ESCO2

ESCO2
Identifiers
Aliases	ESCO2 , 2410004I17Rik, EFO2, RBS, establishment of sister chromatid cohesion N-acetyltransferase 2, EFO2p, hEFO2, JHS
External IDs	OMIM: 609353 MGI: 1919238 HomoloGene: 12432 GeneCards: ESCO2
Gene location (Human)
Chr.	Chromosome 8 (human)
End	27,812,640 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	66,071,443 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; ganglionic eminence; ; bone marrow cells; ; stromal cell of endometrium; ; rectum; ; appendix; ; duodenum; ; lymph node; ; smooth muscle tissue;
	Top expressed in
	hand; ; spermatogonium; ; secondary oocyte; ; morula; ; blastocyst; ; dermis; ; medial ganglionic eminence; ; thymus; ; abdominal wall; ; cumulus cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity ; acyltransferase activity ; metal ion binding ; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor ; N-acetyltransferase activity ; acetyltransferase activity ;
Cellular component	site of double-strand break ; XY body ; chromocenter ; chromatin ; Golgi apparatus ; nucleus ; nucleoplasm ; cell junction ; chromosome ;
Biological process	chromosome segregation ; post-translational protein acetylation ; cell cycle ; protein localization to chromatin ; double-strand break repair ; hematopoietic progenitor cell differentiation ; regulation of DNA replication ; sister chromatid cohesion ;
	Sources:Amigo / QuickGO
Orthologs
	157570
	71988
	ENSG00000171320
	ENSMUSG00000022034
	Q56NI9
	Q8CIB9
	NM_001017420
	NM_028039
	NP_001017420
	NP_082315
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated February 20, 2024

N-acetyltransferase ESCO2, also known as establishment of cohesion 1 homolog 2 or ECO1 homolog 2, is an enzyme that in humans is encoded by the ESCO2 gene.^[5]^[6]^[7]

Function

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 the cell cycle.^[5]

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome.^[8]

Related Research Articles

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Sister chromatid cohesion refers to the process by which sister chromatids are paired and held together during certain phases of the cell cycle. Establishment of sister chromatid cohesion is the process by which chromatin-associated cohesin protein becomes competent to physically bind together the sister chromatids. In general, cohesion is established during S phase as DNA is replicated, and is lost when chromosomes segregate during mitosis and meiosis. Some studies have suggested that cohesion aids in aligning the kinetochores during mitosis by forcing the kinetochores to face opposite cell poles.

<span class="mw-page-title-main">ESCO1</span> Protein-coding gene in the species Homo sapiens

Establishment of sister chromatid cohesion N-acetyltransferase 1 is a protein that in humans is encoded by the ESCO1 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000171320 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022034 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".
↑ Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H (May 2005). "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion" (PDF). Nat. Genet. 37 (5): 468–70. doi:10.1038/ng1548. PMID 15821733. S2CID 22948986.
↑ Hou F, Zou H (August 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Mol. Biol. Cell. 16 (8): 3908–18. doi:10.1091/mbc.E04-12-1063. PMC 1182326 . PMID 15958495.
↑ Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW (July 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Hum. Mol. Genet. 17 (14): 2172–80. doi: 10.1093/hmg/ddn116 . PMID 18411254.

External links

GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171320 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022034 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".

[pmid15821733-6] Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H (May 2005). "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion" (PDF). Nat. Genet. 37 (5): 468–70. doi:10.1038/ng1548. PMID 15821733. S2CID 22948986.

[pmid15958495-7] Hou F, Zou H (August 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Mol. Biol. Cell. 16 (8): 3908–18. doi:10.1091/mbc.E04-12-1063. PMC 1182326 . PMID 15958495.

[pmid18411254-8] Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW (July 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Hum. Mol. Genet. 17 (14): 2172–80. doi: 10.1093/hmg/ddn116 . PMID 18411254.

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ESCO2

Contents

Function

Clinical significance

See also

Related Research Articles

References

Further reading

External links