Linked Life Data

CPATH-28133

Source:http://cbio.mskcc.org/cpath#CPATH-28133

Statements in which the resource exists.
SubjectPredicateObjectContext
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cpath:CPATH-28133http://www.biopax.org/relea...Histone-lysine N-methyltransferase EZH2lld:biogrid
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cpath:CPATH-28133http://www.biopax.org/relea...2.1.1.43lld:biogrid
cpath:CPATH-28133http://www.biopax.org/relea...Enhancer of zeste homolog 2lld:biogrid
cpath:CPATH-28133http://www.biopax.org/relea...ENX-1lld:biogrid
cpath:CPATH-28133http://www.biopax.org/relea...FUNCTION: Polycomb group (PcG) protein. Catalytic subunit 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. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Compared to EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. 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 HOXA7, HOXB6 and HOXC8. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBUNIT: Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2 (By similarity). The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12 (By similarity). The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit (By similarity). Interacts with HDAC1 and HDAC2 (By similarity). Binds ATRX via the SET domain (By similarity). Interacts with PRAME (By similarity). Interacts with EED. SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Localizes to the inactive X chromosome in trophoblast stem cells. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=ENX-1A; IsoId=Q61188-1; Sequence=Displayed; Name=ENX-1B; IsoId=Q61188-2; Sequence=VSP_001501; TISSUE SPECIFICITY: Present in actively dividing cells. Widely expressed in early embryos. In later embryogenesis, expression restricted to central and peripheral nervous system, liver and thymus. In adult, highest expression in spleen, testis and placenta. Lower levels in intestine and muscle and very low levels in brain and liver. No expression in heart, thyroid gland, lung and kidney. DEVELOPMENTAL STAGE: Expressed in both adult and embryo with highest levels in early embryogenesis. Expressed in the fertilized oocyte. Expression decreases during differentiation of ES cells and during senescence of MEFs. Expression increases in prostate during prostate tumor development. INDUCTION: Repressed by the microRNA (miRNA) miR-26a. PTM: Phosphorylated by AKT1 (By similarity). Phosphorylation by AKT1 reduces methyltransferase activity (By similarity). DISRUPTION PHENOTYPE: Death early in development. Embryos cease development following implantation or initiate but fail to complete gastrulation. SIMILARITY: Belongs to the histone-lysine methyltransferase family. EZ subfamily. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=AAD54020.1; Type=Erroneous gene model prediction; GENE SYNONYMS: Enx1h. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
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