EED

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Embryonic ectoderm development
Protein EED PDB 3IIW.png
Rendering based on PDB 3IIW.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols EED ; HEED; WAIT1
External IDs OMIM605984 MGI95286 HomoloGene2814 GeneCards: EED Gene
RNA expression pattern
PBB GE EED 209572 s at tn.png
PBB GE EED 210656 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8726 13626
Ensembl ENSG00000074266 ENSMUSG00000030619
UniProt O75530 Q921E6
RefSeq (mRNA) NM_003797 NM_021876
RefSeq (protein) NP_003788 NP_068676
Location (UCSC) Chr 11:
85.96 – 85.99 Mb
Chr 7:
89.95 – 89.98 Mb
PubMed search [1] [2]

Polycomb protein EED is a protein that in humans is encoded by the EED gene.[1][2][3]

Function[edit]

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.[3]

Clinical significance[edit]

In humans, a de-novo mutation in EED has been reported in an individual displaying symptoms similar to those of Weaver syndrome.[4]

Interactions[edit]

EED has been shown to interact with:

References[edit]

  1. ^ a b 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: EED embryonic ectoderm development". 
  4. ^ 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. doi:10.1038/jhg.2015.26. PMID 25787343. 
  5. ^ a b c 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. 
  6. ^ 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. PMC 108938. PMID 9584197. 
  7. ^ 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. PMC 109149. PMID 9742080. 
  8. ^ Jin Q, van Eynde A, Beullens M, Roy N, Thiel G, Stalmans W et al. (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. 
  9. ^ 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.  Vancouver style error (help)

Further reading[edit]