• Gene id: 114799

Gene Summary

• Gene Symbol: ESCO1   Gene   UCSC   Ensembl
• Aliases: A930014I12Rik, CTF, ECO1, EFO1, ESO1
• Gene name: establishment of sister chromatid cohesion N-acetyltransferase 1
• Alternate names: N-acetyltransferase ESCO1, CTF7 homolog 1, ECO1 homolog 1, EFO1p, ESO1 homolog 1, N-acetyltransferase ESCO1 variant 2, establishment factor-like protein 1, establishment of cohesion 1 homolog 1, hEFO1,
• Gene location: 18q11.2 (21600735: 21529280)     Exons: 13     NC_000018.10
• Gene summary(Entrez): ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]
• OMIM: 609674

Protein Summary

• Protein general information: Q5FWF5  
  • Name: N acetyltransferase ESCO1 (EC 2.3.1. ) (CTF7 homolog 1) (Establishment factor like protein 1) (EFO1) (EFO1p) (hEFO1) (Establishment of cohesion 1 homolog 1) (ECO1 homolog 1) (ESO1 homolog 1)
  • Length: 840  
  • Mass: 94983
  • Tissue specificity: Widely expressed. Expressed in heart, brain, liver, placenta, lung, kidney and pancreas. Highly expressed in muscle. {ECO
• Sequence:

  MMSIQEKSKENSSKVTKKSDDKNSETEIQDSQKNLAKKSGPKETIKSQAKSSSESKINQPELETRMSTRSSKAAS
  NDKATKSINKNTVTVRGYSQESTKKKLSQKKLVHENPKANEQLNRRSQRLQQLTEVSRRSLRSREIQGQVQAVKQ
  SLPPTKKEQCSSTQSKSNKTSQKHVKRKVLEVKSDSKEDENLVINEVINSPKGKKRKVEHQTACACSSQCTQGSE
  KCPQKTTRRDETKPVPVTSEVKRSKMATSVVPKKNEMKKSVHTQVNTNTTLPKSPQPSVPEQSDNELEQAGKSKR
  GSILQLCEEIAGEIESDNVEVKKESSQMESVKEEKPTEIKLEETSVERQILHQKETNQDVQCNRFFPSRKTKPVK
  CILNGINSSAKKNSNWTKIKLSKFNSVQHNKLDSQVSPKLGLLRTSFSPPALEMHHPVTQSTFLGTKLHDRNITC
  QQEKMKEINSEEVKINDITVEINKTTERAPENCHLANEIKPSDPPLDNQMKHSFDSASNKNFSQCLESKLENSPV
  ENVTAASTLLSQAKIDTGENKFPGSAPQQHSILSNQTSKSSDNRETPRNHSLPKCNSHLEITIPKDLKLKEAEKT
  DEKQLIIDAGQKRFGAVSCNVCGMLYTASNPEDETQHLLFHNQFISAVKYVGWKKERILAEYPDGRIIMVLPEDP
  KYALKKVDEIREMVDNDLGFQQAPLMCYSRTKTLLFISNDKKVVGCLIAEHIQWGYRVIEEKLPVIRSEEEKVRF
  ERQKAWCCSTLPEPAICGISRIWVFSMMRRKKIASRMIECLRSNFIYGSYLSKEEIAFSDPTPDGKLFATQYCGT
  GQFLVYNFINGQNST

• Structural information:
  • Interpro: IPR026656  IPR028005  IPR028009  
  • PDB: 4MXE 5T53
  • PDBsum: 4MXE 5T53
  • DIP: 56674
  • STRING: ENSP00000269214
• Other Databases: GeneCards:  ESCO1  Malacards:  ESCO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006275	regulation of DNA replication	IBA	biological process
GO:0034421	post-translational protein acetylation	IBA	biological process
GO:0007062	sister chromatid cohesion	IBA	biological process
GO:0000785	chromatin	IDA	cellular component
GO:0008080	N-acetyltransferase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0018394	peptidyl-lysine acetylation	IDA	biological process
GO:0061733	peptide-lysine-N-acetyltransferase activity	IDA	molecular function
GO:0034421	post-translational protein acetylation	IMP	biological process
GO:0034421	post-translational protein acetylation	IMP	biological process
GO:0006275	regulation of DNA replication	IMP	biological process
GO:0007062	sister chromatid cohesion	IEA	biological process
GO:0034421	post-translational protein acetylation	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0006275	regulation of DNA replication	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0005694	chromosome	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)