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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
  • A930014I12Rik 3
  • EC 2.3.1.- 4
  • KIAA1911 4
  • ESO1 3
  • ECO1 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 anonychia congenita and roberts syndrome. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. 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.

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

Genomics for ESCO1 Gene

Regulatory Elements for ESCO1 Gene

Promoters for ESCO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ESCO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ESCO1 Gene

Chromosome:
18
Start:
21,529,281 bp from pter
End:
21,600,884 bp from pter
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:
    No Data Available
    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

Proteomics data for ESCO1 Gene at MOPED

Post-translational modifications for ESCO1 Gene

Other Protein References for ESCO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ESCO1 Gene

Domains & Families for ESCO1 Gene

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

No data available for Gene Families for ESCO1 Gene

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.

Enzyme Numbers (IUBMB) 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 --
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:

Animal Model Products

CRISPR 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
Jensen Localization Image for ESCO1 Gene COMPARTMENTS Subcellular localization image for ESCO1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components 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
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
  • 1-(Dihydrogen phosphate) Glycerol
  • 1-Glycerophosphate
  • 1-Glycerophosphorate
  • 1-Glycerophosphoric acid
  • 3-Glycerophosphate
57-03-4
Hydroxyphenylacetylglycine
  • 4-Hydroxyphenylacetylglycine
  • N-[(4-Hydroxyphenyl)acetyl]-Glycine
  • N-[(p-Hydroxyphenyl)acetyl]-Glycine
  • p-Hydroxyphenylacetylglycine
  • [[(4-Hydroxyphenyl)acetyl]amino]acetate
28116-23-6
Phenylacetyl-CoA
7532-39-0
Phenylacetylglycine
  • ((phenylacetyl)amino)acetic acid
  • N-(Phenylacetyl)-Glycine
  • N-(Phenylacetyl)glycine
  • N-Phenacetylglycine
  • N-Phenylacetylglycine
500-98-1
genes like me logo Genes that share compounds with ESCO1: view

Transcripts for ESCO1 Gene

Unigene Clusters for ESCO1 Gene

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

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 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, PaxDb, and MOPED for ESCO1 Gene



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.
genes like me logo Genes that share expression patterns with ESCO1: view

Protein tissue co-expression partners for ESCO1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ESCO1 35
  • 88.65 (n)
  • 85.25 (a)
ESCO1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESCO1 35
  • 90.15 (n)
  • 86.77 (a)
ESCO1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esco1 35
  • 83.51 (n)
  • 76.58 (a)
Esco1 16
Esco1 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESCO1 35
  • 99.6 (n)
  • 99.29 (a)
ESCO1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esco1 35
  • 84.29 (n)
  • 78.71 (a)
oppossum
(Monodelphis domestica)
Mammalia ESCO1 36
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESCO1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESCO1 35
  • 64.39 (n)
  • 58.4 (a)
ESCO1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESCO1 36
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esco1 36
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eco 36
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECO1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8648 36
  • 37 (a)
OneToMany
Species with no ortholog for ESCO1:
  • 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)

Paralogs for ESCO1 Gene

Paralogs for ESCO1 Gene

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

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 Sequence Context AA Info Type
rs13381941 - 21,574,182(+) CTTGC(A/G)TGCAT nc-transcript-variant, reference, missense
rs35087820 - 21,574,272(+) CTAGA(C/T)TTTCA nc-transcript-variant, reference, missense
rs960359 -- 21,580,202(+) ccccc(A/C)aaaat intron-variant
rs964300 -- 21,542,026(+) ATGCC(A/G)AAATT intron-variant
rs971039 -- 21,575,550(-) ACTGA(C/T)TAGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv909448 CNV Gain 21882294
nsv909449 CNV Gain 21882294
esv2561824 CNV Deletion 19546169
esv29974 CNV Loss 17803354

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)

Relevant External Links for ESCO1 Gene

HapMap Linkage Disequilibrium report
ESCO1
Human Gene Mutation Database (HGMD)
ESCO1

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: DISEASES

Disorder Aliases PubMed IDs
anonychia congenita
  • hyponychia congenita
roberts syndrome
  • long bone deficiencies associated with cleft lip-palate
nail disease
  • nail diseases
- elite association - COSMIC cancer census association via MalaCards
Search ESCO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESCO1

Genetic Association Database (GAD)
ESCO1
Human Genome Epidemiology (HuGE) Navigator
ESCO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESCO1
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. Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. (PMID: 15958495) Hou F. … Zou H. (Mol. Biol. Cell 2005) 2 3 4 67
  2. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret M.E. … Jallepalli P.V. (Nature 2009) 3 23
  3. Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains. (PMID: 14576321) Bellows A.M. … Skibbens R.V. (Nucleic Acids Res. 2003) 2 3
  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 Res. 2001) 2 3
  5. Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A. (PMID: 23755103) Price J.C. … Bell D.W. (PLoS ONE 2014) 3

Products for ESCO1 Gene

Sources for ESCO1 Gene

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