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SETDB1 (SET domain bifurcated 1)

Identity

Alias_namesSET domain
Alias_symbol (synonym)KG1T
KIAA0067
ESET
KMT1E
TDRD21
Other aliasH3-K9-HMTase4
HGNC (Hugo) SETDB1
LocusID (NCBI) 9869
Atlas_Id 42273
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 150926339 and ends at 150964744 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  9869  SET domain bifurcated 1
AliasesESET; H3-K9-HMTase4; KG1T; KMT1E; 
TDRD21
GeneCards (Weizmann)SETDB1
Ensembl hg19 (Hinxton)ENSG00000143379 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143379 [Gene_View]  chr1:150926339-150964744 [Contig_View]  SETDB1 [Vega]
ICGC DataPortalENSG00000143379
TCGA cBioPortalSETDB1
AceView (NCBI)SETDB1
Genatlas (Paris)SETDB1
WikiGenes9869
SOURCE (Princeton)SETDB1
Genetics Home Reference (NIH)SETDB1
Genomic and cartography
GoldenPath hg38 (UCSC)SETDB1  -     chr1:150926339-150964744 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SETDB1  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblSETDB1 - 1q21.3 [CytoView hg19]  SETDB1 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBISETDB1 [Mapview hg19]  SETDB1 [Mapview hg38]
OMIM604396   
Gene and transcription
Genbank (Entrez)AI582266 AK095075 AK302461 AK308335 BC009362
RefSeq transcript (Entrez)NM_001145415 NM_001243491 NM_012432
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SETDB1
Cluster EST : UnigeneHs.643565 [ NCBI ]
CGAP (NCI)Hs.643565
Alternative Splicing GalleryENSG00000143379
Gene ExpressionSETDB1 [ NCBI-GEO ]   SETDB1 [ EBI - ARRAY_EXPRESS ]   SETDB1 [ SEEK ]   SETDB1 [ MEM ]
Gene Expression Viewer (FireBrowse)SETDB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9869
GTEX Portal (Tissue expression)SETDB1
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
Splice isoforms : SwissVarQ15047
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
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    Hist-Lys_N-MeTrfase_SETDB1    Methyl_CpG_DNA-bd    Post-SET_dom    Pre-SET_dom    SET_dom    Tudor   
Domain families : Pfam (Sanger)MBD (PF01429)    Pre-SET (PF05033)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam01429    pfam05033    pfam00856   
Domain families : Smart (EMBL)MBD (SM00391)  PreSET (SM00468)  SET (SM00317)  TUDOR (SM00333)  
Conserved Domain (NCBI)SETDB1
DMDM Disease mutations9869
Blocks (Seattle)SETDB1
PDB (SRS)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
PDB (PDBSum)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
PDB (IMB)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
PDB (RSDB)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
Structural Biology KnowledgeBase3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
SCOP (Structural Classification of Proteins)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
CATH (Classification of proteins structures)3DLM    4X3S    5KCH    5KCO    5KE2    5KE3    5KH6   
SuperfamilyQ15047
Human Protein AtlasENSG00000143379
Peptide AtlasQ15047
HPRD06828
IPIIPI00018321   IPI00218321   IPI00879832   IPI00910586   IPI00514666   IPI01010652   IPI00879661   IPI01009576   IPI00977848   IPI00979086   IPI00974582   
Protein Interaction databases
DIP (DOE-UCLA)Q15047
IntAct (EBI)Q15047
FunCoupENSG00000143379
BioGRIDSETDB1
STRING (EMBL)SETDB1
ZODIACSETDB1
Ontologies - Pathways
QuickGOQ15047
Ontology : AmiGODNA binding  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  cytosol  plasma membrane  transcription, DNA-templated  Ras protein signal transduction  zinc ion binding  histone-lysine N-methyltransferase activity  response to vitamin  histone lysine methylation  intracellular membrane-bounded organelle  response to ethanol  positive regulation of methylation-dependent chromatin silencing  promoter-specific chromatin binding  
Ontology : EGO-EBIDNA binding  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  cytosol  plasma membrane  transcription, DNA-templated  Ras protein signal transduction  zinc ion binding  histone-lysine N-methyltransferase activity  response to vitamin  histone lysine methylation  intracellular membrane-bounded organelle  response to ethanol  positive regulation of methylation-dependent chromatin silencing  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
HOVERGENQ15047
HOGENOMQ15047
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]  [t(1;2)(q21;q24)]  
Fusion : MitelmanSETDB1/PLEKHO1 [1q21.3/1q21.2]  [t(1;1)(q21;q21)]  
Fusion: TCGASETDB1 1q21.3 CD46 1q32.2 BRCA
Fusion: TCGASETDB1 1q21.3 PKP4 2q24.1 BRCA
Fusion: TCGASETDB1 1q21.3 PLEKHO1 1q21.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSETDB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SETDB1
dbVarSETDB1
ClinVarSETDB1
1000_GenomesSETDB1 
Exome Variant ServerSETDB1
ExAC (Exome Aggregation Consortium)SETDB1 (select the gene name)
Genetic variants : HAPMAP9869
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]
Somatic Mutations in Cancer : COSMICSETDB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSETDB1
intOGen PortalSETDB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SETDB1
DgiDB (Drug Gene Interaction Database)SETDB1
DoCM (Curated mutations)SETDB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SETDB1 (select a term)
intoGenSETDB1
Cancer3DSETDB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604396   
Orphanet
MedgenSETDB1
Genetic Testing Registry SETDB1
NextProtQ15047 [Medical]
TSGene9869
GENETestsSETDB1
Target ValidationSETDB1
Huge Navigator SETDB1 [HugePedia]
snp3D : Map Gene to Disease9869
BioCentury BCIQSETDB1
ClinGenSETDB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9869
Chemical/Pharm GKB GenePA35679
Clinical trialSETDB1
Miscellaneous
canSAR (ICR)SETDB1 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSETDB1
EVEXSETDB1
GoPubMedSETDB1
iHOPSETDB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:55:06 CEST 2017

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