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Q56NI9

- ESCO2_HUMAN

UniProt

Q56NI9 - ESCO2_HUMAN

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Protein

N-acetyltransferase ESCO2

Gene

ESCO2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Acetyltransferase required for the establishment of sister chromatid cohesion. Couples 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 the S phase. Acetylates the cohesin component SMC3.3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri387 – 41125CCHH-typeAdd
BLAST

GO - Molecular functioni

  1. lysine N-acetyltransferase activity, acting on acetyl phosphate as donor Source: Ensembl
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. chromosome segregation Source: Ensembl
  2. double-strand break repair Source: Ensembl
  3. hematopoietic progenitor cell differentiation Source: Ensembl
  4. mitotic cell cycle Source: Reactome
  5. post-translational protein acetylation Source: UniProtKB
  6. protein localization to chromatin Source: Ensembl
  7. regulation of DNA replication Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Cell cycle

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_150266. Establishment of Sister Chromatid Cohesion.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetyltransferase ESCO2 (EC:2.3.1.-)
Alternative name(s):
Establishment of cohesion 1 homolog 2
Short name:
ECO1 homolog 2
Gene namesi
Name:ESCO2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:27230. ESCO2.

Subcellular locationi

Nucleus 1 Publication. Chromosome 1 Publication

GO - Cellular componenti

  1. chromatin Source: UniProtKB
  2. chromocenter Source: Ensembl
  3. Golgi apparatus Source: HPA
  4. nuclear pericentric heterochromatin Source: Ensembl
  5. nucleoplasm Source: Reactome
  6. nucleus Source: HPA
  7. site of double-strand break Source: Ensembl
  8. XY body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Roberts syndrome (RBS) [MIM:268300]: Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti539 – 5391W → G in RBS. 1 Publication
VAR_022649
SC phocomelia syndrome (SCPS) [MIM:269000]: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi268300. phenotype.
269000. phenotype.
Orphaneti3103. Roberts syndrome.
PharmGKBiPA134891970.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 601601N-acetyltransferase ESCO2PRO_0000074542Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei29 – 291Phosphoserine1 Publication
Modified residuei75 – 751Phosphoserine2 Publications
Modified residuei244 – 2441Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ56NI9.
PaxDbiQ56NI9.
PRIDEiQ56NI9.

PTM databases

PhosphoSiteiQ56NI9.

Expressioni

Tissue specificityi

Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small intestine.1 Publication

Gene expression databases

BgeeiQ56NI9.
CleanExiHS_ESCO2.
ExpressionAtlasiQ56NI9. baseline and differential.
GenevestigatoriQ56NI9.

Organism-specific databases

HPAiHPA053679.

Interactioni

Protein-protein interaction databases

BioGridi127605. 11 interactions.
IntActiQ56NI9. 1 interaction.
STRINGi9606.ENSP00000306999.

Structurei

3D structure databases

ProteinModelPortaliQ56NI9.
SMRiQ56NI9. Positions 532-559.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the acetyltransferase family. ECO subfamily.Curated

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri387 – 41125CCHH-typeAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG301368.
GeneTreeiENSGT00390000008335.
HOGENOMiHOG000294103.
HOVERGENiHBG081482.
InParanoidiQ56NI9.
KOiK11268.
OMAiKIKPQVT.
OrthoDBiEOG7J9VQQ.
PhylomeDBiQ56NI9.
TreeFamiTF314027.

Family and domain databases

InterProiIPR028005. AcTrfase_ESCO_Znf_dom.
IPR028009. ESCO_Acetyltransf_dom.
[Graphical view]
PfamiPF13880. Acetyltransf_13. 1 hit.
PF13878. zf-C2H2_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q56NI9) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAALTPRKRK QDSLKCDSLL HFTENLFPSP NKKHCFYQNS DKNEENLHCS
60 70 80 90 100
QQEHFVLSAL KTTEINRLPS ANQGSPFKSA LSTVSFYNQN KWYLNPLERK
110 120 130 140 150
LIKESRSTCL KTNDEDKSFP IVTEKMQGKP VCSKKNNKKP QKSLTAKYQP
160 170 180 190 200
KYRHIKPVSR NSRNSKQNRV IYKPIVEKEN NCHSAENNSN APRVLSQKIK
210 220 230 240 250
PQVTLQGGAA FFVRKKSSLR KSSLENEPSL GRTQKSKSEV IEDSDVETVS
260 270 280 290 300
EKKTFATRQV PKCLVLEEKL KIGLLSASSK NKEKLIKDSS DDRVSSKEHK
310 320 330 340 350
VDKNEAFSSE DSLGENKTIS PKSTVYPIFS ASSVNSKRSL GEEQFSVGSV
360 370 380 390 400
NFMKQTNIQK NTNTRDTSKK TKDQLIIDAG QKHFGATVCK SCGMIYTASN
410 420 430 440 450
PEDEMQHVQH HHRFLEGIKY VGWKKERVVA EFWDGKIVLV LPHDPSFAIK
460 470 480 490 500
KVEDVQELVD NELGFQQVVP KCPNKIKTFL FISDEKRVVG CLIAEPIKQA
510 520 530 540 550
FRVLSEPIGP ESPSSTECPR AWQCSDVPEP AVCGISRIWV FRLKRRKRIA
560 570 580 590 600
RRLVDTLRNC FMFGCFLSTD EIAFSDPTPD GKLFATKYCN TPNFLVYNFN

S
Length:601
Mass (Da):68,307
Last modified:May 10, 2005 - v1
Checksum:iA3D10BFD486572AE
GO
Isoform 2 (identifier: Q56NI9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-352: Missing.
     581-601: GKLFATKYCNTPNFLVYNFNS → DCRRLNRYQET

Note: No experimental confirmation available.

Show »
Length:239
Mass (Da):27,500
Checksum:i054329F214C2BBAE
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801A → V.
Corresponds to variant rs4732748 [ dbSNP | Ensembl ].
VAR_033840
Natural varianti359 – 3591Q → P.
Corresponds to variant rs57479434 [ dbSNP | Ensembl ].
VAR_060994
Natural varianti539 – 5391W → G in RBS. 1 Publication
VAR_022649

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 352352Missing in isoform 2. 1 PublicationVSP_055773Add
BLAST
Alternative sequencei581 – 60121GKLFA…YNFNS → DCRRLNRYQET in isoform 2. 1 PublicationVSP_055774Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY882862 mRNA. Translation: AAX68677.1.
AK124215 mRNA. Translation: BAG54021.1.
AC104997 Genomic DNA. No translation available.
BC034641 mRNA. Translation: AAH34641.1.
CCDSiCCDS34872.1. [Q56NI9-1]
RefSeqiNP_001017420.1. NM_001017420.2. [Q56NI9-1]
XP_006716360.1. XM_006716297.1. [Q56NI9-1]
UniGeneiHs.99480.

Genome annotation databases

EnsembliENST00000305188; ENSP00000306999; ENSG00000171320. [Q56NI9-1]
ENST00000397418; ENSP00000380563; ENSG00000171320. [Q56NI9-2]
GeneIDi157570.
KEGGihsa:157570.
UCSCiuc003xgg.3. human. [Q56NI9-1]

Polymorphism databases

DMDMi67460434.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY882862 mRNA. Translation: AAX68677.1 .
AK124215 mRNA. Translation: BAG54021.1 .
AC104997 Genomic DNA. No translation available.
BC034641 mRNA. Translation: AAH34641.1 .
CCDSi CCDS34872.1. [Q56NI9-1 ]
RefSeqi NP_001017420.1. NM_001017420.2. [Q56NI9-1 ]
XP_006716360.1. XM_006716297.1. [Q56NI9-1 ]
UniGenei Hs.99480.

3D structure databases

ProteinModelPortali Q56NI9.
SMRi Q56NI9. Positions 532-559.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127605. 11 interactions.
IntActi Q56NI9. 1 interaction.
STRINGi 9606.ENSP00000306999.

PTM databases

PhosphoSitei Q56NI9.

Polymorphism databases

DMDMi 67460434.

Proteomic databases

MaxQBi Q56NI9.
PaxDbi Q56NI9.
PRIDEi Q56NI9.

Protocols and materials databases

DNASUi 157570.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000305188 ; ENSP00000306999 ; ENSG00000171320 . [Q56NI9-1 ]
ENST00000397418 ; ENSP00000380563 ; ENSG00000171320 . [Q56NI9-2 ]
GeneIDi 157570.
KEGGi hsa:157570.
UCSCi uc003xgg.3. human. [Q56NI9-1 ]

Organism-specific databases

CTDi 157570.
GeneCardsi GC08P027632.
GeneReviewsi ESCO2.
H-InvDB HIX0168881.
HGNCi HGNC:27230. ESCO2.
HPAi HPA053679.
MIMi 268300. phenotype.
269000. phenotype.
609353. gene.
neXtProti NX_Q56NI9.
Orphaneti 3103. Roberts syndrome.
PharmGKBi PA134891970.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301368.
GeneTreei ENSGT00390000008335.
HOGENOMi HOG000294103.
HOVERGENi HBG081482.
InParanoidi Q56NI9.
KOi K11268.
OMAi KIKPQVT.
OrthoDBi EOG7J9VQQ.
PhylomeDBi Q56NI9.
TreeFami TF314027.

Enzyme and pathway databases

Reactomei REACT_150266. Establishment of Sister Chromatid Cohesion.

Miscellaneous databases

GeneWikii ESCO2.
GenomeRNAii 157570.
NextBioi 87487.
PROi Q56NI9.
SOURCEi Search...

Gene expression databases

Bgeei Q56NI9.
CleanExi HS_ESCO2.
ExpressionAtlasi Q56NI9. baseline and differential.
Genevestigatori Q56NI9.

Family and domain databases

InterProi IPR028005. AcTrfase_ESCO_Znf_dom.
IPR028009. ESCO_Acetyltransf_dom.
[Graphical view ]
Pfami PF13880. Acetyltransf_13. 1 hit.
PF13878. zf-C2H2_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion."
    Vega H., Waisfisz Q., Gordillo M., Sakai N., Yanagihara I., Yamada M., van Gosliga D., Kayserili H., Xu C., Ozono K., Wang Jabs E., Inui K., Joenje H.
    Nat. Genet. 37:468-470(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT RBS GLY-539.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Thymus.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation."
    Schuele B., Oviedo A., Johnston K., Pai S., Francke U.
    Am. J. Hum. Genet. 77:1117-1128(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCPS.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75 AND SER-244, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Cohesin acetylation speeds the replication fork."
    Terret M.E., Sherwood R., Rahman S., Qin J., Jallepalli P.V.
    Nature 462:231-234(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  11. Cited for: FUNCTION.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75 AND SER-244, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiESCO2_HUMAN
AccessioniPrimary (citable) accession number: Q56NI9
Secondary accession number(s): B3KW59, Q49AP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: May 10, 2005
Last modified: October 29, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3