EED
Polycomb protein EED
Also known as: EED_HUMAN, HEED, WAIT-1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75530
- Gene
- EED
- Ensembl
- ENSG00000074266
- Chromosome
- 11
- Canonical length
- 441 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes 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 beta7, 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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
441 residues, UniProt reviewed canonical sequence.
>O75530|EED
1 MSEREVSTAP AGTDMPAAKK QKLSSDENSN PDLSGDENDD AVSIESGTNT ERPDTPTNTP
61 NAPGRKSWGK GKWKSKKCKY SFKCVNSLKE DHNQPLFGVQ FNWHSKEGDP LVFATVGSNR
121 VTLYECHSQG EIRLLQSYVD ADADENFYTC AWTYDSNTSH PLLAVAGSRG IIRIINPITM
181 QCIKHYVGHG NAINELKFHP RDPNLLLSVS KDHALRLWNI QTDTLVAIFG GVEGHRDEVL
241 SADYDLLGEK IMSCGMDHSL KLWRINSKRM MNAIKESYDY NPNKTNRPFI SQKIHFPDFS
301 TRDIHRNYVD CVRWLGDLIL SKSCENAIVC WKPGKMEDDI DKIKPSESNV TILGRFDYSQ
361 CDIWYMRFSM DFWQKMLALG NQVGKLYVWD LEVEDPHKAK CTTLTHHKCG AAIRQTSFSR
421 DSSILIAVCD DASIWRWDRL RLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EED can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 30 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 30 nTPM
- lymph node: 27 nTPM
- thymus: 17 nTPM
- appendix: 15 nTPM
- cerebellum: 15 nTPM
- retina: 15 nTPM
Single-cell type
- microglia: 91 nCPM
- migrating cytotrophoblasts: 75 nCPM
- cytotrophoblasts: 59 nCPM
- cdc: 55 nCPM
- extravillous trophoblasts: 55 nCPM
- adrenal medulla cells: 53 nCPM
Immune cell
- T-reg: 59 nTPM
- naive B-cell: 48 nTPM
- memory B-cell: 45 nTPM
- memory CD4 T-cell: 33 nTPM
- memory CD8 T-cell: 32 nTPM
- basophil: 31 nTPM
Brain region
- cerebellum: 17 nTPM
- hypothalamus: 14 nTPM
- white matter: 14 nTPM
- cerebral cortex: 13 nTPM
- medulla oblongata: 13 nTPM
- basal ganglia: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EED.
Disease | AllUniProt
Conditions EED is implicated in, by any mechanism.
- Cohen-Gibson syndrome (COGIS) MIM:617561
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 175 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cohen-Gibson syndrome
- Neurodevelopmental delay
- Autism spectrum disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.73
- DepMap mean gene effect
- -0.19
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to leukemia inhibitory factor
- facultative heterochromatin formation
- genomic imprinting
- heterochromatin formation
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- oligodendrocyte differentiation
- regulation of adaxial/abaxial pattern formation
- spinal cord development
Molecular functions
- chromatin binding
- enzyme activator activity
- identical protein binding
- transcription corepressor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- WD40-repeat-containing domain superfamily
- WD domain, G-beta repeat
- Polycomb group WD repeat-containing protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EED in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EED as an antibody target. Whether an autoantibody or antibody against EED could matter depends on whether native EED is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EED is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EED as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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