SETDB1

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
Position: 150,926,263–150,964,748 (+)
Aliases: ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21
Ensembl: ENSG00000143379
RefSeq RNA: NM_001145415.2, NM_001243491.2, NM_001366417.1, NM_001366418.1, NM_001393958.1
RefSeq protein: NP_001138887.1, NP_001230420.1, NP_001353346.1, NP_001353347.1, NP_001380887.1

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].

Pathways

Lysine degradation - Homo sapiens (human)Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human)Epigenetic regulation of gene expression Epigenetic regulation of gene expression PKMTs methylate histone lysines Chromatin modifying enzymes Chromatin organization Gene expression (Transcription)Gene expression (Transcription)Regulation of endogenous retroelements

via MyGene.info

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

~4 min read

Encyclopedic overview

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.

Excerpted from Wikipedia’s “SETDB1” article, available under the CC BY-SA 4.0 licence.