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

Summary

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, Nov 2024]
Expression: Broad expression in testis (RPKM 14.5), bone marrow (RPKM 6.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (21529284..21600704, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (21714377..21786047, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (19109245..19180665, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Alternative catalytic residues in the active site of Esco acetyltransferases.
Title: Alternative catalytic residues in the active site of Esco acetyltransferases.
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.
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.
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.
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.
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.
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.
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.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57498 (e-PCR)
- UniSTS:66560

RH102203 (e-PCR)
- UniSTS:96537

RH102229 (e-PCR)
- UniSTS:96563

SHGC-152381 (e-PCR)
- UniSTS:177494

D18S1104 (e-PCR), detects polymorphism
- UniSTS:43199

RH17419 (e-PCR)
- UniSTS:5327

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 identical protein binding	IPI Inferred from Physical Interaction 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
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in 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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

21529284..21600704 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047437285.1 → XP_047293241.1 N-acetyltransferase ESCO1 isoform X2
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
XM_047437286.1 → XP_047293242.1 N-acetyltransferase ESCO1 isoform X3

Related

ENSP00000372763.1, ENST00000383276.2