InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-102212

SET domain, bifurcated 1

IDBP-102214

SET domain, bifurcated 1

IDBP-102216

SET domain, bifurcated 1

IDBP-102218

SET domain, bifurcated 1

IDBP-102220

SET domain, bifurcated 1

IDBP-388399

SET domain, bifurcated 1

IDBP-388400

SET domain, bifurcated 1

IDBP-591806

SET domain, bifurcated 1

IDBP-597239

SET domain, bifurcated 1

IDBP-595196

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

ENSMUSG00000015697

View Gene Order

ENSBTAG00000000098

Not yet available

Pathways

NETPATH

NetPath_8

Wnt pathway

REACTOME

KEGG

hsa00310

Lysine degradation pathway

INOH

PID NCI

wnt_noncanonical_pathway

Noncanonical Wnt signaling pathway

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.643565

RefSeq

NM_001145415 NM_001243491 NM_012432 XM_005245641 XM_006711672

HUGO

OMIM

CCDS

CCDS44217 CCDS58026 CCDS972

HPRD

06828

IMGT

EMBL

GenPept

RNA Seq Atlas