Entity Details

Primary name ESCO2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ56NI9
EntryNameESCO2_HUMAN
FullNameN-acetyltransferase ESCO2
TaxID9606
Evidenceevidence at protein level
Length601
SequenceStatuscomplete
DateCreated2005-06-07
DateModified2021-06-02

Ontological Relatives

GenesESCO2

GO terms

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GOName
GO:0000785 chromatin
GO:0001741 XY body
GO:0002244 hematopoietic progenitor cell differentiation
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005721 pericentric heterochromatin
GO:0005794 Golgi apparatus
GO:0006275 regulation of DNA replication
GO:0006302 double-strand break repair
GO:0007062 sister chromatid cohesion
GO:0010369 chromocenter
GO:0016407 acetyltransferase activity
GO:0030054 cell junction
GO:0034421 post-translational protein acetylation
GO:0035861 site of double-strand break
GO:0046872 metal ion binding
GO:0071168 protein localization to chromatin

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR028005 N-acetyltransferase ESCO, zinc-fingerDomainDomain
IPR028009 N-acetyltransferase ESCO, acetyl-transferase domainDomainDomain

Diseases

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Disease IDSourceNameDescription
268300 OMIMRoberts syndrome (RBS)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). The disease is caused by variants affecting the gene represented in this entry.
269000 OMIMSC phocomelia syndrome (SCPS)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. The disease is caused by variants affecting the gene represented in this entry.