Polycomb protein EED is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''EED''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
Polycomb protein EED is a member of the
Polycomb
Polycomb-group proteins (PcG proteins) are a family of protein complexes first discovered in fruit flies that can remodel chromatin such that epigenetic silencing of genes takes place. Polycomb-group proteins are well known for silencing Hox genes ...
-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
Histone deacetylases (, HDAC) are a class of enzymes that remove acetyl groups (O=C-CH3) from an ε-N-acetyl lysine amino acid on a histone, allowing the histones to wrap the DNA more tightly. This is important because DNA is wrapped around his ...
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.
Clinical significance
In humans, a ''de-novo'' mutation in EED has been reported in an individual displaying symptoms similar to those of
Weaver syndrome
Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive cra ...
.
Interactions
EED has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
*
EZH2
Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme ( EC 2.1.1.43) encoded by gene, that participates in histone methylation and, ultimately, transcriptional repression. EZH2 catalyzes the addition of methyl groups ...
,
HDAC1
Histone deacetylase 1 (HDAC1) is an enzyme that in humans is encoded by the ''HDAC1'' gene.
Function
Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. T ...
,Histone deacetylase 2
Histone deacetylase 2 (HDAC2) is an enzyme that in humans is encoded by the ''HDAC2'' gene. It belongs to the histone deacetylase class of enzymes responsible for the removal of acetyl groups from lysine residues at the N-terminal region of the co ...
,[
* ]ITGB7
Integrin beta-7 is an integrin protein that in humans is encoded by the ''ITGB7'' gene. It can pair with ITGA4 (CD49d) to form the heterodimeric integrin receptor αβ, or with ITGAE (CD103) to form αβ.
Structure
Like all integrin subunits, ...
,PPP1R8
Nuclear inhibitor of protein phosphatase 1 is an enzyme that in humans is encoded by the ''PPP1R8'' gene.
This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inh ...
,TGS1
Trimethylguanosine synthase is an enzyme that in humans is encoded by the ''TGS1'' gene.
Interactions
TGS1 has been shown to interact with:
* CREB-binding protein, and
* EED,
* EP300,
* MED1, and
* NCOA6
Nuclear receptor coactivator 6 i ...
.
References
External links
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Further reading
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