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

    Gene ID: 114799, updated on 10-Dec-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, Dec 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

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    See ESCO1 in Genome Data Viewer
    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_000018.10Genomic 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. 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
    2. 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
    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 Acetylates Cohesin via a Mechanism Different from That of Esco2. Minamino M, et al. Curr Biol, 2015 Jun 29. PMID 26051894
    5. Sister Chromatid Cohesion Establishment Factor ESCO1 Operates by Substrate-Assisted Catalysis. Kouznetsova E, et al. Structure, 2016 May 3. PMID 27112597

    See all (39) 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)

    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 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)

    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_2024_08

    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, ENST00000383276.2

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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