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ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 157570, updated on 26-May-2016
Official Symbol
ESCO2provided by HGNC
Official Full Name
establishment of sister chromatid cohesion N-acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:27230
See related
Ensembl:ENSG00000171320 HPRD:18564; MIM:609353; Vega:OTTHUMG00000163901
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RBS; EFO2; 2410004I17Rik
Summary
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
Orthologs
Location:
8p21.1
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (27771477..27812396)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27632057..27670141)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene microRNA 6843 Neighboring gene clusterin Neighboring gene scavenger receptor class A member 3 Neighboring gene microRNA 3622b Neighboring gene microRNA 3622a Neighboring gene coiled-coil domain containing 25 Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene PDZ binding kinase Neighboring gene scavenger receptor class A member 5 Neighboring gene microRNA 4287

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Establishment of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Establishment of Sister Chromatid Cohesion, organism-specific biosystemThe cohesin complex loads onto chromatin in telophase, but its association with chromatin remains transient, dynamic until the S-phase of the cell cycle, presumably because the cohesin-bound NIPBL:MA...
  • S Phase, organism-specific biosystem (from REACTOME)
    S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
post-translational protein acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to chromatin IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
XY body IEA
Inferred from Electronic Annotation
more info
 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
chromocenter IEA
Inferred from Electronic Annotation
more info
 
nuclear pericentric heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
site of double-strand break IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
N-acetyltransferase ESCO2
Names
ECO1 homolog 2
NP_001017420.1

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.

Genomic

  1. NG_008117.1 RefSeqGene

    Range
    5001..35368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017420.2NP_001017420.1  N-acetyltransferase ESCO2

    See identical proteins and their annotated locations for NP_001017420.1

    Status: REVIEWED

    Source sequence(s)
    AF306679, AY882862
    Consensus CDS
    CCDS34872.1
    UniProtKB/Swiss-Prot
    Q56NI9
    Related
    ENSP00000306999, OTTHUMP00000225318, ENST00000305188, OTTHUMT00000376276
    Conserved Domains (2) summary
    pfam13878
    Location:374414
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:528597
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    27771477..27812396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544421.1XP_011542723.1  

    See identical proteins and their annotated locations for XP_011542723.1

    UniProtKB/Swiss-Prot
    Q56NI9
    Conserved Domains (2) summary
    pfam13878
    Location:374414
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:528597
    Acetyltransf_13; ESCO1/2 acetyl-transferase
  2. XM_011544422.1XP_011542724.1  

    Conserved Domains (2) summary
    pfam13878
    Location:374414
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:528591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RNA

  1. XR_949378.1 RNA Sequence

  2. XR_949379.1 RNA Sequence

    Related
    ENST00000522378, OTTHUMT00000376277

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    27833977..27864365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)