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SETDB1 (SET domain bifurcated histone lysine methyltransferase 1)

Identity

Alias (NCBI)ESET
H3-K9-HMTase4
KG1T
KMT1E
TDRD21
HGNC (Hugo) SETDB1
HGNC Alias symbKG1T
KIAA0067
ESET
KMT1E
TDRD21
HGNC Alias nametudor domain containing 21
HGNC Previous nameSET domain, bifurcated 1
 SET domain bifurcated 1
LocusID (NCBI) 9869
Atlas_Id 42273
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 150926363 and ends at 150964737 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FAM118A (22q13.31) / SETDB1 (1q21.3)MALAT1 (11q13.1) / SETDB1 (1q21.3)SETDB1 (1q21.3) / ACTG1 (17q25.3)
SETDB1 (1q21.3) / CD46 (1q32.2)SETDB1 (1q21.3) / CFHR4 (1q31.3)SETDB1 (1q21.3) / PKP4 (2q24.1)
SETDB1 (1q21.3) / PLEKHO1 (1q21.2)SETDB1 1q21.3 / CD46 1q32.2SETDB1 1q21.3 / PKP4 2q24.1
SETDB1 1q21.3 / PLEKHO1 1q21.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SETDB1   10761
Cards
Entrez_Gene (NCBI)SETDB1    SET domain bifurcated histone lysine methyltransferase 1
AliasesESET; H3-K9-HMTase4; KG1T; KMT1E; 
TDRD21
GeneCards (Weizmann)SETDB1
Ensembl hg19 (Hinxton)ENSG00000143379 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143379 [Gene_View]  ENSG00000143379 [Sequence]  chr1:150926363-150964737 [Contig_View]  SETDB1 [Vega]
ICGC DataPortalENSG00000143379
TCGA cBioPortalSETDB1
AceView (NCBI)SETDB1
Genatlas (Paris)SETDB1
SOURCE (Princeton)SETDB1
Genetics Home Reference (NIH)SETDB1
Genomic and cartography
GoldenPath hg38 (UCSC)SETDB1  -     chr1:150926363-150964737 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SETDB1  -     1q21.3   [Description]    (hg19-Feb_2009)
GoldenPathSETDB1 - 1q21.3 [CytoView hg19]  SETDB1 - 1q21.3 [CytoView hg38]
ImmunoBaseENSG00000143379
Genome Data Viewer NCBISETDB1 [Mapview hg19]  
OMIM604396   
Gene and transcription
Genbank (Entrez)AI582266 AK095075 AK302461 AK308335 BC009362
RefSeq transcript (Entrez)NM_001145415 NM_001243491 NM_001366417 NM_001366418 NM_001393958 NM_001393959 NM_001393960 NM_001393961 NM_001393964 NM_001393965 NM_001393966 NM_001393967 NM_001393968 NM_012432
Consensus coding sequences : CCDS (NCBI)SETDB1
Gene ExpressionSETDB1 [ NCBI-GEO ]   SETDB1 [ EBI - ARRAY_EXPRESS ]   SETDB1 [ SEEK ]   SETDB1 [ MEM ]
Gene Expression Viewer (FireBrowse)SETDB1 [ Firebrowse - Broad ]
GenevisibleExpression of SETDB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9869
GTEX Portal (Tissue expression)SETDB1
Human Protein AtlasENSG00000143379-SETDB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15047   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15047  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15047
PhosPhoSitePlusQ15047
Domaine pattern : Prosite (Expaxy)MBD (PS50982)    POST_SET (PS50868)    PRE_SET (PS50867)    SAM_MT43_SUVAR39_1 (PS51573)    SET (PS50280)   
Domains : Interpro (EBI)DNA-bd_dom_sf    DUF5604    Hist-Lys_N-MeTrfase_SETDB1    Methyl_CpG_DNA-bd    Post-SET_dom    Pre-SET_dom    SET_dom    Tudor    Tudor_4    TUDOR_5   
Domain families : Pfam (Sanger)DUF5604 (PF18300)    MBD (PF01429)    Pre-SET (PF05033)    SET (PF00856)    Tudor_4 (PF18358)    TUDOR_5 (PF18359)   
Domain families : Pfam (NCBI)pfam18300    pfam01429    pfam05033    pfam00856    pfam18358    pfam18359   
Domain families : Smart (EMBL)MBD (SM00391)  PreSET (SM00468)  SET (SM00317)  TUDOR (SM00333)  
Conserved Domain (NCBI)SETDB1
PDB (RSDB)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
PDB Europe3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
PDB (PDBSum)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
PDB (IMB)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
Structural Biology KnowledgeBase3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
SCOP (Structural Classification of Proteins)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
CATH (Classification of proteins structures)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6    5QT1    5QT2    6AU2    6AU3    6BHD    6BHE    6BHG    6BHH    6BHI    6BPI   
SuperfamilyQ15047
AlphaFold pdb e-kbQ15047   
Human Protein Atlas [tissue]ENSG00000143379-SETDB1 [tissue]
HPRD06828
Protein Interaction databases
DIP (DOE-UCLA)Q15047
IntAct (EBI)Q15047
BioGRIDSETDB1
STRING (EMBL)SETDB1
ZODIACSETDB1
Ontologies - Pathways
QuickGOQ15047
Ontology : AmiGODNA binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  Ras protein signal transduction  zinc ion binding  negative regulation of gene expression  histone-lysine N-methyltransferase activity  response to vitamin  intracellular membrane-bounded organelle  response to ethanol  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K9 specific)  histone H3-K9 methylation  heterochromatin organization  positive regulation of DNA methylation-dependent heterochromatin assembly  positive regulation of DNA methylation-dependent heterochromatin assembly  positive regulation of DNA methylation-dependent heterochromatin assembly  promoter-specific chromatin binding  
Ontology : EGO-EBIDNA binding  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  Ras protein signal transduction  zinc ion binding  negative regulation of gene expression  histone-lysine N-methyltransferase activity  response to vitamin  intracellular membrane-bounded organelle  response to ethanol  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  histone methyltransferase activity (H3-K9 specific)  histone methyltransferase activity (H3-K9 specific)  histone H3-K9 methylation  heterochromatin organization  positive regulation of DNA methylation-dependent heterochromatin assembly  positive regulation of DNA methylation-dependent heterochromatin assembly  positive regulation of DNA methylation-dependent heterochromatin assembly  promoter-specific chromatin binding  
Pathways : KEGGLysine degradation   
NDEx NetworkSETDB1
Atlas of Cancer Signalling NetworkSETDB1
Wikipedia pathwaysSETDB1
Orthology - Evolution
OrthoDB9869
GeneTree (enSembl)ENSG00000143379
Phylogenetic Trees/Animal Genes : TreeFamSETDB1
Homologs : HomoloGeneSETDB1
Homology/Alignments : Family Browser (UCSC)SETDB1
Gene fusions - Rearrangements
Fusion : MitelmanSETDB1/CD46 [1q21.3/1q32.2]  
Fusion : MitelmanSETDB1/PKP4 [1q21.3/2q24.1]  
Fusion : MitelmanSETDB1/PLEKHO1 [1q21.3/1q21.2]  
Fusion : QuiverSETDB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSETDB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SETDB1
dbVarSETDB1
ClinVarSETDB1
MonarchSETDB1
1000_GenomesSETDB1 
Exome Variant ServerSETDB1
GNOMAD BrowserENSG00000143379
Varsome BrowserSETDB1
ACMGSETDB1 variants
VarityQ15047
Genomic Variants (DGV)SETDB1 [DGVbeta]
DECIPHERSETDB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSETDB1 
Mutations
ICGC Data PortalSETDB1 
TCGA Data PortalSETDB1 
Broad Tumor PortalSETDB1
OASIS PortalSETDB1 [ Somatic mutations - Copy number]
Cancer Gene: CensusSETDB1 
Somatic Mutations in Cancer : COSMICSETDB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSETDB1
Mutations and Diseases : HGMDSETDB1
intOGen PortalSETDB1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSETDB1
DgiDB (Drug Gene Interaction Database)SETDB1
DoCM (Curated mutations)SETDB1
CIViC (Clinical Interpretations of Variants in Cancer)SETDB1
Cancer3DSETDB1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604396   
Orphanet
DisGeNETSETDB1
MedgenSETDB1
Genetic Testing Registry SETDB1
NextProtQ15047 [Medical]
GENETestsSETDB1
Target ValidationSETDB1
Huge Navigator SETDB1 [HugePedia]
ClinGenSETDB1
Clinical trials, drugs, therapy
MyCancerGenomeSETDB1
Protein Interactions : CTDSETDB1
Pharm GKB GenePA35679
PharosQ15047
Clinical trialSETDB1
Miscellaneous
canSAR (ICR)SETDB1
HarmonizomeSETDB1
DataMed IndexSETDB1
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSETDB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:30:46 CEST 2021

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