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Aliases for ESCO1 Gene

Aliases for ESCO1 Gene

  • Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1 2 3 5
  • Establishment Of Cohesion 1 Homolog 1 3 4
  • Establishment Factor-Like Protein 1 3 4
  • CTF7 Homolog 1 3 4
  • ECO1 Homolog 1 3 4
  • ESO1 Homolog 1 3 4
  • EFO1p 3 4
  • HEFO1 3 4
  • EFO1 3 4
  • Establishment Of Cohesion 1 Homolog 1 (S. Cerevisiae) 2
  • N-Acetyltransferase ESCO1 Variant 2 3
  • N-Acetyltransferase ESCO1 3
  • A930014I12Rik 3
  • EC 2.3.1.- 4
  • KIAA1911 4
  • ECO1 3
  • ESO1 3
  • CTF 3

External Ids for ESCO1 Gene

Previous GeneCards Identifiers for ESCO1 Gene

  • GC18M017364
  • GC18M019109
  • GC18M015956

Summaries for ESCO1 Gene

Entrez Gene Summary for ESCO1 Gene

  • ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ESCO1 Gene

ESCO1 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ESCO1 include Roberts Syndrome and Nail Disorder, Nonsyndromic Congenital, 4. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is ESCO2.

UniProtKB/Swiss-Prot for ESCO1 Gene

  • Acetyltransferase required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3.

Additional gene information for ESCO1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESCO1 Gene

Genomics for ESCO1 Gene

GeneHancer (GH) Regulatory Elements for ESCO1 Gene

Promoters and enhancers for ESCO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J021598 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 666.2 +0.1 141 4.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 ESCO1 SNRPD1 GC18P021602 MIR320C1 MIB1 ENSG00000199977 ABHD3 GC18P021594 GC18M021596
GH18J021611 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46.1 -11.8 -11763 2.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D SNRPD1 ESCO1 ENSG00000264188 MIR320C1 MIB1 GC18M021596
GH18J021701 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 46.6 -102.5 -102544 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 ZNF213 ZNF143 SP3 ABHD3 MIB1 LOC105376866 ESCO1 ENSG00000264188 ROCK1 SNRPD1 MIR320C1
GH18J022163 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.4 -580.6 -580606 36.4 FEZF1 YY1 ZNF213 ZNF263 SP3 ZFP41 MEF2D SSRP1 ZNF610 GLIS1 GATA6 GC18M022181 RNU6-702P ESCO1 RBBP8 MIB1 SNRPD1 LOC105372019 ENSG00000264012 GATA6-AS1
GH18J022339 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 26.2 -744.8 -744776 11.3 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 YY1 ZNF121 GLIS2 ZNF213 SP3 ESCO1 LOC105372019 LOC101927548
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESCO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESCO1 gene promoter:
  • HNF-1A
  • HNF-1
  • c-Ets-1
  • FOXO4
  • Arnt
  • AhR
  • HEN1
  • HSF1short
  • HSF1 (long)
  • Pax-4a

Genomic Locations for ESCO1 Gene

Genomic Locations for ESCO1 Gene
chr18:21,529,281-21,600,884
(GRCh38/hg38)
Size:
71,604 bases
Orientation:
Minus strand
chr18:19,109,242-19,180,845
(GRCh37/hg19)
Size:
71,604 bases
Orientation:
Minus strand

Genomic View for ESCO1 Gene

Genes around ESCO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESCO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESCO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESCO1 Gene

Proteins for ESCO1 Gene

  • Protein details for ESCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5FWF5-ESCO1_HUMAN
    Recommended name:
    N-acetyltransferase ESCO1
    Protein Accession:
    Q5FWF5
    Secondary Accessions:
    • B0YJ11
    • B0YJ12
    • Q69YG4
    • Q69YS3
    • Q6IMD7
    • Q8N3Z5
    • Q8NBG2
    • Q96PX7

    Protein attributes for ESCO1 Gene

    Size:
    840 amino acids
    Molecular mass:
    94983 Da
    Quaternary structure:
    • The subunit structure is controversial. Monomer (PubMed:27803161). Homodimer (PubMed:27112597).
    SequenceCaution:
    • Sequence=AAH36943.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAB67804.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03483.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESCO1 Gene

    Alternative splice isoforms for ESCO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESCO1 Gene

Post-translational modifications for ESCO1 Gene

Other Protein References for ESCO1 Gene

No data available for DME Specific Peptides for ESCO1 Gene

Domains & Families for ESCO1 Gene

Gene Families for ESCO1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ESCO1 Gene

Suggested Antigen Peptide Sequences for ESCO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5FWF5

UniProtKB/Swiss-Prot:

ESCO1_HUMAN :
  • The N-terminal region seems to be responsible for the association with chromosomes, thus excluding any involvement of the Zn finger in this process.
  • Belongs to the acetyltransferase family. ECO subfamily.
Domain:
  • The N-terminal region seems to be responsible for the association with chromosomes, thus excluding any involvement of the Zn finger in this process.
Family:
  • Belongs to the acetyltransferase family. ECO subfamily.
genes like me logo Genes that share domains with ESCO1: view

Function for ESCO1 Gene

Molecular function for ESCO1 Gene

UniProtKB/Swiss-Prot Function:
Acetyltransferase required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=77 uM for acetyl-CoA {ECO:0000269 PubMed:27803161};

Enzyme Numbers (IUBMB) for ESCO1 Gene

Phenotypes From GWAS Catalog for ESCO1 Gene

Gene Ontology (GO) - Molecular Function for ESCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008080 N-acetyltransferase activity TAS --
GO:0008270 zinc ion binding IDA 27803161
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ESCO1: view
genes like me logo Genes that share phenotypes with ESCO1: view

Animal Models for ESCO1 Gene

MGI Knock Outs for ESCO1:
  • Esco1 Esco1<tm1(KOMP)Wtsi>

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESCO1 Gene

Localization for ESCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESCO1 Gene

Nucleus. Chromosome. Note=Nuclear at interphase, associated with chromosomes during mitosis (PubMed:15958495).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESCO1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ESCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 19907496
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with ESCO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ESCO1 Gene

Pathways & Interactions for ESCO1 Gene

genes like me logo Genes that share pathways with ESCO1: view

Pathways by source for ESCO1 Gene

SIGNOR curated interactions for ESCO1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ESCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006275 regulation of DNA replication IEA,IMP 19907496
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion IEA --
GO:0018394 peptidyl-lysine acetylation IDA 27112597
GO:0034421 post-translational protein acetylation IMP,IEA 21111234
genes like me logo Genes that share ontologies with ESCO1: view

Drugs & Compounds for ESCO1 Gene

(5) Additional Compounds for ESCO1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxyphenylacetyl-CoA
  • [(2R,3R,4R,5R)-5-(6-Aminopurin-9-yl)-4-hydroxy-2-[[hydroxy-[hydroxy-[3-hydroxy-3-[2-[2-[2-(4-hydroxyphenyl)acetyl]sulfanylethylcarbamoyl]ethylcarbamoyl]-2,2-dimethyl-propoxy]phosphoryl]oxy-phosphoryl]oxymethyl]oxolan-3-yl]oxyphosphonic acid
117411-05-9
glycerol 3-phosphate
  • (R)-Glycerol 1-phosphate
  • D-(Glycerol 1-phosphate)
  • D-Glycerol 1-phosphate
  • Glycerol-3-phosphate
  • Glycerophosphoric acid
57-03-4
Hydroxyphenylacetylglycine
  • P-Hydroxyphenylacetylglycine
  • 4-Hydroxyphenylacetylglycine
  • N-[(4-Hydroxyphenyl)acetyl]-glycine
  • N-[(P-Hydroxyphenyl)acetyl]-glycine
  • [[(4-Hydroxyphenyl)acetyl]amino]acetate
28116-23-6
Phenylacetyl-CoA
  • coenzyme A, S-(Benzeneacetate)
  • Phenylacetyl coenzyme A
  • Phenylacetyl-coenzyme A
  • coenzyme A, S-(Benzeneacetic acid)
  • coenzyme A, Phenylacetyl
7532-39-0
Phenylacetylglycine
  • N-Phenacetylglycine
  • N-Phenylacetylglycine
  • Phenaceturic acid
  • Phenacetylglycine
  • Phenacetate
500-98-1
genes like me logo Genes that share compounds with ESCO1: view

Transcripts for ESCO1 Gene

mRNA/cDNA for ESCO1 Gene

Unigene Clusters for ESCO1 Gene

Establishment of cohesion 1 homolog 1 (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESCO1 Gene

No ASD Table

Relevant External Links for ESCO1 Gene

GeneLoc Exon Structure for
ESCO1
ECgene alternative splicing isoforms for
ESCO1

Expression for ESCO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ESCO1 Gene

This gene is overexpressed in Fetal Liver (26.9) and Fetal heart (26.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ESCO1 Gene



Protein tissue co-expression partners for ESCO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESCO1 Gene:

ESCO1

SOURCE GeneReport for Unigene cluster for ESCO1 Gene:

Hs.464733

mRNA Expression by UniProt/SwissProt for ESCO1 Gene:

Q5FWF5-ESCO1_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, brain, liver, placenta, lung, kidney and pancreas. Highly expressed in muscle.

Evidence on tissue expression from TISSUES for ESCO1 Gene

  • Bone marrow(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ESCO1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESCO1 Gene

Orthologs for ESCO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ESCO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESCO1 34 33
  • 99.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESCO1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESCO1 34 33
  • 90.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESCO1 34 33
  • 88.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esco1 33
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Esco1 16 34 33
  • 83.51 (n)
oppossum
(Monodelphis domestica)
Mammalia ESCO1 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESCO1 34 33
  • 64.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESCO1 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esco1 34
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eco 34
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECO1 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8648 34
  • 37 (a)
OneToMany
Species where no ortholog for ESCO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESCO1 Gene

ENSEMBL:
Gene Tree for ESCO1 (if available)
TreeFam:
Gene Tree for ESCO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESCO1: view image

Paralogs for ESCO1 Gene

Paralogs for ESCO1 Gene

(1) SIMAP similar genes for ESCO1 Gene using alignment to 1 proteins:

  • ESCO1_HUMAN

Pseudogenes.org Pseudogenes for ESCO1 Gene

genes like me logo Genes that share paralogs with ESCO1: view

Variants for ESCO1 Gene

Sequence variations from dbSNP and Humsavar for ESCO1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000034781 -- 21,575,110(-) G/T 5_prime_UTR_variant, non_coding_transcript_variant
rs1000108002 -- 21,575,421(-) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1000148418 -- 21,541,355(-) C/T intron_variant
rs1000197900 -- 21,561,331(-) T/C intron_variant
rs1000226234 -- 21,529,631(-) T/C 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ESCO1 Gene

Variant ID Type Subtype PubMed ID
esv2561824 CNV deletion 19546169
esv29974 CNV loss 17803354
esv3641938 CNV gain 21293372

Variation tolerance for ESCO1 Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESCO1 Gene

Human Gene Mutation Database (HGMD)
ESCO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESCO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESCO1 Gene

Disorders for ESCO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ESCO1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
roberts syndrome
  • rbs
nail disorder, nonsyndromic congenital, 4
  • ndnc4
nail disease
  • abnormality of the nail
- elite association - COSMIC cancer census association via MalaCards
Search ESCO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESCO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ESCO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESCO1 Gene

Publications for ESCO1 Gene

  1. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret ME … Jallepalli PV (Nature 2009) 3 4 22 58
  2. Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. (PMID: 15958495) Hou F … Zou H (Molecular biology of the cell 2005) 2 3 4 58
  3. Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains. (PMID: 14576321) Bellows AM … Skibbens RV (Nucleic acids research 2003) 2 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  5. Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1. (PMID: 27803161) Rivera-Colón Y … Marmorstein R (The Journal of biological chemistry 2016) 3 4 58

Products for ESCO1 Gene

Sources for ESCO1 Gene

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