esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: esco2provided by ZNC
Official Full Name: establishment of sister chromatid cohesion N-acetyltransferase 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-050913-156
See related: Ensembl:ENSDARG00000014685 AllianceGenome:ZFIN:ZDB-GENE-050913-156
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:111795; si:dkey-217m5.6
Summary: Predicted to enable peptide-lysine-N-acetyltransferase activity. Acts upstream of or within several processes, including bone regeneration; fin regeneration; and positive regulation of cysteine-type endopeptidase activity involved in apoptotic process. Predicted to be located in chromatin. Predicted to be active in nucleus. Is expressed in digestive system; heart; nervous system; otic vesicle; and pectoral fin. Used to study Roberts syndrome. Human ortholog(s) of this gene implicated in Roberts syndrome and lung adenocarcinoma. Orthologous to human ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 20

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (39344889..39359154)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (39441820..39456326)

Chromosome 20 - NC_007131.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

esco2 is upregulated during fin regeneration. esco2 knockdown adversely affects tissue and bone growth in regenerating fins-consistent with role in skeletal morphogenesis. knockdown diminishes cx43 expression which is required for cell-cell communication
Title: Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.
This study reveals the dramatic rescue effects of L-leucine stimulation of mTORC1 in RBS cells and supports that normal gene expression and translation requires ESCO2 function.
Title: Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.
although many cells required Esco2 to establish cohesion, 10-20% of cells had only weakened cohesion in the absence of Esco2, suggesting that compensatory cohesion mechanisms exist in these cells that undergo a normal mitotic division.
Title: Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome.
Esco2 depleted zebrafish embryos exhibit features that resemble Roberts Syndrome, including mitotic defects, craniofacial abnormalities and limb truncations.
Title: A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.

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General gene information

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Markers

G39657 (e-PCR)
- UniSTS:36162

fc86a08.x1 (e-PCR)
- UniSTS:194673

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables acetyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide-lysine-N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fin regeneration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fin regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA replication	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetyltransferase ESCO2

Names: ECO1 homolog 2; establishment of cohesion 1 homolog 2; un-named hi2865; unm hi2865

NP_001003872.1

EC 2.3.1.-

XP_005160875.1

EC 2.3.1.-

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_001003872.1 → NP_001003872.1 N-acetyltransferase ESCO2

See identical proteins and their annotated locations for NP_001003872.1

Status: PROVISIONAL

Source sequence(s)

AY648804

UniProtKB/Swiss-Prot

Q4V9K9, Q5SPR8, Q6DRF5

Related

ENSDARP00000002535.7, ENSDART00000009164.8

Conserved Domains (3) summary

pfam13878
Location:379 → 418

zf-C2H2_3; zinc-finger of acetyl-transferase ESCO

pfam13880
Location:537 → 599

Acetyltransf_13; ESCO1/2 acetyl-transferase

pfam15390
Location:42 → 231

DUF4613; Domain of unknown function (DUF4613)

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007131.7 Reference GRCz11 Primary Assembly

Range

39344889..39359154

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005160818.4 → XP_005160875.1 N-acetyltransferase ESCO2 isoform X1

UniProtKB/Swiss-Prot

Q4V9K9, Q5SPR8, Q6DRF5

UniProtKB/TrEMBL

A0A8M2B7P6

Conserved Domains (3) summary

pfam13878
Location:378 → 417

zf-C2H2_3; zinc-finger of acetyl-transferase ESCO

pfam13880
Location:536 → 598

Acetyltransf_13; ESCO1/2 acetyl-transferase

pfam15390
Location:42 → 231

DUF4613; Domain of unknown function (DUF4613)