SET Gene

Function for SET Gene

Molecular function for SET Gene

UniProtKB/Swiss-Prot Function:
Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.
genes like me logo Genes that share phenotypes with SET: view

Animal Model Products

miRNA for SET Gene

miRTarBase miRNAs that target SET

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SET Gene

Localization for SET Gene

Subcellular locations from UniProtKB/Swiss-Prot for SET Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Nucleus, nucleoplasm. Note=In the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum. The SET complex is associated with the endoplasmic reticulum. Following CTL attack and cleavage by GZMA, moves rapidly to the nucleus, where it is found in the nucleoplasm, avoiding the nucleolus. Similar translocation to the nucleus is also observed for lymphocyte-activated killer cells after the addition of calcium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SET Gene COMPARTMENTS Subcellular localization image for SET gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11909973
GO:0048471 perinuclear region of cytoplasm IDA 11555662
genes like me logo Genes that share ontologies with SET: view

Pathways & Interactions for SET Gene

genes like me logo Genes that share pathways with SET: view

SIGNOR curated interactions for SET Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS 7753797
GO:0006337 nucleosome disassembly TAS 11555662
GO:0016032 viral process IEA --
GO:0034047 regulation of protein phosphatase type 2A activity TAS 11555662
GO:0043086 negative regulation of catalytic activity TAS 8626647
genes like me logo Genes that share ontologies with SET: view

Drugs & Compounds for SET Gene

(6) Drugs for SET Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anesthetics Pharma 8255
calcium Nutra 0
genes like me logo Genes that share compounds with SET: view

Transcripts for SET Gene

Unigene Clusters for SET Gene

SET nuclear oncogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SET Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6:
SP7:

Relevant External Links for SET Gene

GeneLoc Exon Structure for
SET
ECgene alternative splicing isoforms for
SET

Expression for SET Gene

mRNA expression in normal human tissues for SET Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SET Gene



SOURCE GeneReport for Unigene cluster for SET Gene Hs.436687

mRNA Expression by UniProt/SwissProt for SET Gene

Q01105-SET_HUMAN
Tissue specificity: Widely expressed. Low levels in quiescent cells during serum starvation, contact inhibition or differentiation. Highly expressed in Wilms tumor.
genes like me logo Genes that share expression patterns with SET: view

Protein tissue co-expression partners for SET Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for SET Gene

Orthologs for SET Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SET Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SET 35
  • 95.67 (n)
  • 99.64 (a)
-- 36
  • 86 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
SET 36
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SET 35
  • 96.44 (n)
  • 100 (a)
-- 36
  • 45 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Set 35
  • 93.81 (n)
  • 98.42 (a)
Set 16
Set 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SET 35
  • 99.74 (n)
  • 100 (a)
SET 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Set 35
  • 94.83 (n)
  • 98.5 (a)
oppossum
(Monodelphis domestica)
Mammalia SET 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SET 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SET 35
  • 90.97 (n)
  • 100 (a)
SET 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SET 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia set 35
  • 84.6 (n)
  • 98.65 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.28239 35
setb 35
  • 81.02 (n)
  • 95.96 (a)
seta 36
  • 83 (a)
OneToMany
setb 36
  • 87 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9243 35
fruit fly
(Drosophila melanogaster)
Insecta Set 37
  • 65 (a)
Set 35
  • 60.8 (n)
  • 63.43 (a)
Set 36
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003598 35
  • 59.18 (n)
  • 60.71 (a)
worm
(Caenorhabditis elegans)
Secernentea spr-2 37
  • 39 (a)
spr-2 35
  • 52.72 (n)
  • 44.57 (a)
spr-2 36
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NRP1 35
  • 56.91 (n)
  • 45.74 (a)
rice
(Oryza sativa)
Liliopsida Os02g0576700 35
  • 56.81 (n)
  • 44.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3127 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4858 36
  • 63 (a)
OneToOne
Species with no ortholog for SET:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SET Gene

ENSEMBL:
Gene Tree for SET (if available)
TreeFam:
Gene Tree for SET (if available)

Paralogs for SET Gene

(12) SIMAP similar genes for SET Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SET: view

Variants for SET Gene

Sequence variations from dbSNP and Humsavar for SET Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1061240 -- 128,694,976(+) CCCTT(C/T)GCTCT utr-variant-3-prime
rs1141138 -- 128,689,593(+) GGCGC(A/C)GGCGG intron-variant, upstream-variant-2KB, reference, missense
rs1141306 -- 128,695,960(+) TGGCT(A/C)TATAA utr-variant-3-prime
rs113331608 -- 128,688,048(+) TCTAC(C/T)AAAAA intron-variant, upstream-variant-2KB
rs113396142 -- 128,688,103(+) CTACT(C/T)GGGAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SET Gene

Variant ID Type Subtype PubMed ID
nsv825097 CNV Loss 20364138
dgv1237n67 CNV Gain 20364138
nsv893900 CNV Loss 21882294
nsv482132 CNV Gain 20164927
nsv825106 CNV Gain 20364138
esv27225 CNV Loss 19812545

Variation tolerance for SET Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SET Gene

Human Gene Mutation Database (HGMD)
SET

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SET Gene

Disorders for SET Gene

MalaCards: The human disease database

(2) MalaCards diseases for SET Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
acute leukemia of ambiguous lineage
  • acute biphenotypic leukemia
hypervitaminosis a
- elite association - COSMIC cancer census association via MalaCards
Search SET in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SET_HUMAN
  • Note=A chromosomal aberration involving SET is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with NUP214/CAN.

Genatlas disease for SET Gene

acute undifferentiated leukemia (AUL);see also CAN

Relevant External Links for SET

Genetic Association Database (GAD)
SET
Human Genome Epidemiology (HuGE) Navigator
SET
Tumor Gene Database (TGDB):
SET
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SET
genes like me logo Genes that share disorders with SET: view

Publications for SET Gene

  1. The myeloid leukemia-associated protein SET is a potent inhibitor of protein phosphatase 2A. (PMID: 8626647) Li M. … Damuni Z. (J. Biol. Chem. 1996) 2 3 4 67
  2. Granzyme K displays highly restricted substrate specificity that only partially overlaps with granzyme A. (PMID: 19059912) Bovenschen N. … Kummer J.A. (J. Biol. Chem. 2009) 3 23
  3. SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines. (PMID: 19166587) Quentmeier H. … Drexler H.G. (J Hematol Oncol 2009) 3 23
  4. Jak2 inhibition deactivates Lyn kinase through the SET-PP2A-SHP1 pathway, causing apoptosis in drug-resistant cells from chronic myelogenous leukemia patients. (PMID: 19234487) Samanta A.K. … Arlinghaus R.B. (Oncogene 2009) 3 23
  5. Sp1-mediated transcription regulation of TAF-Ialpha gene encoding a histone chaperone. (PMID: 18809386) Asaka M.N. … Nagata K. (Biochem. Biophys. Res. Commun. 2008) 3 23

Products for SET Gene

Sources for SET Gene

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