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2024-04-19 06:31:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_052911 4499 bp mRNA linear PRI 08-JUN-2013
DEFINITION Homo sapiens establishment of sister chromatid cohesion
N-acetyltransferase 1 (ESCO1), mRNA.
ACCESSION NM_052911 XM_056302
VERSION NM_052911.2 GI:116235477
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4499)
AUTHORS Choi,H.K., Kim,B.J., Seo,J.H., Kang,J.S., Cho,H. and Kim,S.T.
TITLE Cohesion establishment factor, Eco1 represses transcription via
association with histone demethylase, LSD1
JOURNAL Biochem. Biophys. Res. Commun. 394 (4), 1063-1068 (2010)
PUBMED 20331966
REMARK GeneRIF: this is the first evidence that Eco1 represses
transcription by interacting with histone demethylase, LSD1 to
convert chromatin to inactive state.
REFERENCE 2 (bases 1 to 4499)
AUTHORS Terret,M.E., Sherwood,R., Rahman,S., Qin,J. and Jallepalli,P.V.
TITLE Cohesin acetylation speeds the replication fork
JOURNAL Nature 462 (7270), 231-234 (2009)
PUBMED 19907496
REFERENCE 3 (bases 1 to 4499)
AUTHORS Luedeke,M., Linnert,C.M., Hofer,M.D., Surowy,H.M., Rinckleb,A.E.,
Hoegel,J., Kuefer,R., Rubin,M.A., Vogel,W. and Maier,C.
TITLE Predisposition for TMPRSS2-ERG fusion in prostate cancer by
variants in DNA repair genes
JOURNAL Cancer Epidemiol. Biomarkers Prev. 18 (11), 3030-3035 (2009)
PUBMED 19861517
REMARK GeneRIF: Variants in ESCO1 is associated with predisposition for
TMPRSS2-ERG fusion in prostate cancer.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 4499)
AUTHORS Enjuanes,A., Benavente,Y., Bosch,F., Martin-Guerrero,I.,
Colomer,D., Perez-Alvarez,S., Reina,O., Ardanaz,M.T., Jares,P.,
Garcia-Orad,A., Pujana,M.A., Montserrat,E., de Sanjose,S. and
Campo,E.
TITLE Genetic variants in apoptosis and immunoregulation-related genes
are associated with risk of chronic lymphocytic leukemia
JOURNAL Cancer Res. 68 (24), 10178-10186 (2008)
PUBMED 19074885
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 4499)
AUTHORS Zhang,J., Shi,X., Li,Y., Kim,B.J., Jia,J., Huang,Z., Yang,T.,
Fu,X., Jung,S.Y., Wang,Y., Zhang,P., Kim,S.T., Pan,X. and Qin,J.
TITLE Acetylation of Smc3 by Eco1 is required for S phase sister
chromatid cohesion in both human and yeast
JOURNAL Mol. Cell 31 (1), 143-151 (2008)
PUBMED 18614053
REMARK GeneRIF: This study identified a molecular target for the
acetyltransferase Eco1 and revealed that Smc3 acetylation is a
conserved mechanism in regulating sister chromatid cohesion.
REFERENCE 6 (bases 1 to 4499)
AUTHORS Hou,F. and Zou,H.
TITLE Two human orthologues of Eco1/Ctf7 acetyltransferases are both
required for proper sister-chromatid cohesion
JOURNAL Mol. Biol. Cell 16 (8), 3908-3918 (2005)
PUBMED 15958495
REMARK GeneRIF: EFO1 and EFO2 are targeted to different chromosome
structures to help establish or maintain sister-chromatid cohesion
REFERENCE 7 (bases 1 to 4499)
AUTHORS Bellows,A.M., Kenna,M.A., Cassimeris,L. and Skibbens,R.V.
TITLE Human EFO1p exhibits acetyltransferase activity and is a unique
combination of linker histone and Ctf7p/Eco1p chromatid cohesion
establishment domains
JOURNAL Nucleic Acids Res. 31 (21), 6334-6343 (2003)
PUBMED 14576321
REMARK GeneRIF: identification of the first full-length human ortholog of
yeast Ctf7p and characterization of its enzymatic activity,
localization and novel genetic composition
REFERENCE 8 (bases 1 to 4499)
AUTHORS Fallone,C.A.
TITLE Epidemiology of the antibiotic resistance of Helicobacter pylori in
Canada
JOURNAL Can. J. Gastroenterol. 14 (10), 879-882 (2000)
PUBMED 11111111
REMARK Review article
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BG492713.1, AB067498.1, BC089426.1 and AK096746.1.
On Oct 17, 2006 this sequence version replaced gi:40804767.
Summary: ESCO1 belongs to a conserved family of acetyltransferases
involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed
15958495]).[supplied by OMIM, Mar 2008].
##Evidence-Data-START##
Transcript exon combination :: AB067498.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025098 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-64 BG492713.1 24-87
65-2084 AB067498.1 1-2020
2085-2244 BC089426.1 1505-1664
2245-2291 AK096746.1 2247-2293
2292-4499 AB067498.1 2228-4435
FEATURES Location/Qualifiers
source 1..4499
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q11.2"
gene 1..4499
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/note="establishment of sister chromatid cohesion
N-acetyltransferase 1"
/db_xref="GeneID:114799"
/db_xref="HGNC:24645"
/db_xref="MIM:609674"
exon 1..110
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 111..241
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 242..347
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 348..2464
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
variation 591
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1053961"
misc_feature 860..862
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/note="upstream in-frame stop codon"
STS 930..1095
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/standard_name="RH102229"
/db_xref="UniSTS:96563"
CDS 935..3457
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/note="establishment of cohesion 1 homolog 1; EFO1p;
hEFO1; CTF7 homolog 1; ECO1 homolog 1; ESO1 homolog 1;
establishment factor-like protein 1"
/codon_start=1
/product="N-acetyltransferase ESCO1"
/protein_id="NP_443143.2"
/db_xref="GI:116235478"
/db_xref="CCDS:CCDS32800.1"
/db_xref="GeneID:114799"
/db_xref="HGNC:24645"
/db_xref="MIM:609674"
/translation="
MMSIQEKSKENSSKVTKKSDDKNSETEIQDSQKNLAKKSGPKETIKSQAKSSSESKINQPELETRMSTRSSKAASNDKATKSINKNTVTVRGYSQESTKKKLSQKKLVHENPKANEQLNRRSQRLQQLTEVSRRSLRSREIQGQVQAVKQSLPPTKKEQCSSTQSKSNKTSQKHVKRKVLEVKSDSKEDENLVINEVINSPKGKKRKVEHQTACACSSQCTQGSEKCPQKTTRRDETKPVPVTSEVKRSKMATSVVPKKNEMKKSVHTQVNTNTTLPKSPQPSVPEQSDNELEQAGKSKRGSILQLCEEIAGEIESDNVEVKKESSQMESVKEEKPTEIKLEETSVERQILHQKETNQDVQCNRFFPSRKTKPVKCILNGINSSAKKNSNWTKIKLSKFNSVQHNKLDSQVSPKLGLLRTSFSPPALEMHHPVTQSTFLGTKLHDRNITCQQEKMKEINSEEVKINDITVEINKTTERAPENCHLANEIKPSDPPLDNQMKHSFDSASNKNFSQCLESKLENSPVENVTAASTLLSQAKIDTGENKFPGSAPQQHSILSNQTSKSSDNRETPRNHSLPKCNSHLEITIPKDLKLKEAEKTDEKQLIIDAGQKRFGAVSCNVCGMLYTASNPEDETQHLLFHNQFISAVKYVGWKKERILAEYPDGRIIMVLPEDPKYALKKVDEIREMVDNDLGFQQAPLMCYSRTKTLLFISNDKKVVGCLIAEHIQWGYRVIEEKLPVIRSEEEKVRFERQKAWCCSTLPEPAICGISRIWVFSMMRRKKIASRMIECLRSNFIYGSYLSKEEIAFSDPTPDGKLFATQYCGTGQFLVYNFINGQNST
"
misc_feature 1025..1027
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1532..1534
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q5FWF5.3); phosphorylation site"
misc_feature 2168..2170
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q5FWF5.3); phosphorylation site"
misc_feature 2744..2866
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/note="zinc-finger of acetyl-transferase ESCO; Region:
zf-C2H2_3; pfam13878"
/db_xref="CDD:206049"
misc_feature 3218..3427
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/note="ESCO1/2 acetyl-transferase; Region:
Acetyltransf_13; pfam13880"
/db_xref="CDD:206051"
STS 1110..1210
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/standard_name="SHGC-57498"
/db_xref="UniSTS:66560"
STS 2074..2206
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/standard_name="RH17419"
/db_xref="UniSTS:5327"
variation 2245
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/replace="a"
/replace="g"
/db_xref="dbSNP:973730"
exon 2465..2579
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 2580..2640
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 2641..2755
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 2756..2887
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 2888..2977
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 2978..3121
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 3122..3309
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
exon 3310..4499
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/inference="alignment:Splign:1.39.8"
STS 4146..4310
/gene="ESCO1"
/gene_synonym="A930014I12Rik; CTF; ECO1; EFO1; ESO1"
/standard_name="RH102203"
/db_xref="UniSTS:96537"
ORIGIN
gcgccgcgggggaggcggcggccgcagcagaagcagctgagtgtctcctgatacccggatgtgaggcgatccgctggcgctagtctgaccctccgccaggcaaaaggaagattgtctttggctatagagtttttttttttaaagattactaaacatacaggaagtgataagaagtatcattcatcagaagcatcattcatcaatcaacttgaagaaaaaggtgatatattatttctttaaggtgctgtgtgatgtgttaagagcatattagaaggaatggttttgtctaattttcttcatgagttatggtggctgagacatcgagtctatattttggggcaaaaactaaacggcagcacaaaaggaaatctatattaatagaatattttgttgaacaaaggaggttagataagaactgcaaaccaacagactcagcaaacaaggaaagaaacgtgttagccataagacatgtttcaagtgaatcgaagtccaataactgtagacttcagaagaaaaaagttttcaaaaattttatcaaaacaggtcactgataaataactcctccagtaatagagctaggcctgaaaccaaaattaattaaaaaattaacaaaacagattgaacctgaattaaatttcttttgataaaaaaacttattaaaaataatcaaaattttcctcaaatttttattaccttgtccaaagtaaagcaagtgtcttttagcattcatgccagcttttctcatgttctaggaatgacagaaaccttacttgaagcaaactagtatttttgttgaaaatgtatatcagcatcagttaaagttgatttttcagacctgctcctcagtaataatactagctagtcagcattcacgcctaccaggacacaaaaatcctcttcaaaactactcagaaaagaaagtcattactcaggaatgatgtccattcaggagaaatcaaaagagaattcctccaaagttactaaaaaaagtgacgataagaattcagaaacagaaattcaggattctcaaaagaatctagcaaaaaaatcaggtccaaaggagactataaaatcacaggctaaatcttccagtgaaagtaaaataaatcagccagaattggaaacacgcatgagtacaaggtcatcaaaggcagcatctaatgataaagctactaaatccattaataaaaatacggtgactgtgaggggatattcacaagaatctacaaaaaagaaattatctcagaaaaaattagtacatgaaaaccctaaagcaaatgaacagcttaaccggagatcacaaaggctacaacaattaacagaggtttcaagaaggtcgttacgcagtagagaaattcagggtcaagttcaagcagttaaacagagtttgccaccaactaaaaaagagcagtgtagcagtactcagagtaaatctaataaaacaagtcaaaaacatgtgaagagaaaagtactggaagtaaagtctgactctaaagaagatgaaaatctagtaattaatgaagtaataaattctcccaaagggaaaaaacgcaaggtagaacatcagacagcttgtgcttgtagttctcaatgcacgcaaggatctgaaaagtgtcctcagaagactactagaagagacgaaacgaaacctgtgcctgtaacttctgaggtgaaaagatcaaaaatggctacttcagtggtcccgaaaaagaatgagatgaagaagtcggttcatacacaagtgaatactaacacaacactcccaaaaagtccacagccatcagtgcctgaacaaagtgataatgagctggagcaagcaggaaagagcaaacgaggtagtattctccagctctgtgaagaaattgctggtgaaattgagtcagataatgtagaggtaaaaaaggaatcttcacaaatggaaagtgtaaaggaagaaaagcccacagaaataaaattggaagagaccagtgttgaaagacaaatacttcatcagaaggaaacaaatcaggatgtgcaatgtaatcgttttttcccaagtagaaaaacaaagcctgtgaaatgtatactaaatggaataaacagctcagccaagaagaactccaactggactaaaattaaactctcaaaatttaactctgtgcagcacaataagttggactctcaagtttcccctaaattaggcttattacgaaccagtttttcaccaccagctttagaaatgcatcatccagtgactcaaagtacgtttttagggacaaagctacatgatagaaatataacttgccagcaggaaaaaatgaaagaaattaattctgaagaagtgaaaattaatgatattacagtagaaattaataaaaccacagaaagggctcctgaaaattgtcatttggccaatgagataaaaccttctgacccaccattggataatcagatgaaacattcttttgattcagcatcaaataagaatttcagccaatgtttggaatccaagctagaaaacagtccagtggaaaatgttactgctgcttcgactctgctcagtcaagcaaaaattgatacaggagagaataaatttccaggttcagctccccaacagcatagtattctcagtaaccagacatctaaaagcagtgataacagggagacaccacgaaatcattctttgcctaagtgtaattcccatttggagataacaattccaaaggacttgaaactaaaagaagcagagaaaactgatgaaaaacagttgattatagatgcaggacaaaaaagatttggagcagtttcttgtaatgtttgtggaatgctgtatacagcttcaaatccagaagatgaaacacagcatctgcttttccacaaccagtttataagtgctgttaaatatgtgggctggaagaaagaaagaattctggctgaataccctgatggcaggataataatggttcttcctgaagacccaaagtatgccctgaaaaaggttgacgagattagagagatggttgacaatgatttaggttttcaacaggctccactaatgtgctattccagaactaaaacacttctcttcatttccaatgacaaaaaagtagttggctgcctaattgcggaacatatccaatggggctacagagttatagaagagaaacttccagttatcaggtcagaagaagaaaaagtcagatttgaaaggcaaaaagcctggtgctgctcaacattaccagagcctgcaatctgcgggatcagtcgaatatgggtattcagcatgatgcgtcggaagaaaattgcttctcgcatgattgaatgcctaaggagtaactttatatatggctcatatttgagcaaagaagaaattgctttctcagatcccactcctgatggaaagctgtttgcaacacagtactgtggcactggtcaatttctggtatataattttattaatggacagaatagcacgtaaaacaaattcttgcctacaccactagaagacatctattgaagagaatggattggttgctgactttaaccaggaactagggccatttttattacaatgaactcaggactggcaacaaccatatggttgttccattttcataaaattggaaacaatgcagtaatagcttattgttttgttttttaaagaagatattttattatcttttacagaaatttatgattgatgtattttatctatagttatttagacatgtttacatgcagcagataattgttcatagtggactgaaaactaatgcaaggactatggtctcagtgataagtatattttgaagttcttaatatggaaatataccagtgtagcttggtactgtatttttttatattgatctgctgataccagtgataggcttaaagattgtattttcacagagtggaaaccaatttttttagttattgttcaaggagggtgcaatattaagtgttttggaatttgaagctaatttttaaaaggcctgaactatactttgaagaaacccctatagaaaaggaaagctccagctaaataggaagaattagaatattgagcttttttttcctgatttttctctttcctatctttgatggaaggaggaagtagaaagtggtaaagaattgaggctttccttcttggagagctgtaaatgacaagcattaggaaaggtaccctcctagattcattattctttcattctggtttcacttttaaaataaatggcaacttggcacacctaggctgttaacaaatctcaaagaggtttataaaaacgtatagaatacttggaagcaaagtatggatgactcggtatctgctttgttattcctcagaaatactgcactgagtatatgccctcattactggacttcattttgatacttgtctatccttcatagtgccctctacttttaaagggtttatatgttgaaaaactgctgtggccttttatgacctgtatataatgtagaataaaaataataaaatacttgatagctttttctaagtg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:114799 -> Molecular function: GO:0016746 [transferase activity, transferring acyl groups] evidence: IEA
GeneID:114799 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:114799 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:114799 -> Biological process: GO:0006275 [regulation of DNA replication] evidence: IMP
GeneID:114799 -> Biological process: GO:0034421 [post-translational protein acetylation] evidence: IMP
GeneID:114799 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
GeneID:114799 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
by
@meso_cacase at
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