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Entry version 155 (13 Feb 2019)
Sequence version 2 (24 May 2004)
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Protein

BRCA2-interacting transcriptional repressor EMSY

Gene

EMSY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
BRCA2-interacting transcriptional repressor EMSYImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EMSYImported
Synonyms:C11orf30
ORF Names:GL002
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000158636.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18071 EMSY

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608574 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z589

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi100 – 102VPL → APA: Abolishes interaction with CBX1. 1 Publication3
Mutagenesisi106L → A: Abolishes interaction with ZMYND11. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
56946

Open Targets

More...
OpenTargetsi
ENSG00000158636

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134904392

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EMSY

Domain mapping of disease mutations (DMDM)

More...
DMDMi
47605660

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000869681 – 1322BRCA2-interacting transcriptional repressor EMSYAdd BLAST1322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei207PhosphothreonineCombined sources1
Modified residuei209PhosphoserineCombined sources1
Modified residuei213PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z589

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z589

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7Z589

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q7Z589

PeptideAtlas

More...
PeptideAtlasi
Q7Z589

PRoteomics IDEntifications database

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PRIDEi
Q7Z589

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69263
69264 [Q7Z589-2]
69265 [Q7Z589-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1657

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7Z589

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q7Z589

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158636 Expressed in 206 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z589 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z589 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB012234
HPA050777

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121270, 55 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q7Z589

Database of interacting proteins

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DIPi
DIP-29099N

Protein interaction database and analysis system

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IntActi
Q7Z589, 33 interactors

Molecular INTeraction database

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MINTi
Q7Z589

STRING: functional protein association networks

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STRINGi
9606.ENSP00000334130

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11322
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UTUX-ray2.00A/B1-108[»]
1UZ3X-ray1.10A/B1-100[»]
2FMMX-ray1.80E9-139[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q7Z589

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q7Z589

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q7Z589

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 100ENTPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 478Interaction with BRCA21 PublicationAdd BLAST478
Regioni104 – 108Interaction with ZMYND115

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4675 Eukaryota
ENOG410YF3T LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009554

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112366

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051476

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z589

Identification of Orthologs from Complete Genome Data

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OMAi
QPATKII

Database of Orthologous Groups

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OrthoDBi
150416at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z589

TreeFam database of animal gene trees

More...
TreeFami
TF332401

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR033482 EMSY
IPR005491 ENT_dom
IPR036142 ENT_dom-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR16500 PTHR16500, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03735 ENT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01191 ENT, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF158639 SSF158639, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51138 ENT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMC9E9PMC9_HUMAN
BRCA2-interacting transcriptional r...
EMSY
1,224Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YET8H0YET8_HUMAN
BRCA2-interacting transcriptional r...
EMSY
295Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDI4H0YDI4_HUMAN
BRCA2-interacting transcriptional r...
EMSY
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YEP9H0YEP9_HUMAN
BRCA2-interacting transcriptional r...
EMSY
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCS3H0YCS3_HUMAN
BRCA2-interacting transcriptional r...
EMSY
217Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPE6E9PPE6_HUMAN
BRCA2-interacting transcriptional r...
EMSY
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73349.1 [Q7Z589-7]
CCDS73350.1 [Q7Z589-4]
CCDS73351.1 [Q7Z589-5]
CCDS8244.1 [Q7Z589-1]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.352588

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000334736; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56946

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56946

UCSC genome browser

More...
UCSCi
uc001oxj.4 human [Q7Z589-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

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...

Protein-protein interaction databases

BioGridi121270, 55 interactors
CORUMiQ7Z589
DIPiDIP-29099N
IntActiQ7Z589, 33 interactors
MINTiQ7Z589
STRINGi9606.ENSP00000334130

PTM databases

GlyConnecti1657
iPTMnetiQ7Z589
PhosphoSitePlusiQ7Z589

Polymorphism and mutation databases

BioMutaiEMSY
DMDMi47605660

Proteomic databases

EPDiQ7Z589
jPOSTiQ7Z589
MaxQBiQ7Z589
PaxDbiQ7Z589
PeptideAtlasiQ7Z589
PRIDEiQ7Z589
ProteomicsDBi69263
69264 [Q7Z589-2]
69265 [Q7Z589-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56946
DisGeNETi56946
EuPathDBiHostDB:ENSG00000158636.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EMSY
HGNCiHGNC:18071 EMSY
HPAiCAB012234
HPA050777
MIMi608574 gene
neXtProtiNX_Q7Z589
OpenTargetsiENSG00000158636
PharmGKBiPA134904392

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4675 Eukaryota
ENOG410YF3T LUCA
GeneTreeiENSGT00390000009554
HOGENOMiHOG000112366
HOVERGENiHBG051476
InParanoidiQ7Z589
OMAiQPATKII
OrthoDBi150416at2759
PhylomeDBiQ7Z589
TreeFamiTF332401

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EMSY human
EvolutionaryTraceiQ7Z589

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
C11orf30

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
56946

Protein Ontology

More...
PROi
PR:Q7Z589

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158636 Expressed in 206 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ7Z589 baseline and differential
GenevisibleiQ7Z589 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEMSY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7Z589
Secondary accession number(s): B7ZKT8
, B7ZKU0, B7ZKU2, Q17RM7, Q4G109, Q8NBU6, Q8TE50, Q9H8I9, Q9NRH0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: February 13, 2019
This is version 155 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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