EED
entrez
8726
canonical
uniprot
O75530
canonical
ensembl
ENSG00000074266
resolver
ensp
ENSP00000263360
resolver
ensp
ENSP00000315587
resolver
ensp
ENSP00000338186
resolver
ensp
ENSP00000431778
resolver
enst
ENST00000528180
resolver
genesymbol
EED
resolver
hgnc
HGNC:3188
resolver
uniprot
A8K7V5
resolver
uniprot
E9PJK2
resolver
uniprot
O00149
resolver
uniprot
Q6NTH2
resolver
uniprot
Q7LDA5
resolver
uniprot
Q7LDG8
resolver
uniprot
Q86VV2
resolver
uniprot
Q9UNY7
resolver
uniprot_entry
E9PJK2_HUMAN
resolver
uniprot_entry
EED_HUMAN
resolver
uniprot_sec
A8K7V5
resolver
uniprot_sec
O00149
resolver
uniprot_sec
Q6NTH2
resolver
uniprot_sec
Q7LDA5
resolver
uniprot_sec
Q7LDG8
resolver
uniprot_sec
Q86VV2
resolver
uniprot_sec
Q9UNY7
resolver
amino_acid_sequence
MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR
uniprot
proteins
disease_involvement
DISEASE: Cohen-Gibson syndrome (COGIS) [MIM:617561]: 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. {ECO:0000269|PubMed:25787343, ECO:0000269|PubMed:27193220, ECO:0000269|PubMed:27868325, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:28475857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:10581039, ECO:0000269|PubMed:14532106, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:20974918, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:9584199}.
uniprot
proteins
mass_dalton
50198
uniprot
proteins
mutagenesis
MUTAGEN 97; /note="F->A: Abolishes binding to H3K27me3."; /evidence="ECO:0000269|PubMed:20974918"; MUTAGEN 148; /note="Y->A: Abolishes binding to H3K27me3."; /evidence="ECO:0000269|PubMed:20974918"; MUTAGEN 193; /note="I->N: Impairs interaction with EZH2."; /evidence="ECO:0000269|PubMed:9584199"; MUTAGEN 196; /note="L->P: Impairs interaction with EZH2."; /evidence="ECO:0000269|PubMed:9584199"; MUTAGEN 300..301; /note="ST->AA: Impairs interaction with the matrix protein MA of HIV-1."; /evidence="ECO:0000269|PubMed:9880543"; MUTAGEN 305..308; /note="HRNY->AAAA: Impairs interaction with the matrix protein MA of HIV-1."; /evidence="ECO:0000269|PubMed:9880543"; MUTAGEN 364; /note="W->A: Abolishes binding to H3K27me3."; /evidence="ECO:0000269|PubMed:20974918"; MUTAGEN 364; /note="W->L: Abolishes binding to H3K27me3."; /evidence="ECO:0000269|PubMed:20974918"; MUTAGEN 365; /note="Y->A: Abolishes binding to H3K27me3."; /evidence="ECO:0000269|PubMed:20974918
uniprot
proteins
post_translational_modification
PTM: Methylated. Binding to histone H1 'Lys-26' promotes mono-, di-, and trimethylation of internal lysines. {ECO:0000269|PubMed:20974918}.
uniprot
proteins
protein_family
WD repeat ESC family
uniprot
proteins
pubmed
10581039
uniprot
proteins
pubmed
11158321
uniprot
proteins
pubmed
12101246
uniprot
proteins
pubmed
12351676
uniprot
proteins
pubmed
12435631
uniprot
proteins
pubmed
12649488
uniprot
proteins
pubmed
14532106
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15099518
uniprot
proteins
pubmed
15225548
uniprot
proteins
pubmed
15231737
uniprot
proteins
pubmed
15385962
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15684044
uniprot
proteins
pubmed
16357870
uniprot
proteins
pubmed
16431907
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17200670
uniprot
proteins
pubmed
18086877
uniprot
proteins
pubmed
18285464
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19026781
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20974918
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22009739
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25787343
uniprot
proteins
pubmed
27193220
uniprot
proteins
pubmed
27868325
uniprot
proteins
pubmed
28229514
uniprot
proteins
pubmed
28475857
uniprot
proteins
pubmed
9584199
uniprot
proteins
pubmed
9765275
uniprot
proteins
pubmed
9806832
uniprot
proteins
pubmed
9880543
uniprot
proteins
sequence_length
441
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Transiently colocalizes with XIST at inactive X chromosomes.
uniprot
proteins