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ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 114799, updated on 7-Apr-2024

Summary

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Official Symbol
ESCO1provided by HGNC
Official Full Name
establishment of sister chromatid cohesion N-acetyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:24645
See related
Ensembl:ENSG00000141446 MIM:609674; AllianceGenome:HGNC:24645
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTF; ECO1; EFO1; ESO1; A930014I12Rik
Summary
Enables identical protein binding activity; peptide-lysine-N-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 14.5), bone marrow (RPKM 6.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ESCO1 in Genome Data Viewer
Location:
18q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21529284..21600704, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21714377..21786047, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19109245..19180665, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene GREB1L divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:18842887-18843414 Neighboring gene GREB1 like retinoic acid receptor coactivator Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:18922270-18922868 Neighboring gene uncharacterized LOC101927521 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:18966717-18967517 Neighboring gene NANOG hESC enhancer GRCh37_chr18:18970956-18971808 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:18981989-18982490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:18982491-18982990 Neighboring gene small nucleolar RNA SNORD23 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:19171613-19172342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:19173073-19173800 Neighboring gene Sharpr-MPRA regulatory region 3945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13136 Neighboring gene MPRA-validated peak3065 silencer Neighboring gene small nuclear ribonucleoprotein D1 polypeptide Neighboring gene MPRA-validated peak3066 silencer Neighboring gene abhydrolase domain containing 3, phospholipase Neighboring gene microRNA 320c-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Increased expression of ESCO1 is correlated with poor patient survival and its role in human bladder cancer. Zhang S, et al. Tumour Biol, 2016 Apr. PMID 26547586
  2. Cohesin recruits the Esco1 acetyltransferase genome wide to repress transcription and promote cohesion in somatic cells. Rahman S, et al. Proc Natl Acad Sci U S A, 2015 Sep 8. PMID 26305936, Free PMC Article
  3. Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains. Bellows AM, et al. Nucleic Acids Res, 2003 Nov 1. PMID 14576321, Free PMC Article
  4. Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression. Alomer RM, et al. Proc Natl Acad Sci U S A, 2017 Sep 12. PMID 28847955, Free PMC Article
  5. Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1. Rivera-Colón Y, et al. J Biol Chem, 2016 Dec 16. PMID 27803161, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ESCO1 and CTCF enable formation of long chromatin loops by protecting cohesin(STAG1) from WAPL.
    Title: ESCO1 and CTCF enable formation of long chromatin loops by protecting cohesin(STAG1) from WAPL.
  2. Alternative catalytic residues in the active site of Esco acetyltransferases.
    Title: Alternative catalytic residues in the active site of Esco acetyltransferases.
  3. DDX11, ESCO1 and ESCO2 control different fractions of cohesin that are spatially and mechanistically separated.
    Title: Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.
  4. Data indicate that Esco1 and Esco2 contribute to distinct and separable activities of cohesin in vertebrate cells.
    Title: Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression.
  5. these studies reveal the molecular basis for SMC3 acetylation by ESCO1 and have broader implications for understanding the structure/function of non-histone acetyltransferases.
    Title: Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1.
  6. our findings indicated that ESCO1 may play an important role in human bladder cancer, and ESCO1 might serve as a novel target and prognosis factor for human bladder cancer.
    Title: Increased expression of ESCO1 is correlated with poor patient survival and its role in human bladder cancer.
  7. By interacting with a unique domain of Esco1, Pds5 recruits Esco1 to chromatin-bound cohesin complexes to form cohesion.
    Title: Esco1 Acetylates Cohesin via a Mechanism Different from That of Esco2.
  8. Data show that acetyltransferase Esco1 colocalizes with cohesin throughout the cell cycle and down-regulates expression of neighboring genes.
    Title: Cohesin recruits the Esco1 acetyltransferase genome wide to repress transcription and promote cohesion in somatic cells.
  9. This is the first report of somatic mutations within ESCO1 and CHTF18 in endometrial tumors and of MRE11A mutations in microsatellite-stable endometrial tumors.
    Title: Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.
  10. this is the first evidence that Eco1 represses transcription by interacting with histone demethylase, LSD1 to convert chromatin to inactive state.
    Title: Cohesion establishment factor, Eco1 represses transcription via association with histone demethylase, LSD1.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1911, MGC105022

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acetyltransferase activity TAS
Traceable Author Statement
more info
  
enables acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptide-lysine-N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide-lysine-N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-lysine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in post-translational protein acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sister chromatid cohesion TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
N-acetyltransferase ESCO1
Names
CTF7 homolog 1
ECO1 homolog 1
EFO1p
ESO1 homolog 1
establishment factor-like protein 1
establishment of cohesion 1 homolog 1
hEFO1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_052911.3 → NP_443143.2  N-acetyltransferase ESCO1

    See identical proteins and their annotated locations for NP_443143.2

    Status: VALIDATED

    Source sequence(s)
    AB067498, AC011774, AK096746, BC089426, BG492713
    Consensus CDS
    CCDS32800.1
    UniProtKB/Swiss-Prot
    B0YJ11, B0YJ12, Q5FWF5, Q69YG4, Q69YS3, Q6IMD7, Q8N3Z5, Q8NBG2, Q96PX7
    Related
    ENSP00000269214.4, ENST00000269214.10
    Conserved Domains (2) summary
    pfam13878
    Location:604 → 643
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:763 → 825
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    21529284..21600704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525799.4 → XP_011524101.1  N-acetyltransferase ESCO1 isoform X2

    Conserved Domains (2) summary
    pfam13878
    Location:604 → 643
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:733 → 795
    Acetyltransf_13; ESCO1/2 acetyl-transferase

  2. XM_047437285.1 → XP_047293241.1  N-acetyltransferase ESCO1 isoform X2

  3. XM_011525798.2 → XP_011524100.1  N-acetyltransferase ESCO1 isoform X1

    See identical proteins and their annotated locations for XP_011524100.1

    UniProtKB/Swiss-Prot
    B0YJ11, B0YJ12, Q5FWF5, Q69YG4, Q69YS3, Q6IMD7, Q8N3Z5, Q8NBG2, Q96PX7
    Conserved Domains (2) summary
    pfam13878
    Location:604 → 643
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:763 → 825
    Acetyltransf_13; ESCO1/2 acetyl-transferase

  4. XM_047437286.1 → XP_047293242.1  N-acetyltransferase ESCO1 isoform X3

    Related
    ENSP00000372763.1, ENST00000383276.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    21714377..21786047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318169.1 → XP_054174144.1  N-acetyltransferase ESCO1 isoform X2

  2. XM_054318167.1 → XP_054174142.1  N-acetyltransferase ESCO1 isoform X1

  3. XM_054318168.1 → XP_054174143.1  N-acetyltransferase ESCO1 isoform X2

  4. XM_054318170.1 → XP_054174145.1  N-acetyltransferase ESCO1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5FWF5.3 GenPept UniProtKB/Swiss-Prot:Q5FWF5

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