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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SETDB1 Gene

protein-coding   GIFtS: 64
GCID: GC01P150898

SET Domain, Bifurcated 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SET Domain, Bifurcated 11 2     H3-K9-HMTase42
Tudor Domain Containing 211 2     KG1T2
Histone H3-K9 Methyltransferase 42 3     TDRD212
Lysine N-Methyltransferase 1E2 3     ERG-Associated Protein With A SET Domain, ESET2
ESET2 3     Histone-Lysine N-Methyltransferase SETDB12
KMT1E2 3     Histone-Lysine N-Methyltransferase, H3lysine-9 Specific 42
ERG-Associated Protein With SET Domain2 3     KIAA00673
H3-K9-HMTase 42 3     SET Domain Bifurcated 13
EC 2.1.1.433 8     

External Ids:    HGNC: 107611   Entrez Gene: 98692   Ensembl: ENSG000001433797   OMIM: 6043965   UniProtKB: Q150473   

Export aliases for SETDB1 gene to outside databases

Previous GC identifers: GC01P148740 GC01P146646 GC01P147673 GC01P148115 GC01P147711 GC01P149165 GC01P122275


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SETDB1 Gene:
This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and
transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given
that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively
spliced transcript variants of this gene have been described.(provided by RefSeq, Jun 2011)

GeneCards Summary for SETDB1 Gene: 
SETDB1 (SET domain, bifurcated 1) is a protein-coding gene. Diseases associated with SETDB1 include yaws, and huntington's disease, and among its related super-pathways are Signal transduction Activin A signaling regulation. GO annotations related to this gene include DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is SETDB2.

UniProtKB/Swiss-Prot: SETB1_HUMAN, Q15047
Function: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9'
trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3
and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central
role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation.
Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and
histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA
replication by being recruited by CAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by
KRAB zinc-finger proteins

Gene Wiki entry for SETDB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SETDB1 gene promoter:
         Sp1   Lmo2   Cdc5   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETDB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SETDB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETDB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

SETDB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETDB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P150898:  view genomic region     (about GC identifiers)

Start:
150,898,739 bp from pter      End:
150,937,220 bp from pter
Size:
38,482 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SETB1_HUMAN, Q15047 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase SETDB1  
Size: 1291 amino acids; 143157 Da
Subunit: Interacts with MBD1; interaction is abolished when MBD1 is sumoylated. Interacts with ATF7IP and ATF7IP2;
the interaction with ATF7IP is required to stimulate histone methyltransferase activity and facilitate the
conversion of dimethylated to trimethylated H3 'Lys-9'. During DNA replication, it is recruited by SETDB1 to form
a S phase-specific complex that facilitates methylation of H3 'Lys-9' during replication-coupled chromatin
assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1. Interacts with ERG, TRIM28/TIF1B,
CBX1, CBX5, CHD7, DNMT3A, HDAC1, HDAC2, NLK, PPARG, SIN3A, SIN3B, DNMT3B and SUMO2. Interacts with MPHOSPH8
Subcellular location: Nucleus. Chromosome. Note=Associated with non-pericentromeric regions of chromatin. Excluded
from nucleoli and islands of condensed chromatin
Miscellaneous: Highly up-regulated in Huntington disease patients, suggesting that participates in the altered
chromatin modulation and transcription dysfunction observed in Huntington disease. Its down-regulation has
salubrious effects on patients, suggesting that it may be a promising treatment in Huntington disease patients
Sequence caution: Sequence=BAA06689.2; Type=Erroneous initiation; Sequence=CAI13325.1; Type=Erroneous gene model
prediction; Sequence=CAI13326.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for SETDB1:
3DLM (3D)    
Secondary accessions: A6NEW2 Q5SZD8 Q5SZD9 Q5SZE0 Q5SZE7 Q96GM9
Alternative splicing: 3 isoforms:  Q15047-1   Q15047-2   Q15047-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETDB1: NX_Q15047

Explore proteomics data for SETDB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15047

  • 4/13 DME Specific Peptides for SETDB1 (Q15047) (see all 13)
     DKSKCAC  NHSCSPN  EWIYRGS  LSCVNEID 

    SETDB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SETDB1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138887.1  NP_001230420.1  NP_036564.3  

    ENSEMBL proteins: 
     ENSP00000435922   ENSP00000271640   ENSP00000409379   ENSP00000357958   ENSP00000436148  
     ENSP00000357965   ENSP00000357959   ENSP00000432348   ENSP00000357960   ENSP00000407831  

    Human Recombinant Protein Products for SETDB1: 
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    Novus Biologicals SETDB1 Proteins
    Novus Biologicals SETDB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETDB1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    SETDB1 for ontologies           About GeneDecksing



    SETDB1 Antibody Products: 
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    Novus Biologicals SETDB1 Antibodies
    Abcam antibodies for SETDB1
    Cloud-Clone Corp. Antibodies for SETDB1 
    ThermoFisher Antibodies for SETDB1
    LSBio Antibodies in human, mouse, rat for SETDB1 

    Assay Products for SETDB1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SETDB1 
    Cloud-Clone Corp. CLIAs for SETDB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    TDRD: Tudor domain containing

    5/8 InterPro protein domains (see all 8):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR025796 Hist-Lys_N-MeTrfase_SETDB1
     IPR016177 DNA-bd_integrase-typ
     IPR003606 Pre-SET_Zn-bd_sub

    Graphical View of Domain Structure for InterPro Entry Q15047

    ProtoNet protein and cluster: Q15047

    5 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB001739 Methyl-CpG binding
    IPB002999 Tudor domain
    IPB003606 Nuclear protein Zn2+-binding
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: SETB1_HUMAN, Q15047
    Domain: The pre-SET, SET and post-SET domains are all required for methyltransferase activity. The 347-amino-acid
    insertion in the SET domain has no effect on the catalytic activity
    Domain: Isoform 2 lacks all domains required for histone methyltransferase activity
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. Suvar3-9 subfamily
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain
    Similarity: Contains 2 Tudor domains


    SETDB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SETB1_HUMAN, Q15047
    Function: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9'
    trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3
    and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central
    role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation.
    Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and
    histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA
    replication by being recruited by CAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by
    KRAB zinc-finger proteins
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Genatlas biochemistry entry for SETDB1:
    protein with an unusual bifurcated SET domain protein 1

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI16682412
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IEA--
         
    SETDB1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Setdb1):
     cellular  embryogenesis  hematopoietic system  immune system  mortality/aging 
     nervous system  normal  skeleton 

    SETDB1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SETDB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SETDB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETDB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SETDB1 

    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate SETDB1 (see all 13):
    hsa-miR-498 hsa-miR-3130-5p hsa-miR-4324 hsa-miR-29a hsa-miR-29c hsa-miR-621 hsa-miR-3139 hsa-miR-708
    SwitchGear 3'UTR luciferase reporter plasmidSETDB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SETDB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signal transduction Activin A signaling regulation
    Histone modification0.31
    2Noncanonical Wnt signaling pathway
    Noncanonical Wnt signaling pathway
    3Lysine degradation
    Lysine degradation
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SETDB1
        Histone modification


    1 Cell Signaling Technology (CST) Pathway for SETDB1
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for SETDB1
        Noncanonical Wnt signaling pathway


    1         Kegg Pathway  (Kegg details for SETDB1):
        Lysine degradation


    SETDB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETDB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/213 Interacting proteins for SETDB1 (Q150471, 2, 3 ENSP000003579654) via UniProtKB, MINT, STRING, and/or I2D (see all 213)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3BP684312, 3MINT-7221095 I2D: score=2 
    HIST1H3CP684312, 3MINT-7221095 I2D: score=2 
    HIST1H3DP684312, 3MINT-7221095 I2D: score=2 
    HIST1H3EP684312, 3MINT-7221095 I2D: score=2 
    HIST1H3FP684312, 3MINT-7221095 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0034968histone lysine methylation ----
    GO:0060348bone development IEA--

    SETDB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for SETDB1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SETDB1 (SETB1)

    3 HMDB Compounds for SETDB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    Search CenterWatch for drugs/clinical trials and news about SETDB1 / SETB1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SETDB1 gene (3 alternative transcripts): 
    NM_001145415.1  NM_001243491.1  NM_012432.3  

    Unigene Cluster for SETDB1:

    SET domain, bifurcated 1
    Hs.643565  [show with all ESTs]
    Unigene Representative Sequence: NM_001145415
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525956 ENST00000487584 ENST00000463774 ENST00000271640(uc009wmf.2 uc001evv.2 uc001evu.2)
    ENST00000448029 ENST00000368962(uc001evw.4) ENST00000534805 ENST00000368969
    ENST00000368963 ENST00000459773 ENST00000498193(uc009wmg.2) ENST00000368964
    ENST00000423081 ENST00000481219 ENST00000497314 ENST00000528749 ENST00000533529

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK308335.1 BC009362.2 BC028671.2 D31891.1 

    22 DOTS entries:

    DT.313478  DT.100792734  DT.91752091  DT.99972291  DT.100792736  DT.97859023  DT.100792735  DT.121452959 
    DT.100792739  DT.313480  DT.91659902  DT.97780296  DT.121453028  DT.91844257  DT.102841839  DT.121452951 
    DT.91686941  DT.95181462  DT.95206841  DT.97859022  DT.87002754  DT.95085160 

    24/176 AceView cDNA sequences (see all 176):

    BG057891 BQ055551 BE274369 AW148524 BQ935376 CN481814 BU624516 CB268330 
    D31891 CB155911 AI886301 CB149707 BE727922 NM_012432 AL039272 AL704885 
    BM787073 AI797660 BC028671 BM784751 BM785063 CB270416 AA744245 BM827499 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SETDB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTTCGCTT
    SETDB1 Expression
    About this image


    See SETDB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETDB1

    SOURCE GeneReport for Unigene cluster: Hs.643565

    UniProtKB/Swiss-Prot: SETB1_HUMAN, Q15047
    Tissue specificity: Widely expressed. High expression in testis

        SABiosciences Expression via Pathway-Focused PCR Array including SETDB1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SETDB1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setdb11 , 5 SET domain, bifurcated 11, 5 89.21(n)1
    92.47(a)1
      3 (40.74 cM)5
    845051  NM_001163642.11  NP_001157114.11 
     953235255 
    chicken
    (Gallus gallus)
    Aves SETDB11 SET domain, bifurcated 1 71.4(n)
    78.8(a)
      395847  XM_423391.3  XP_423391.3 
    lizard
    (Anolis carolinensis)
    Reptilia SETDB16
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343893.1(58321-124103)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168482 Xenopus laevis transcribed sequence with weak similarity more 76.95(n)    48054231 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa04a122 wufa04a12 82.65(n)   334802  AA495195.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304263   -- 44(a)
    (best of 2)
      60E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea met-26
    Protein MET-2
    15(a)
    1 → many
    III(8375298-8380849)


    ENSEMBL Gene Tree for SETDB1 (if available)
    TreeFam Gene Tree for SETDB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SETDB1 gene
    SETDB22  

    SETDB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/911 SNPs in SETDB1 are shown (see all 911)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414585811,2
    --150896926(+) CTCACG/TCCTGT 3 -- us2k10--------
    rs1885225211,2
    --150896973(+) ATCACC/TTGAGG 3 -- us2k10--------
    rs115898861,2
    C,F,A,H--150897025(+) gtctcC/Taccaa 3 -- us2k15Minor allele frequency- T:0.50NA CSA 10
    rs1398372191,2
    C--150897159(+) GCACTA/CCAGCT 3 -- us2k10--------
    rs360397001,2
    C--150897173(+) GTGAC-/AAGAGCG 3 -- us2k11Minor allele frequency- AA:0.00NA 2
    rs1931048371,2
    --150897271(+) GGAGGC/TCGAGG 3 -- us2k10--------
    rs727046791,2
    C--150897477(+) CGAAAT/CGCCTT 3 -- us2k17Minor allele frequency- C:0.49WA NA CSA EA 365
    rs1857347931,2
    --150897658(+) GCCTCC/TGCCAC 3 -- us2k10--------
    rs727046821,2
    C--150897677(+) AAGCGA/TTCCTC 3 -- us2k15Minor allele frequency- T:0.39NA CSA WA EA 361
    rs727046851,2
    C--150897687(+) CCCCCC/GGCCTC 3 -- us2k15Minor allele frequency- G:0.38NA CSA WA EA 362

    HapMap Linkage Disequilibrium report for SETDB1 (150898739 - 150937220 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SETDB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2661989CNV Deletion23128226
    nsv522317CNV Loss19592680
    nsv522840CNV Gain19592680


    Human Gene Mutation Database (HGMD): SETDB1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604396    OMIM disorders: --

    6 diseases for SETDB1:    About MalaCards
    yaws    huntington's disease    kidney disease    melanoma
    breast cancer    leukemia


    SETDB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SETDB1
    Human Genome Epidemiology (HuGE) Navigator: SETDB1 (1 document)

    Export disorders for SETDB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SETDB1 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with SETDB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells. (PubMed id 16682412)1, 2, 9 Li H.... Pfeifer G.P. (2006)
    2. SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins. (PubMed id 11959841)1, 2, 9 Schultz D.C.... Rauscher F.J. III (2002)
    3. ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease. (PubMed id 17142323)1, 2, 9 Ryu H.... Ferrante R.J. (2006)
    4. Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins. (PubMed id 15691849)1, 2, 9 Ichimura T.... Nakao M. (2005)
    5. A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation. (PubMed id 17952062)1, 2, 9 Takada I....Kato S. (2007)
    6. Regulated recruitment of HP1 to a euchromatic gene induces mitotically heritable, epigenetic gene silencing: a mammalian cell culture model of gene variegation. (PubMed id 12869583)1, 2, 9 Ayyanathan K.... Rauscher F.J. III (2003)
    7. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)1, 4 Mavaddat N....Pharoah P.D. (2009)
    8. Regulation of MBD1-mediated transcriptional repression by SUMO and PIAS proteins. (PubMed id 17066076)1, 2 Lyst M.J.... Stancheva I. (2006)
    9. NXP-2 association with SUMO-2 depends on lysines required for transcriptional repression. (PubMed id 16567619)1, 2 Rosendorff A.... Gill G. (2006)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9869 HGNC: 10761 AceView: SETDB1 Ensembl:ENSG00000143379 euGenes: HUgn9869
    ECgene: SETDB1 Kegg: 9869 H-InvDB: SETDB1

    (According to HUGE)
    About This Section
    HUGE: KIAA0067

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SETDB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SETDB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SETDB1 gene:
    Search GeneIP for patents involving SETDB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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