EED
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEED, HWAIT1, embryonic ectoderm development, COGIS
External IDsOMIM: 605984 MGI: 95286 HomoloGene: 2814 GeneCards: EED
Orthologs
SpeciesHumanMouse
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 MbChr 7: 89.6 – 89.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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:

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000074266 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030619 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Rietzler M, Bittner M, Kolanus W, Schuster A, Holzmann B (Nov 1998). "The human WD repeat protein WAIT-1 specifically interacts with the cytoplasmic tails of beta7-integrins". J. Biol. Chem. 273 (42): 27459–66. doi:10.1074/jbc.273.42.27459. PMID 9765275.
  6. Schumacher A, Lichtarge O, Schwartz S, Magnuson T (Jan 1999). "The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation". Genomics. 54 (1): 79–88. doi:10.1006/geno.1998.5509. PMID 9806832.
  7. 1 2 "Entrez Gene: EED embryonic ectoderm development".
  8. Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT (Mar 2015). "A novel mutation in EED associated with overgrowth". Journal of Human Genetics. 60 (6): 339–342. doi:10.1038/jhg.2015.26. PMID 25787343. S2CID 22055237.
  9. 1 2 3 van der Vlag J, Otte AP (Dec 1999). "Transcriptional repression mediated by the human polycomb-group protein EED involves histone deacetylation". Nat. Genet. 23 (4): 474–8. doi:10.1038/70602. PMID 10581039. S2CID 6748531.
  10. van Lohuizen M, Tijms M, Voncken JW, Schumacher A, Magnuson T, Wientjens E (Jun 1998). "Interaction of mouse polycomb-group (Pc-G) proteins Enx1 and Enx2 with Eed: indication for separate Pc-G complexes". Mol. Cell. Biol. 18 (6): 3572–9. doi:10.1128/MCB.18.6.3572. PMC 108938. PMID 9584197.
  11. Denisenko O, Shnyreva M, Suzuki H, Bomsztyk K (Oct 1998). "Point mutations in the WD40 domain of Eed block its interaction with Ezh2". Mol. Cell. Biol. 18 (10): 5634–42. doi:10.1128/MCB.18.10.5634. PMC 109149. PMID 9742080.
  12. Jin Q, van Eynde A, Beullens M, Roy N, Thiel G, Stalmans W, Bollen M (Aug 2003). "The protein phosphatase-1 (PP1) regulator, nuclear inhibitor of PP1 (NIPP1), interacts with the polycomb group protein, embryonic ectoderm development (EED), and functions as a transcriptional repressor". J. Biol. Chem. 278 (33): 30677–85. doi:10.1074/jbc.M302273200. PMID 12788942.
  13. Enünlü I, Pápai G, Cserpán I, Udvardy A, Jeang KT, Boros I (Sep 2003). "Different isoforms of PRIP-interacting protein with methyltransferase domain/trimethylguanosine synthase localizes to the cytoplasm and nucleus". Biochem. Biophys. Res. Commun. 309 (1): 44–51. doi:10.1016/s0006-291x(03)01514-6. PMID 12943661.


  • Overview of all the structural information available in the PDB for UniProt: O75530 (Polycomb protein EED) at the PDBe-KB.


Further reading

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