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Protein

BRCA2-interacting transcriptional repressor EMSY

Gene

EMSY

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

Functioni

Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.2 Publications

Miscellaneous

Defects in EMSY may be a cause of sporadic breast cancer and higher-grade ovarian cancers. Overexpressed through amplification almost exclusively in sporadic breast cancer (13%) and higher-grade ovarian cancer (17%). Amplification is associated with worse survival, particularly in node-negative breast cancer, suggesting that it may be of prognostic value.
Was named EMSY by PubMed:14651845 because the protein sequence contains the word 'SISTER', after the first author's sister, who is a breast cancer nurse.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, Repressor
Biological processDNA damage, DNA repair, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
BRCA2-interacting transcriptional repressor EMSYImported
Gene namesi
Name:EMSYImported
Synonyms:C11orf30
ORF Names:GL002
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000158636.16
HGNCiHGNC:18071 EMSY
MIMi608574 gene
neXtProtiNX_Q7Z589

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi100 – 102VPL → APA: Abolishes interaction with CBX1. 1 Publication3
Mutagenesisi106L → A: Abolishes interaction with ZMYND11. 1 Publication1

Organism-specific databases

DisGeNETi56946
OpenTargetsiENSG00000158636
PharmGKBiPA134904392

Polymorphism and mutation databases

BioMutaiEMSY
DMDMi47605660

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000869681 – 1322BRCA2-interacting transcriptional repressor EMSYAdd BLAST1322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei207PhosphothreonineCombined sources1
Modified residuei209PhosphoserineCombined sources1
Modified residuei213PhosphoserineBy similarity1
Glycosylationi228O-linked (GlcNAc) serine1 Publication1
Glycosylationi236O-linked (GlcNAc) serine1 Publication1
Modified residuei238PhosphoserineCombined sources1
Glycosylationi271O-linked (GlcNAc) threonine1 Publication1
Glycosylationi501O-linked (GlcNAc) threonine1 Publication1
Glycosylationi506O-linked (GlcNAc) threonine1 Publication1
Glycosylationi557O-linked (GlcNAc) serine1 Publication1
Modified residuei818PhosphoserineBy similarity1
Modified residuei821PhosphoserineBy similarity1
Glycosylationi1120O-linked (GlcNAc) threonine1 Publication1
Modified residuei1136PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ7Z589
MaxQBiQ7Z589
PaxDbiQ7Z589
PeptideAtlasiQ7Z589
PRIDEiQ7Z589

PTM databases

iPTMnetiQ7Z589
PhosphoSitePlusiQ7Z589

Expressioni

Gene expression databases

BgeeiENSG00000158636
CleanExiHS_C11orf30
ExpressionAtlasiQ7Z589 baseline and differential
GenevisibleiQ7Z589 HS

Organism-specific databases

HPAiCAB012234
HPA050777

Interactioni

Subunit structurei

Homodimer. Interacts with the transactivation domain of BRCA2. Interacts with the chromoshadow domain of CBX1 and with ZMYND11. Does not interact with CBX3 or CBX5. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Interacts with ZMYND11.5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121270, 51 interactors
CORUMiQ7Z589
DIPiDIP-29099N
IntActiQ7Z589, 23 interactors
MINTiQ7Z589
STRINGi9606.ENSP00000334130

Structurei

Secondary structure

11322
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi7 – 9Combined sources3
Helixi13 – 38Combined sources26
Helixi43 – 55Combined sources13
Helixi60 – 71Combined sources12
Helixi74 – 84Combined sources11
Helixi90 – 97Combined sources8
Beta strandi98 – 103Combined sources6
Helixi108 – 110Combined sources3
Beta strandi112 – 116Combined sources5
Beta strandi122 – 124Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UTUX-ray2.00A/B1-108[»]
1UZ3X-ray1.10A/B1-100[»]
2FMMX-ray1.80E9-139[»]
ProteinModelPortaliQ7Z589
SMRiQ7Z589
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ7Z589

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 100ENTPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 478Interaction with BRCA21 PublicationAdd BLAST478
Regioni104 – 108Interaction with ZMYND115

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi209 – 213Poly-Ser5
Compositional biasi326 – 391Ser-richAdd BLAST66
Compositional biasi395 – 464Gln-richAdd BLAST70
Compositional biasi496 – 636Thr-richAdd BLAST141
Compositional biasi719 – 723Poly-Ser5
Compositional biasi945 – 1099Gln-richAdd BLAST155

Phylogenomic databases

eggNOGiKOG4675 Eukaryota
ENOG410YF3T LUCA
GeneTreeiENSGT00390000009554
HOGENOMiHOG000112366
HOVERGENiHBG051476
InParanoidiQ7Z589
OMAiTQATYTR
OrthoDBiEOG091G04O2
PhylomeDBiQ7Z589
TreeFamiTF332401

Family and domain databases

InterProiView protein in InterPro
IPR033482 EMSY
IPR005491 ENT_dom
IPR036142 ENT_dom-like_sf
PANTHERiPTHR16500 PTHR16500, 1 hit
PfamiView protein in Pfam
PF03735 ENT, 1 hit
SMARTiView protein in SMART
SM01191 ENT, 1 hit
SUPFAMiSSF158639 SSF158639, 1 hit
PROSITEiView protein in PROSITE
PS51138 ENT, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z589-1) [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
MPVVWPTLLD LSRDECKRIL RKLELEAYAG VISALRAQGD LTKEKKDLLG
60 70 80 90 100
ELSKVLSIST ERHRAEVRRA VNDERLTTIA HNMSGPNSSS EWSIEGRRLV
110 120 130 140 150
PLMPRLVPQT AFTVTANAVA NAAIQHNASL PVPAETGSKE VVCYSYTSTT
160 170 180 190 200
STPTSTPVPS GSIATVKSPR PASPASNVVV LPSGSTVYVK SVSCSDEDEK
210 220 230 240 250
PRKRRRTNSS SSSPVVLKEV PKAVVPVSKT ITVPVSGSPK MSNIMQSIAN
260 270 280 290 300
SLPPHMSPVK ITFTKPSTQT TNTTTQKVII VTTSPSSTFV PNILSKSHNY
310 320 330 340 350
AAVTKLVPTS VIASTTQKPP VVITASQSSL VSNSSSGSSS STPSPIPNTV
360 370 380 390 400
AVTAVVSSTP SVVMSTVAQG VSTSAIKMAS TRLPSPKSLV SAPTQILAQF
410 420 430 440 450
PKQHQQSPKQ QLYQVQQQTQ QQVAQPSPVS HQQQPQQSPL PPGIKPTIQI
460 470 480 490 500
KQESGVKIIT QQVQPSKILP KPVTATLPTS SNSPIMVVSS NGAIMTTKLV
510 520 530 540 550
TTPTGTQATY TRPTVSPSIG RMAATPGAAT YVKTTSGSII TVVPKSLATL
560 570 580 590 600
GGKIISSNIV SGTTTKITTI PMTSKPNVIV VQKTTGKGTT IQGLPGKNVV
610 620 630 640 650
TTLLNAGGEK TIQTVPTGAK PAILTATRPI TKMIVTQPKG IGSTVQPAAK
660 670 680 690 700
IIPTKIVYGQ QGKTQVLIKP KPVTFQATVV SEQTRQLVTE TLQQASRVAE
710 720 730 740 750
AGNSSIQEGK EEPQNYTDSS SSSTESSQSS QDSQPVVHVI ASRRQDWSEH
760 770 780 790 800
EIAMETSPTI IYQDVSSESQ SATSTIKALL ELQQTTVKEK LESKPRQPTI
810 820 830 840 850
DLSQMAVPIQ MTQEKRHSPE SPSIAVVESE LVAEYITTER TDEGTEVAFP
860 870 880 890 900
LLVSHRSQPQ QPSQPQRTLL QHVAQSQTAT QTSVVVKSIP ASSPGAITHI
910 920 930 940 950
MQQALSSHTA FTKHSEELGT EEGEVEEMDT LDPQTGLFYR SALTQSQSAK
960 970 980 990 1000
QQKLSQPPLE QTQLQVKTLQ CFQTKQKQTI HLQADQLQHK LPQMPQLSIR
1010 1020 1030 1040 1050
HQKLTPLQQE QAQPKPDVQH TQHPMVAKDR QLPTLMAQPP QTVVQVLAVK
1060 1070 1080 1090 1100
TTQQLPKLQQ APNQPKIYVQ PQTPQSQMSL PASSEKQTAS QVEQPIITQG
1110 1120 1130 1140 1150
SSVTKITFEG RQPPTVTKIT GGSSVPKLTS PVTSISPIQA SEKTAVSDIL
1160 1170 1180 1190 1200
KMSLMEAQID TNVEHMIVDP PKKALATSML TGEAGSLPST HMVVAGMANS
1210 1220 1230 1240 1250
TPQQQKCRES CSSPSTVGSS LTTRKIDPPA VPATGQFMRI QNVGQKKAEE
1260 1270 1280 1290 1300
SPAEIIIQAI PQYAIPCHSS SNVVVEPSGL LELNNFTSQQ LDDEETAMEQ
1310 1320
DIDSSTEDGT EPSPSQSSAE RS
Length:1,322
Mass (Da):141,468
Last modified:May 24, 2004 - v2
Checksum:i7F8C95E8BA0FC9F0
GO
Isoform 2 (identifier: Q7Z589-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1091-1257: Missing.

Note: No experimental confirmation available.
Show »
Length:1,155
Mass (Da):123,915
Checksum:iBF3921D979C50121
GO
Isoform 3 (identifier: Q7Z589-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: N → K
     83-1322: Missing.

Note: No experimental confirmation available.
Show »
Length:82
Mass (Da):9,352
Checksum:i61ECFDD214DF46A5
GO
Isoform 4 (identifier: Q7Z589-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: N → KMNLSLYLGERPSYS
     140-140: E → EV
     839-852: Missing.

Note: No experimental confirmation available.
Show »
Length:1,323
Mass (Da):141,634
Checksum:i48D4A27E0E96ABFF
GO
Isoform 5 (identifier: Q7Z589-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-140: E → EV

Note: No experimental confirmation available.
Show »
Length:1,323
Mass (Da):141,567
Checksum:i68F64DB83D342A02
GO
Isoform 6 (identifier: Q7Z589-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: N → KMNLSLYLGERPSYS
     733-747: SQPVVHVIASRRQDW → AVVISGEISSPPLFS
     748-852: Missing.

Note: No experimental confirmation available.
Show »
Length:1,231
Mass (Da):131,176
Checksum:i0BB9BB8A96B5F706
GO
Isoform 7 (identifier: Q7Z589-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: N → KMNLSLYLGERPSYS
     140-140: E → EV

Note: No experimental confirmation available.
Show »
Length:1,337
Mass (Da):143,193
Checksum:i9AD9C19FDB972AE6
GO

Sequence cautioni

The sequence AAF86947 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH29375 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAL65260 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14627 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02077482N → K in isoform 3. 1 Publication1
Alternative sequenceiVSP_05413982N → KMNLSLYLGERPSYS in isoform 4, isoform 6 and isoform 7. 1 Publication1
Alternative sequenceiVSP_02077583 – 1322Missing in isoform 3. 1 PublicationAdd BLAST1240
Alternative sequenceiVSP_054140140E → EV in isoform 4, isoform 5 and isoform 7. 1 Publication1
Alternative sequenceiVSP_054141733 – 747SQPVV…RRQDW → AVVISGEISSPPLFS in isoform 6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_054142748 – 852Missing in isoform 6. 1 PublicationAdd BLAST105
Alternative sequenceiVSP_054143839 – 852Missing in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0104311091 – 1257Missing in isoform 2. 1 PublicationAdd BLAST167

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ430203 mRNA Translation: CAD22881.1
AP002360 Genomic DNA No translation available.
AP003165 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW74998.1
BC029375 mRNA Translation: AAH29375.1 Different initiation.
BC033404 mRNA Translation: AAH33404.1
BC117265 mRNA Translation: AAI17266.1
BC143370 mRNA Translation: AAI43371.1
BC143374 mRNA Translation: AAI43375.1
BC143376 mRNA Translation: AAI43377.1
AK023651 mRNA Translation: BAB14627.1 Different initiation.
AY070433 mRNA Translation: AAL65260.1 Different initiation.
AF226047 mRNA Translation: AAF86947.1 Different initiation.
CCDSiCCDS73349.1 [Q7Z589-7]
CCDS73350.1 [Q7Z589-4]
CCDS73351.1 [Q7Z589-5]
CCDS8244.1 [Q7Z589-1]
RefSeqiNP_001287871.1, NM_001300942.1 [Q7Z589-7]
NP_001287872.1, NM_001300943.1 [Q7Z589-5]
NP_001287873.1, NM_001300944.1 [Q7Z589-4]
NP_064578.2, NM_020193.4 [Q7Z589-1]
UniGeneiHs.352588

Genome annotation databases

EnsembliENST00000334736; ENSP00000334130; ENSG00000158636 [Q7Z589-1]
ENST00000524767; ENSP00000433205; ENSG00000158636 [Q7Z589-7]
ENST00000525038; ENSP00000436968; ENSG00000158636 [Q7Z589-4]
ENST00000525919; ENSP00000432010; ENSG00000158636 [Q7Z589-5]
ENST00000529032; ENSP00000432327; ENSG00000158636 [Q7Z589-1]
ENST00000533248; ENSP00000433634; ENSG00000158636 [Q7Z589-6]
ENST00000533988; ENSP00000434665; ENSG00000158636 [Q7Z589-3]
GeneIDi56946
KEGGihsa:56946
UCSCiuc001oxj.4 human [Q7Z589-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEMSY_HUMAN
AccessioniPrimary (citable) accession number: Q7Z589
Secondary accession number(s): B7ZKT8
, B7ZKU0, B7ZKU2, Q17RM7, Q4G109, Q8NBU6, Q8TE50, Q9H8I9, Q9NRH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: April 25, 2018
This is version 148 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

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