Polycomb protein EED

Polycomb protein EED is a protein that in humans is encoded by the EED gene.^[5][6][7]

EED
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3IIW, 3IIY, 3IJ0, 3IJ1, 3IJC, 3JPX, 3JZG, 3JZH, 3JZN, 3K26, 3K27, 4X3E, 5IJ7, 5IJ8, 5HYN
Identifiers
Aliases	EED, HWAIT1, embryonic ectoderm development, COGIS
External IDs	OMIM: 605984; MGI: 95286; HomoloGene: 2814; GeneCards: EED; OMA:EED - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q14.2 Start 86,244,753 bp[1] End 86,278,813 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 D3|7 Start 89,603,862 bp[2] End 89,630,191 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lymph node cerebellar vermis cerebellar hemisphere canal of the cervix right uterine tube epithelium of bronchus mucosa of transverse colon right hemisphere of cerebellum left ovary ventricular zone Top expressed in zygote primary oocyte secondary oocyte yolk sac primitive streak morula morula medullary collecting duct Gonadal ridge ureter More reference expression data BioGPS More reference expression data
Gene ontology Molecular function chromatin binding protein binding identical protein binding RNA polymerase II cis-regulatory region sequence-specific DNA binding histone methyltransferase activity histone methyltransferase activity (H3-K27 specific) nucleosome binding Cellular component sex chromatin ESC/E(Z) complex chromosome pronucleus nucleus nucleoplasm cytosol Biological process regulation of gene expression by genetic imprinting regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated negative regulation of gene expression, epigenetic spinal cord development positive regulation of histone H3-K27 methylation histone methylation negative regulation of transcription, DNA-templated regulation of adaxial/abaxial pattern formation histone H3-K27 methylation cellular response to leukemia inhibitory factor negative regulation of G0 to G1 transition chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8726 13626 Ensembl ENSG00000074266 ENSMUSG00000030619 UniProt O75530 Q921E6 RefSeq (mRNA) NM_001308007 NM_003797 NM_152991 NM_001330334 NM_021876 RefSeq (protein) NP_001294936 NP_001317263 NP_003788 NP_068676 Location (UCSC) Chr 11: 86.24 – 86.28 Mb Chr 7: 89.6 – 89.63 Mb PubMed search [3] [4]
Wikidata
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Function

Polycomb protein EED is 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 β7, 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.^[7]

Clinical significance

In humans, a de-novo mutation in EED has been reported in an individual displaying symptoms similar to those of Weaver syndrome.^[8]

Interactions

EED has been shown to interact with:

• EZH2,^[9][10][11]
• HDAC1,^[9]
• Histone deacetylase 2,^[9]
• ITGB7,^[5]
• PPP1R8,^[12] and
• TGS1.^[13]