Human Gene EED (ENST00000263360.11) from GENCODE V44
  Description: Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA. (from RefSeq NM_003797)
RefSeq Summary (NM_003797): This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000263360.11
Gencode Gene: ENSG00000074266.23
Transcript (Including UTRs)
   Position: hg38 chr11:86,244,753-86,278,810 Size: 34,058 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr11:86,245,230-86,278,525 Size: 33,296 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:86,244,753-86,278,810)mRNA (may differ from genome)Protein (441 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EED_HUMAN
DESCRIPTION: RecName: Full=Polycomb protein EED; Short=hEED; AltName: Full=WD protein associating with integrin cytoplasmic tails 1; Short=WAIT-1;
FUNCTION: Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.
SUBUNIT: Interacts with MLL (By similarity). Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with HDAC, HDAC2, histone H1 and YY1. May interact with ITGA4, ITGAE and ITGB7. May interact with the MA protein of HIV-1.
INTERACTION: Self; NbExp=2; IntAct=EBI-923794, EBI-923794; P26358:DNMT1; NbExp=3; IntAct=EBI-923794, EBI-719459; Q9Y6K1:DNMT3A; NbExp=2; IntAct=EBI-923794, EBI-923653; Q9UBC3:DNMT3B; NbExp=4; IntAct=EBI-923794, EBI-80125; Q15156:PML-RAR; NbExp=2; IntAct=EBI-923794, EBI-867256;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Transiently colocalizes with XIST at inactive X chromosomes.
TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, liver, lung, muscle, ovary, peripheral blood leukocytes, pancreas, placenta, prostate, spleen, small intestine, testis, thymus and uterus. Appears to be overexpressed in breast and colon cancer.
DEVELOPMENTAL STAGE: Expression peaks at the G1/S phase boundary.
INDUCTION: Expression is induced by E2F1, E2F2 and E2F3.
DOMAIN: The WD repeat domain mediates recognition of trimethylated histone peptides at the consensus sequence Ala-Arg-Lys-Ser. This is achieved through an aromatic cage encircling the methyllysine, and involving Phe-97, Tyr-148 and Tyr-365.
PTM: Methylated. Binding to histone H1 'Lys-26' promotes mono-, di-, and trimethylation of internal lysines.
SIMILARITY: Belongs to the WD repeat ESC family.
SIMILARITY: Contains 7 WD repeats.
CAUTION: Two variants of the PRC2 complex have been described, termed PRC3 and PRC4. Each of the three complexes may include a different complement of EED isoforms, although the precise sequences of the isoforms in each complex have not been determined. The PRC2 and PRC4 complexes may also methylate 'Lys- 26' of histone H1 in addition to 'Lys-27' of histone H3 (PubMed:15099518 and PubMed:15684044), although other studies have demonstrated no methylation of 'Lys-26' of histone H1 by PRC2 (PubMed:16431907).
SEQUENCE CAUTION: Sequence=AAC23685.1; Type=Erroneous initiation; Sequence=AAC68675.1; Type=Erroneous initiation;

-  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: EED
Diseases sorted by gene-association score: cohen-gibson syndrome* (900), weaver syndrome (19), anisometropia (5), hiv-1 (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.31 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 262.78 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 -208.00477-0.436 Picture PostScript Text
3' UTR -49.60285-0.174 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
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3IIW - X-ray MuPIT 3IIY - X-ray MuPIT 3IJ0 - X-ray MuPIT 3IJ1 - X-ray MuPIT 3IJC - X-ray MuPIT 3JPX - X-ray MuPIT 3JZG - X-ray MuPIT 3JZH - X-ray MuPIT 3JZN - X-ray MuPIT 3K26 - X-ray MuPIT 3K27 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75530
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0042054 histone methyltransferase activity
GO:0042802 identical protein binding
GO:0046976 histone methyltransferase activity (H3-K27 specific)

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016571 histone methylation
GO:0021510 spinal cord development
GO:0045814 negative regulation of gene expression, epigenetic
GO:0045892 negative regulation of transcription, DNA-templated
GO:0061087 positive regulation of histone H3-K27 methylation
GO:0070317 negative regulation of G0 to G1 transition
GO:0070734 histone H3-K27 methylation
GO:1990830 cellular response to leukemia inhibitory factor
GO:2000011 regulation of adaxial/abaxial pattern formation

Cellular Component:
GO:0001739 sex chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol
GO:0035098 ESC/E(Z) complex
GO:0045120 pronucleus


-  Descriptions from all associated GenBank mRNAs
  AK292120 - Homo sapiens cDNA FLJ77922 complete cds, highly similar to Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.
AF080227 - Homo sapiens embryonic ectoderm development protein mRNA, complete cds.
LP955729 - Sequence 11 from Patent WO2017214373.
AF070418 - Homo sapiens embryonic ectoderm development protein mRNA, partial cds.
AF099032 - Homo sapiens embryonic ectoderm development protein short isoform mRNA, complete cds.
U90651 - Homo sapiens embryonic ectoderm development protein homolog (eed) mRNA, alternatively spliced product, complete cds.
BC068995 - Homo sapiens embryonic ectoderm development, mRNA (cDNA clone MGC:78405 IMAGE:4637702), complete cds.
AK294133 - Homo sapiens cDNA FLJ57352 complete cds, highly similar to Mus musculus embryonic ectoderm development (Eed), mRNA.
CU686693 - Synthetic construct Homo sapiens gateway clone IMAGE:100023109 5' read EED mRNA.
AB463023 - Synthetic construct DNA, clone: pF1KB4977, Homo sapiens EED gene for embryonic ectoderm development, without stop codon, in Flexi system.
EU446743 - Synthetic construct Homo sapiens clone IMAGE:100070321; IMAGE:100011952; FLH257192.01L embryonic ectoderm development (EED) gene, encodes complete protein.
AF078933 - Homo sapiens WAIT-1 (WAIT1) mRNA, complete cds.
AK301265 - Homo sapiens cDNA FLJ56640 complete cds, highly similar to Mus musculus embryonic ectoderm development (Eed), mRNA.
BC047672 - Homo sapiens embryonic ectoderm development, mRNA (cDNA clone IMAGE:5582465), partial cds.
MB474743 - JP 2019527037-A/11: DIAGNOSTIC AND THERAPEUTIC METHODS FOR CANCER.
JD058229 - Sequence 39253 from Patent EP1572962.
JD261504 - Sequence 242528 from Patent EP1572962.
JD526104 - Sequence 507128 from Patent EP1572962.
JD151673 - Sequence 132697 from Patent EP1572962.
JD039136 - Sequence 20160 from Patent EP1572962.
JD408243 - Sequence 389267 from Patent EP1572962.
JD294524 - Sequence 275548 from Patent EP1572962.
JD486101 - Sequence 467125 from Patent EP1572962.
JD485663 - Sequence 466687 from Patent EP1572962.
LQ980401 - Sequence 47 from Patent WO2013050532.
JD111158 - Sequence 92182 from Patent EP1572962.
JD199345 - Sequence 180369 from Patent EP1572962.
JD162026 - Sequence 143050 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prc2Pathway - The PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails

Reactome (by CSHL, EBI, and GO)

Protein O75530 (Reactome details) participates in the following event(s):

R-HSA-3240957 Formation of PRC2-EZH2 complex
R-HSA-8954110 E2F6:TFDP1:EPC1 binds the PRC2 complex
R-HSA-212222 PRC2 recruits DNA methyltransferases
R-HSA-8943817 MECOM (EVI1) recruits polycomb repressor complexes (PRCs) to the PTEN gene promoter
R-HSA-3240295 PRC2-EZH2 trimethylates nucleosomes associated with CDKN2A promoter
R-HSA-5638332 PRC2 (EZH2) Core:AEBP2 methylates lysine-28 of histone H3 (H3K27)
R-HSA-212263 PRC2 trimethylates histone H3 at lysine-27
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-2559583 Cellular Senescence
R-HSA-212300 PRC2 methylates histones and DNA
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-212436 Generic Transcription Pathway
R-HSA-5619507 Activation of HOX genes during differentiation
R-HSA-2262752 Cellular responses to stress
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-6807070 PTEN Regulation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-74160 Gene expression (Transcription)
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-4839726 Chromatin organization
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7V5, EED_HUMAN, ENST00000263360.1, ENST00000263360.10, ENST00000263360.2, ENST00000263360.3, ENST00000263360.4, ENST00000263360.5, ENST00000263360.6, ENST00000263360.7, ENST00000263360.8, ENST00000263360.9, NM_003797, O00149, O75530, Q6NTH2, Q7LDA5, Q7LDG8, Q86VV2, Q9UNY7, uc001pbp.1, uc001pbp.2, uc001pbp.3, uc001pbp.4, uc001pbp.5
UCSC ID: ENST00000263360.11
RefSeq Accession: NM_003797
Protein: O75530 (aka EED_HUMAN)
CCDS: CCDS8273.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EED:
eed-og (EED-Related Overgrowth)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.