Homo sapiens Gene: SETDB1
Summary
InnateDB Gene IDBG-102210.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SETDB1
Gene Name SET domain, bifurcated 1
Synonyms ESET; H3-K9-HMTase4; KG1T; KMT1E; TDRD21;
Species Homo sapiens
Ensembl Gene ENSG00000143379
Encoded Proteins
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
SET domain, bifurcated 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:150926263-150964744
Strand Forward strand
Band q21.3
Transcripts
ENST00000368969 ENSP00000357965
ENST00000271640 ENSP00000271640
ENST00000368964 ENSP00000357960
ENST00000368963 ENSP00000357959
ENST00000368962 ENSP00000357958
ENST00000448029 ENSP00000409379
ENST00000423081 ENSP00000407831
ENST00000487584
ENST00000463774
ENST00000459773
ENST00000498193 ENSP00000432348
ENST00000481219
ENST00000497314
ENST00000525956 ENSP00000435922
ENST00000534805 ENSP00000436148
ENST00000528749
ENST00000533529
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 165 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 165 [view]
Protein-Protein 164 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001833 inner cell mass cell proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0034968 histone lysine methylation
GO:0036124 histone H3-K9 trimethylation
GO:0060348 bone development
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Wnt pathway
REACTOME
KEGG
Lysine degradation pathway
INOH
PID BIOCARTA
PID NCI
Noncanonical Wnt signaling pathway
Cross-References
SwissProt
TrEMBL B0QZE6 E9PQM8 E9PS59
UniProt Splice Variant
Entrez Gene 9869
UniGene Hs.643565
RefSeq NM_001145415 NM_001243491 NM_012432 XM_005245641 XM_006711672
HUGO HGNC:10761
OMIM 604396
CCDS CCDS44217 CCDS58026 CCDS972
HPRD 06828
IMGT
EMBL AL590133
GenPept
RNA Seq Atlas 9869