EED

SECTIONS

1 - Developmental stage
2 - Domain
3 - Function
4 - Involvement in disease
5 - Post-translational modifications
6 - Sequence similarities
7 - Tissue specificity
8 - Cellular localization
9 - Alternative names
10 - Database links
11 - Target type
12 - Primary research area
13 - Molecular weight

Developmental stage

Expression peaks at the G1/S phase boundary.

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.

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.

Involvement in disease

Cohen-Gibson syndrome

COGIS

An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Methylated. Binding to histone H1 'Lys-26' promotes mono-, di-, and trimethylation of internal lysines.

Sequence similarities

Belongs to the WD repeat ESC family.

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.