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GeneQ18034745· pop 5· linked from 10 articles

Also known as ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21, SET domain bifurcated 1, SET domain bifurcated histone lysine methyltransferase 1

Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the SETDB1 gene. SETDB1 is also known as KMT1E or H3K9 methyltransferase ESET.

Gene data

SETDB1
Name
SET domain bifurcated histone lysine methyltransferase 1
Type
protein-coding
Aliases
ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21

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.[provided by RefSeq, Jun 2011].

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Gene · Ensembl

SET domain bifurcated histone lysine methyltransferase 1

Symbol
SETDB1
Biotype
Protein coding
Organism
Homo sapiens
Location
1:150,926,263-150,964,748
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
32157
genomic end
150937213
genomic start
150898739
cytogenetic location
1q21.3
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~4 min read

Article

6 sections
Contents
  • Function
  • Interactions
  • See also
  • References
  • Further reading
  • External links

Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the SETDB1 gene. SETDB1 is also known as KMT1E or H3K9 methyltransferase ESET.

== Function == The human SETDB1 protein consists of multiple N-terminal and C-terminal functional domains linked by an intervening sequence of variable length, which can exist in multiple isoforms generated by alternative splicing.

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