InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ESCO2

Summary

InnateDB Protein

IDBP-14556.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ESCO2

Protein Name

establishment of cohesion 1 homolog 2 (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000306999

InnateDB Gene

IDBG-14554 (ESCO2)

Protein Structure

UniProt Annotation

Function

Acetyltransferase required for the establishment of sister chromatid cohesion. Couples 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 the S phase. Acetylates the cohesin component SMC3. {ECO:0000269PubMed:15821733, ECO:0000269PubMed:19907496, ECO:0000269PubMed:21111234}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19907496}. Chromosome {ECO:0000269PubMed:19907496}.

Disease Associations

Roberts syndrome (RBS) [MIM:268300]: Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect). {ECO:0000269PubMed:15821733}. Note=The disease is caused by mutations affecting the gene represented in this entry.SC phocomelia syndrome (SCPS) [MIM:269000]: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common. {ECO:0000269PubMed:16380922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small intestine. {ECO:0000269PubMed:15821733}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004468	lysine N-acetyltransferase activity
GO:0016746	transferase activity, transferring acyl groups
GO:0046872	metal ion binding

Biological Process

GO:0000278	mitotic cell cycle
GO:0002244	hematopoietic progenitor cell differentiation
GO:0006275	regulation of DNA replication
GO:0006302	double-strand break repair
GO:0007059	chromosome segregation
GO:0034421	post-translational protein acetylation
GO:0071168	protein localization to chromatin

Cellular Component

GO:0000785	chromatin
GO:0001741	XY body
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005794	Golgi apparatus
GO:0010369	chromocenter
GO:0031618	nuclear centromeric heterochromatin
GO:0035861	site of double-strand break