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ESCO1 (establishment of sister chromatid cohesion N-acetyltransferase 1)

Identity

Alias_namesestablishment of cohesion 1 homolog 1 (S. cerevisiae)
Alias_symbol (synonym)ESO1
EFO1
KIAA1911
Other aliasA930014I12Rik
CTF
ECO1
HGNC (Hugo) ESCO1
LocusID (NCBI) 114799
Atlas_Id 50238
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 21529301 and ends at 21600732 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ESCO1 (18q11.2) / ABHD3 (18q11.2)ESCO1 (18q11.2) / ESCO1 (18q11.2)ESCO1 (18q11.2) / FAM210A (18p11.21)
ESCO1 (18q11.2) / FAM65C (20q13.13)ESCO1 (18q11.2) / KANK1 (9p24.3)ESCO1 (18q11.2) / LAMA3 (18q11.2)
ESCO1 (18q11.2) / MGRN1 (16p13.3)ESCO1 18q11.2 / ABHD3 18q11.2ESCO1 18q11.2 / FAM65C 20q13.13
ESCO1 18q11.2 / KANK1 9p24.3ESCO1 18q11.2 / LAMA3 18q11.2

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)ESCO1   24645
Cards
Entrez_Gene (NCBI)ESCO1  114799  establishment of sister chromatid cohesion N-acetyltransferase 1
AliasesA930014I12Rik; CTF; ECO1; EFO1; 
ESO1
GeneCards (Weizmann)ESCO1
Ensembl hg19 (Hinxton)ENSG00000141446 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141446 [Gene_View]  chr18:21529301-21600732 [Contig_View]  ESCO1 [Vega]
ICGC DataPortalENSG00000141446
TCGA cBioPortalESCO1
AceView (NCBI)ESCO1
Genatlas (Paris)ESCO1
WikiGenes114799
SOURCE (Princeton)ESCO1
Genetics Home Reference (NIH)ESCO1
Genomic and cartography
GoldenPath hg38 (UCSC)ESCO1  -     chr18:21529301-21600732 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESCO1  -     18q11.2   [Description]    (hg19-Feb_2009)
EnsemblESCO1 - 18q11.2 [CytoView hg19]  ESCO1 - 18q11.2 [CytoView hg38]
Mapping of homologs : NCBIESCO1 [Mapview hg19]  ESCO1 [Mapview hg38]
OMIM609674   
Gene and transcription
Genbank (Entrez)AB067498 AK090579 AK096746 AL832041 AL834200
RefSeq transcript (Entrez)NM_052911
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESCO1
Cluster EST : UnigeneHs.464733 [ NCBI ]
CGAP (NCI)Hs.464733
Alternative Splicing GalleryENSG00000141446
Gene ExpressionESCO1 [ NCBI-GEO ]   ESCO1 [ EBI - ARRAY_EXPRESS ]   ESCO1 [ SEEK ]   ESCO1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESCO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114799
GTEX Portal (Tissue expression)ESCO1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5FWF5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5FWF5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5FWF5
Splice isoforms : SwissVarQ5FWF5
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusQ5FWF5
Domains : Interpro (EBI)AcTrfase_ESCO1    AcTrfase_ESCO_Znf_dom    ESCO_Acetyltransf_dom   
Domain families : Pfam (Sanger)Acetyltransf_13 (PF13880)    zf-C2H2_3 (PF13878)   
Domain families : Pfam (NCBI)pfam13880    pfam13878   
Conserved Domain (NCBI)ESCO1
DMDM Disease mutations114799
Blocks (Seattle)ESCO1
PDB (SRS)4MXE    5T53   
PDB (PDBSum)4MXE    5T53   
PDB (IMB)4MXE    5T53   
PDB (RSDB)4MXE    5T53   
Structural Biology KnowledgeBase4MXE    5T53   
SCOP (Structural Classification of Proteins)4MXE    5T53   
CATH (Classification of proteins structures)4MXE    5T53   
SuperfamilyQ5FWF5
Human Protein AtlasENSG00000141446
Peptide AtlasQ5FWF5
HPRD16868
IPIIPI00552279   IPI00604608   IPI00289838   
Protein Interaction databases
DIP (DOE-UCLA)Q5FWF5
IntAct (EBI)Q5FWF5
FunCoupENSG00000141446
BioGRIDESCO1
STRING (EMBL)ESCO1
ZODIACESCO1
Ontologies - Pathways
QuickGOQ5FWF5
Ontology : AmiGOchromatin  nucleoplasm  regulation of DNA replication  sister chromatid cohesion  N-acetyltransferase activity  post-translational protein acetylation  metal ion binding  
Ontology : EGO-EBIchromatin  nucleoplasm  regulation of DNA replication  sister chromatid cohesion  N-acetyltransferase activity  post-translational protein acetylation  metal ion binding  
NDEx NetworkESCO1
Atlas of Cancer Signalling NetworkESCO1
Wikipedia pathwaysESCO1
Orthology - Evolution
OrthoDB114799
GeneTree (enSembl)ENSG00000141446
Phylogenetic Trees/Animal Genes : TreeFamESCO1
HOVERGENQ5FWF5
HOGENOMQ5FWF5
Homologs : HomoloGeneESCO1
Homology/Alignments : Family Browser (UCSC)ESCO1
Gene fusions - Rearrangements
Fusion : MitelmanESCO1/ABHD3 [18q11.2/18q11.2]  
Fusion : MitelmanESCO1/FAM65C [18q11.2/20q13.13]  [t(18;20)(q11;q13)]  
Fusion : MitelmanESCO1/KANK1 [18q11.2/9p24.3]  [t(9;18)(p24;q11)]  
Fusion : MitelmanESCO1/LAMA3 [18q11.2/18q11.2]  [t(18;18)(q11;q11)]  
Fusion: TCGAESCO1 18q11.2 ABHD3 18q11.2 BRCA
Fusion: TCGAESCO1 18q11.2 FAM65C 20q13.13 OV
Fusion: TCGAESCO1 18q11.2 KANK1 9p24.3 BRCA
Fusion: TCGAESCO1 18q11.2 LAMA3 18q11.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESCO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESCO1
dbVarESCO1
ClinVarESCO1
1000_GenomesESCO1 
Exome Variant ServerESCO1
ExAC (Exome Aggregation Consortium)ESCO1 (select the gene name)
Genetic variants : HAPMAP114799
Genomic Variants (DGV)ESCO1 [DGVbeta]
DECIPHERESCO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESCO1 
Mutations
ICGC Data PortalESCO1 
TCGA Data PortalESCO1 
Broad Tumor PortalESCO1
OASIS PortalESCO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESCO1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESCO1
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 ESCO1
DgiDB (Drug Gene Interaction Database)ESCO1
DoCM (Curated mutations)ESCO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESCO1 (select a term)
intoGenESCO1
Cancer3DESCO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609674   
Orphanet
MedgenESCO1
Genetic Testing Registry ESCO1
NextProtQ5FWF5 [Medical]
TSGene114799
GENETestsESCO1
Target ValidationESCO1
Huge Navigator ESCO1 [HugePedia]
snp3D : Map Gene to Disease114799
BioCentury BCIQESCO1
ClinGenESCO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114799
Chemical/Pharm GKB GenePA134924215
Clinical trialESCO1
Miscellaneous
canSAR (ICR)ESCO1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESCO1
EVEXESCO1
GoPubMedESCO1
iHOPESCO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:00:37 CEST 2017

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