Gene

SETDB1

Species
Homo sapiens
Symbol
SETDB1
Name
SET domain bifurcated histone lysine methyltransferase 1
Synonyms
  • ERG-associated protein with a SET domain, ESET
  • ERG-associated protein with SET domain
Biotype
protein coding gene
Automated Description
Enables histone H3K9 trimethyltransferase activity and promoter-specific chromatin binding activity. Involved in DNA methylation-dependent constitutive heterochromatin formation. Located in cytoplasm and nucleoplasm. Is active in nucleus. Implicated in autistic disorder and lung cancer. Biomarker of Huntington's disease; high grade glioma; melanoma; prostate cancer; and schizophrenia.
RGD 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.[provided by RefSeq, Jun 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46024
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
150.930M150.935M150.940M150.945M150.950M150.955M150.960M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions