SETDB1

NameSynonymsFull NameRefSeq IDDescription (.pdf)IGV-img (humangenome)Sashimi-img (humangenome)UCSC-img (humangenome)IGV-img (batgenome)
SETDB1 KIAA0067, KMT1E,KG1T, KIAA0067, ESET, TDRD21 SET domain, bifurcated 1 pdf

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Description

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. 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 expression is slightly upregulated in Hu7 23 hours after Ebola infection, but not in bat. The transcript may in some cases be fused with the transcript of the downstream gene coding for CERS2.

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Maximum read counts and DESeq normalized read counts for human and bat cell lines

Source Species Mapping on Mock3h Mock7h Mock23h EBOV3h EBOV7h EBOV23h MARV3h MARV7h MARV23h
Read_Max
humanH. sapiensGenome82 92 86 83 106 120 102 127 86
Read_Max
batR. aegyptiacusTranscriptome 33 36 24 34 35 40 36 50 32
Read_Max
bat_genomeR. aegyptiacusGenome 74 71 42 69 44 31 29 92 61
DESeq
humanH. sapiensGenome 2277.17 2018.31 1813.9 2086.17 1882.98 2549.94 2110.68 1949.82 1710.31
DESeq
batR. aegyptiacusTranscriptome 214.4 209.77 201.33 252.81 234.25 216.57 195.67 268.69 207.43
DESeq
bat_genomeR. aegyptiacusGenome 981.42 1080.62 908.24 1127.71 1030.19 967.31 724.2 1063.34 867.32

Human Condition Comparisons

human Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 2277.17 2086.17 2110.68 -0.13 -0.11 0.02
7h 2018.31 1882.98 1949.82 -0.1 -0.05 0.05
23h 1813.9 2549.94 1710.31 0.49 -0.08 -0.58

Human Time Point Comparisons

human 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 2277.17 2018.31 1813.9 -0.17 -0.33 -0.15
Ebov 2086.17 1882.98 2549.94 -0.15 0.29 0.44
Marv 2110.68 1949.82 1710.31 -0.11 -0.3 -0.19

Bat Condition Comparisons

bat Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 214.4 252.81 195.67 0.24 -0.13 -0.37
7h 209.77 234.25 268.69 0.16 0.36 0.2
23h 201.33 216.57 207.43 0.11 0.04 -0.06

Bat Time Point Comparisons

bat 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 214.4 209.77 201.33 -0.03 -0.09 -0.06
Ebov 252.81 234.25 216.57 -0.11 -0.22 -0.11
Marv 195.67 268.69 207.43 0.46 0.08 -0.37