SETDB1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0045869Biological processnegative regulation of single stranded viral RNA replication via double stranded DNA intermediate
GO_0032259Biological processmethylation
GO_0010629Biological processnegative regulation of gene expression
GO_0090309Biological processpositive regulation of DNA methylation-dependent heterochromatin formation
GO_0006338Biological processchromatin remodeling
GO_0070828Biological processheterochromatin organization
GO_0005654Cellular componentnucleoplasm
GO_0005737Cellular componentcytoplasm
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0005694Cellular componentchromosome
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_1990841Molecular functionpromoter-specific chromatin binding
GO_0140949Molecular functionhistone H3K9 trimethyltransferase activity
GO_0003682Molecular functionchromatin binding
GO_0046974Molecular functionhistone H3K9 methyltransferase activity
GO_0140947Molecular functionhistone H3K9me2 methyltransferase activity
GO_0008270Molecular functionzinc ion binding
GO_0140948Molecular functionhistone H3K9 monomethyltransferase activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameSETDB1
Protein nameSET domain bifurcated histone lysine methyltransferase 1
Histone-lysine N-methyltransferase SETDB1 (EC 2.1.1.366) (ERG-associated protein with SET domain) (ESET) (Histone H3-K9 methyltransferase 4) (H3-K9-HMTase 4) (Lysine N-methyltransferase 1E) (SET domain bifurcated 1)
SET domain bifurcated histone lysine methyltransferase 1 (SET domain, bifurcated 1, isoform CRA_c)
SynonymsKIAA0067
KMT1E
hCG_39375
ESET
DescriptionFUNCTION: 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 . Required for HUSH-mediated heterochromatin formation and gene silencing. 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. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells . Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) . In ESCs, in collaboration with TRIM28, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing . The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions . .

AccessionsE9PAP1
ENST00000525956.5
E9PQM8
A0A8I5KT93
ENST00000423081.1
ENST00000368962.6 [Q15047-2]
ENST00000692314.1
X6RHV1
ENST00000534805.5
Q15047
ENST00000368963.5
B0QZE6
X6R732
ENST00000498193.5
ENST00000692827.1
E9PS59
ENST00000271640.9 [Q15047-1]
ENST00000448029.5
ENST00000368969.8 [Q15047-3]
E9PRF4
ENST00000368964.3