Human Gene ESCO1 (ENST00000269214.10_7) from GENCODE V47lift37
  Description: establishment of sister chromatid cohesion N-acetyltransferase 1 (from RefSeq NM_052911.3)
Gencode Transcript: ENST00000269214.10_7
Gencode Gene: ENSG00000141446.12_10
Transcript (Including UTRs)
   Position: hg19 chr18:19,109,245-19,180,665 Size: 71,421 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr18:19,110,304-19,154,804 Size: 44,501 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:19,109,245-19,180,665)mRNA (may differ from genome)Protein (840 aa)
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-  Comments and Description Text from UniProtKB
  ID: ESCO1_HUMAN
DESCRIPTION: RecName: Full=N-acetyltransferase ESCO1; EC=2.3.1.-; AltName: Full=CTF7 homolog 1; AltName: Full=Establishment factor-like protein 1; Short=EFO1p; Short=hEFO1; AltName: Full=Establishment of cohesion 1 homolog 1; Short=ECO1 homolog 1; Short=ESO1 homolog 1;
FUNCTION: Acetyltransferase required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3.
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Nuclear at interphase, associated with chromosomes during mitosis.
TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, liver, placenta, lung, kidney and pancreas. Highly expressed in muscle.
DOMAIN: The N-terminal region seems to be responsible for the association with chromosomes, thus excluding any involvement of the Zn finger in this process.
PTM: Phosphorylated during mitosis. Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the acetyltransferase family. GCN5 subfamily.
CAUTION: It is uncertain whether Met-1 or Met-2 is the initiator.
SEQUENCE CAUTION: Sequence=AAH36943.1; Type=Miscellaneous discrepancy; Note=Wrong choice of frame; Sequence=BAB67804.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC03483.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ESCO1
Diseases sorted by gene-association score: roberts syndrome (10), anonychia congenita (9), nail disease (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.63 RPKM in Testis
Total median expression: 171.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -187.50906-0.207 Picture PostScript Text
3' UTR -266.701059-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026656 - AcTrfase_ESCO

Pfam Domains:
PF13878 - zinc-finger of acetyl-transferase ESCO
PF13880 - ESCO1/2 acetyl-transferase

ModBase Predicted Comparative 3D Structure on Q5FWF5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
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 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008080 N-acetyltransferase activity
GO:0008270 zinc ion binding
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0061733 peptide-lysine-N-acetyltransferase activity

Biological Process:
GO:0006275 regulation of DNA replication
GO:0007049 cell cycle
GO:0007062 sister chromatid cohesion
GO:0018394 peptidyl-lysine acetylation
GO:0034421 post-translational protein acetylation

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome


-  Descriptions from all associated GenBank mRNAs
  BC089426 - Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae), mRNA (cDNA clone MGC:105022 IMAGE:3090307), complete cds.
AL834200 - Homo sapiens mRNA; cDNA DKFZp762D1410 (from clone DKFZp762D1410).
AB067498 - Homo sapiens mRNA for KIAA1911 protein.
AL832041 - Homo sapiens mRNA; cDNA DKFZp313E1410 (from clone DKFZp313E1410).
AK090579 - Homo sapiens cDNA FLJ33260 fis, clone ASTRO2005896, weakly similar to DNA damage inducible protein.
AX746520 - Sequence 45 from Patent EP1308459.
BC036943 - Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae), mRNA (cDNA clone IMAGE:5397819), complete cds.
AB384322 - Synthetic construct DNA, clone: pF1KSDA1911, Homo sapiens ESCO1 gene for N-acetyltransferase ESCO1, complete cds, without stop codon, in Flexi system.
KJ900006 - Synthetic construct Homo sapiens clone ccsbBroadEn_09400 ESCO1 gene, encodes complete protein.
JD509958 - Sequence 490982 from Patent EP1572962.
JD379028 - Sequence 360052 from Patent EP1572962.
JD060379 - Sequence 41403 from Patent EP1572962.
JD267985 - Sequence 249009 from Patent EP1572962.
JD562548 - Sequence 543572 from Patent EP1572962.
JD508839 - Sequence 489863 from Patent EP1572962.
JD284152 - Sequence 265176 from Patent EP1572962.
AK096746 - Homo sapiens cDNA FLJ39427 fis, clone PROST2000567.
JD319811 - Sequence 300835 from Patent EP1572962.
JD501326 - Sequence 482350 from Patent EP1572962.
JD347505 - Sequence 328529 from Patent EP1572962.
JD309437 - Sequence 290461 from Patent EP1572962.
JD313129 - Sequence 294153 from Patent EP1572962.
JD522134 - Sequence 503158 from Patent EP1572962.
JD551849 - Sequence 532873 from Patent EP1572962.
JD248984 - Sequence 230008 from Patent EP1572962.
JD080355 - Sequence 61379 from Patent EP1572962.
JD068021 - Sequence 49045 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5FWF5 (Reactome details) participates in the following event(s):

R-HSA-2468039 Acetylation of SMC3 subunit of chromosomal arm associated cohesin by ESCO1 or ESCO2
R-HSA-2473152 Acetylation of SMC3 subunit of centromeric chromatin associated cohesin by ESCO1 or ESCO2
R-HSA-2468052 Establishment of Sister Chromatid Cohesion
R-HSA-69242 S Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJ11, B0YJ12, EFO1, ENST00000269214.1, ENST00000269214.2, ENST00000269214.3, ENST00000269214.4, ENST00000269214.5, ENST00000269214.6, ENST00000269214.7, ENST00000269214.8, ENST00000269214.9, ESCO1_HUMAN, KIAA1911, NM_052911, Q5FWF5, Q69YG4, Q69YS3, Q6IMD7, Q8N3Z5, Q8NBG2, Q96PX7, uc317iql.1, uc317iql.2
UCSC ID: ENST00000269214.10_7
RefSeq Accession: NM_052911.3
Protein: Q5FWF5 (aka ESCO1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.