| Gene Symbol |
SETDB1
|
| Entrez Gene |
9869
|
| Alt Symbol |
ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SET domain, bifurcated 1
|
| Other Description |
ERG-associated protein with SET domain|ERG-associated protein with a SET domain, ESET|H3-K9-HMTase 4|histone H3-K9 methyltransferase 4|histone-lysine N-methyltransferase SETDB1|histone-lysine N-methyltransferase, H3lysine-9 specific 4|lysine N-methyltransferase 1E|tudor domain containing 21
|
| Swissprots |
Q96GM9 Q5SZE0 A6NEW2 Q5SZD9 Q15047 Q5SZE7 Q5SZD8
|
| Accessions |
CBJ06473 CBJ06474 EAW53503 EAW53504 EAW53505 EAW53506 EAW53507 EAW53508 Q15047 AI582266 AK095075 AK302461 BAG63752 AK308335 BC009362 AAH09362 BC028671 AAH28671 D31891 BAA06689 DA418593 DB062762 XM_005245641 XP_005245698 NM_001145415 NP_001138887 NM_001243491 NP_001230420 NM_012432 NP_036564
|
| 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:0000269|PubMed:12869583, ECO:0000269|PubMed:14536086, ECO:0000269|PubMed:15327775, ECO:0000269|PubMed:17952062}.
|
| Subcellular Location |
Nucleus. Chromosome. Note=Associated with non-pericentromeric regions of chromatin. Excluded from nucleoli and islands of condensed chromatin.
|
| Tissue Specificity |
Widely expressed. High expression in testis.
|
| Top Pathways |
Signaling pathways regulating pluripotency of stem cells, Lysine degradation
|