ESCO1 (establishment of sister chromatid cohesion N-acetyltransferase 1)

2008-07-01  

Identity

HGNC
ESCO1
LOCATION
18q11.2
LOCUSID
114799
ALIAS
A930014I12Rik,CTF,ECO1,EFO1,ESO1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114799
MIM: 609674
HGNC: 24645
Ensembl: ENSG00000141446

Variants:

dbSNP: 114799
ClinVar: 114799
TCGA: ENSG00000141446
COSMIC: ESCO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141446ENST00000269214Q5FWF5
ENSG00000141446ENST00000269214A0A024RC19
ENSG00000141446ENST00000383276Q5FWF5
ENSG00000141446ENST00000622333A0A0C4DH04

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Establishment of Sister Chromatid CohesionREACTOMER-HSA-2468052

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186140532008Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast.170
159584952005Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion.86
198615172009Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.26
198615172009Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.26
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.25
260518942015Esco1 Acetylates Cohesin via a Mechanism Different from That of Esco2.25
145763212003Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains.20
288479552017Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression.20
263059362015Cohesin recruits the Esco1 acetyltransferase genome wide to repress transcription and promote cohesion in somatic cells.16
237551032014Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.15

Citation

Dessen P

ESCO1 (establishment of sister chromatid cohesion N-acetyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50238/esco1