Human Gene EMSY (uc001oxl.3)
  Description: Homo sapiens chromosome 11 open reading frame 30 (EMSY), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:76,156,069-76,262,589 Size: 106,521 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr11:76,157,983-76,261,190 Size: 103,208 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:76,156,069-76,262,589)mRNA (may differ from genome)Protein (1322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMalacardsMGIneXtProt
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EMSY_HUMAN
DESCRIPTION: RecName: Full=Protein EMSY;
FUNCTION: 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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus. Note=Localizes to DNA damage markers in irradiated cells, suggesting that it participates in DNA repair process.
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.
MISCELLANEOUS: 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.
SIMILARITY: Contains 1 ENT (EMSY N-terminal) domain.
SEQUENCE CAUTION: Sequence=AAF86947.1; Type=Erroneous initiation; Sequence=AAH29375.1; Type=Erroneous initiation; Sequence=AAL65260.1; Type=Erroneous initiation; Sequence=BAB14627.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/C11ORF30ID173.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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: EMSY
Diseases sorted by gene-association score: sporadic breast cancer (24), breast cancer (2)

+  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: 6.28 RPKM in Brain - Cerebellum
Total median expression: 168.92 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.30143-0.310 Picture PostScript Text
3' UTR -351.721399-0.251 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
IPR005491 - ENT_N

Pfam Domains:
PF03735 - ENT domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1UTU - X-ray 1UZ3 - X-ray 2FMM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z589
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006281 DNA repair
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC033404 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone IMAGE:4830384), complete cds.
AK304043 - Homo sapiens cDNA FLJ58353 complete cds, moderately similar to Protein EMSY.
AK309621 - Homo sapiens cDNA, FLJ99662.
BC021688 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone IMAGE:3950474), with apparent retained intron.
AK125114 - Homo sapiens cDNA FLJ43124 fis, clone CTONG3004072, highly similar to Protein EMSY.
BC117265 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone MGC:150874 IMAGE:40125816), complete cds.
BC143370 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone MGC:176892 IMAGE:9051875), complete cds.
BC143374 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone MGC:176896 IMAGE:9051879), complete cds.
BC143376 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone MGC:176898 IMAGE:9051881), complete cds.
AJ430203 - Homo sapiens mRNA for EMSY protein (C11ORF30 gene).
BX647398 - Homo sapiens mRNA; cDNA DKFZp686M14144 (from clone DKFZp686M14144).
AK126030 - Homo sapiens cDNA FLJ44042 fis, clone TESTI4029671, highly similar to Protein EMSY.
AK304106 - Homo sapiens cDNA FLJ61539 complete cds, highly similar to Protein EMSY.
AK023651 - Homo sapiens cDNA FLJ13589 fis, clone PLACE1009308, weakly similar to GLUCOSE REPRESSION MEDIATOR PROTEIN.
AY070433 - Homo sapiens hypothetical protein GL002 mRNA, complete cds.
AK300400 - Homo sapiens cDNA FLJ57043 complete cds, highly similar to Protein EMSY.
BC029375 - Homo sapiens chromosome 11 open reading frame 30, mRNA (cDNA clone IMAGE:3996139), complete cds.
AF226047 - Homo sapiens GL002 (GL002) mRNA, complete cds.
CU688636 - Synthetic construct Homo sapiens gateway clone IMAGE:100022091 5' read C11orf30 mRNA.
KJ902923 - Synthetic construct Homo sapiens clone ccsbBroadEn_12317 C11orf30 gene, encodes complete protein.
JD244306 - Sequence 225330 from Patent EP1572962.
JD565379 - Sequence 546403 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C11orf30, EMSY_HUMAN, GL002, NM_020193, NP_064578, Q4G109, Q7Z589, Q8NBU6, Q8TE50, Q9H8I9, Q9NRH0
UCSC ID: uc001oxl.3
RefSeq Accession: NM_020193
Protein: Q7Z589 (aka EMSY_HUMAN)
CCDS: CCDS8244.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020193.3
exon count: 21CDS single in 3' UTR: no RNA size: 5518
ORF size: 3969CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8089.00frame shift in genome: no % Coverage: 99.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.