Homo sapiens Protein: SETDB1
Summary
InnateDB Protein IDBP-102214.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SETDB1
Protein Name SET domain, bifurcated 1
Synonyms ESET; H3-K9-HMTase4; KG1T; KMT1E; TDRD21;
Species Homo sapiens
Ensembl Protein ENSP00000271640
InnateDB Gene IDBG-102210 (SETDB1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:12869583, ECO:0000269PubMed:14536086, ECO:0000269PubMed:15327775, ECO:0000269PubMed:17952062}.
Subcellular Localization Nucleus. Chromosome. Note=Associated with non-pericentromeric regions of chromatin. Excluded from nucleoli and islands of condensed chromatin.
Disease Associations
Tissue Specificity Widely expressed. High expression in testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 165 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 165 [view]
Protein-Protein 164 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001833 inner cell mass cell proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0034968 histone lysine methylation
GO:0036124 histone H3-K9 trimethylation
GO:0060348 bone development
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR001214 SET domain
IPR001739 Methyl-CpG DNA binding
IPR002999 Tudor domain
IPR003606 Pre-SET zinc-binding sub-group
IPR003616 Post-SET domain
IPR007728 Pre-SET domain
IPR016177 DNA-binding domain
PFAM PF00856
PF01429
PF00567
PF05033
PRINTS
PIRSF
SMART SM00317
SM00391
SM00333
SM00468
SM00508
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q15047
PhosphoSite PhosphoSite-Q15047
TrEMBL E9PS59
UniProt Splice Variant
Entrez Gene 9869
UniGene Hs.643565
RefSeq NP_001138887
HUGO HGNC:10761
OMIM 604396
CCDS CCDS44217
HPRD 06828
IMGT
EMBL AL590133 BC009362 BC028671 CH471121 D31891
GenPept AAH09362 AAH28671 BAA06689 CAI13325 CAI13326 CAI13327 CAI13328 EAW53506