Gene content    
SETDB1 ( by HUGO)
SET Domain, Bifurcated 1
Other
SET Domain
Bifurcated 1
Tudor Domain Containing 21
Histone H3-K9 Methyltransferase 4
Lysine N-Methyltransferase 1E
ESET
KMT1E
ERG-Associated Protein With SET Domain
H3-K9-HMTase 4
EC 2.1.1.43
H3-K9-HMTase4
KG1T
TDRD21
ERG-Associated Protein With A SET Domain
ESET
Histone-Lysine N-Methyltransferase SETDB1
Histone-Lysine N-Methyltransferase
H3lysine-9 Specific 4
KIAA0067
SET Domain Bifurcated 1
NCBI: 1q21    Ensembl: 1q21.3
SETB1_HUMANSize: 1291 amino acidsMass: 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. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2 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 [IMAGE] and Proteopedia [IMAGE] for SETDB1: 3DLM (3D) [IMAGE]
  • Tissue specificity: Widely expressed. High expression in testis [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including SETDB1: Epigenetic Chromatin Modification Enzymes in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template standards f
  • 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
                          
    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]
  • Similarity:
    Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily
                          
    Contains 1 MBD (methyl-CpG-binding) domain
                          
    Contains 1 post-SET domain
                          
    Contains 1 pre-SET domain
                          
    Contains 1 SET domain
                          
    C
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001214SET_domNuclear protein SETDomain
    IPR001739Methyl_CpG_DNA-bdMethyl-CpG bindingDomain
    IPR002999TudorTudorDomain
    IPR003606Pre-SET_Zn-bd_subNuclear protein Zn2+-bindingDomain
    IPR003616Post-SET_domSET-related regionDomain
    IPR007728Pre-SET_domPre-SETDomain
    BlocksIPB001214Nuclear protein SETNuclear protein SET
    IPB001739Methyl-CpG bindingMethyl-CpG binding
    IPB002999Tudor domainTudor domain
    IPB003606Nuclear protein Zn2+-bindingNuclear protein Zn2+-binding
    IPB003606Nuclear protein Zn2+-binding IPB003616 SET-related regionNuclear protein Zn2+-binding

    Gene Ontology    
    Type Term Evidence Source Pub
    Molecular Function protein binding IPI GOA 16682412

    SETDB1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene