Q15910

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession EZH2_HUMAN; Q15910;
Entrez ID 2146
GenBank Protein ID NM_001203247.1; NM_001203248.1; NM_001203249.1; NM_004456.4; NM_152998.2; XM_011515884.2;
GenBank Nucleotide ID NP_001190176.1; NP_001190177.1; NP_001190178.1; NP_004447.2; NP_694543.1; XP_011514186.1;
Protein Name Histone-lysine N-methyltransferase EZH2 (EC 2.1.1.43) (ENX-1) (Enhancer of zeste homolog 2) (Lysine N-methyltransferase 6)
Gene Name EZH2; KMT6
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionPolycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) 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. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599). Compared to EZH1-containing(view all)
Sequence
(Fasta)
MGQTGKKSEK GPVCWRKRVK SEYMRLRQLK RFRRADEVKS MFSSNRQKIL ERTEILNQEW 60
KQRRIQPVHI LTSVSSLRGT RECSVTSDLD FPTQVIPLKT LNAVASVPIM YSWSPLQQNF 120
MVEDETVLHN IPYMGDEVLD QDGTFIEELI KNYDGKVHGD RECGFINDEI FVELVNALGQ 180
YNDDDDDDDG DDPEEREEKQ KDLEDHRDDK ESRPPRKFPS DKIFEAISSM FPDKGTAEEL 240
KEKYKELTEQ QLPGALPPEC TPNIDGPNAK SVQREQSLHS FHTLFCRRCF KYDCFLHPFH 300
ATPNTYKRKN TETALDNKPC GPQCYQHLEG AKEFAAALTA ERIKTPPKRP GGRRRGRLPN 360
NSSRPSTPTI NVLESKDTDS DREAGTETGG ENNDKEEEEK KDETSSSSEA NSRCQTPIKM 420
KPNIEPPENV EWSGAEASMF RVLIGTYYDN FCAIARLIGT KTCRQVYEFR VKESSIIAPA 480
PAEDVDTPPR KKKRKHRLWA AHCRKIQLKK DGSSNHVYNY QPCDHPRQPC DSSCPCVIAQ 540
NFCEKFCQCS SECQNRFPGC RCKAQCNTKQ CPCYLAVREC DPDLCLTCGA ADHWDSKNVS 600
CKNCSIQRGS KKHLLLAPSD VAGWGIFIKD PVQKNEFISE YCGEIISQDE ADRRGKVYDK 660
YMCSFLFNLN NDFVVDATRK GNKIRFANHS VNPNCYAKVM MVNGDHRIGI FAKRAIQTGE 720
ELFFDYRYSQ ADALKYVGIE REMEIP 747

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationBreast cancer/tumor/carcinomaD23918806; 3811872
[Reference]: epletion of EZH2 in breast cancer cells significantly increased expression of the top altered genes, decreased proliferation, and improved cell adhesion, indicating a critical role played by EZH2 in determining the cancer phenotype.
2Serine PhosphorylationMelanomaUS2126517694
[Reference]: Cell adhesion counteracted anticancer drug-induced hypermethylation of H3K27 via inactivating phosphorylation of the transcription regulator EZH2 at serine 21, leading to the sustained expression of antiapoptotic genes, including IGF1, B cell CLL/lymphoma 2 (BCL2), and hypoxia inducible factor 1, ? subunit (HIF1A).?
3Lysine MethylationMalignant diseasePK2724183969
[Reference]: These compounds inhibit wild-type and mutant versions of EZH2 with nanomolar potency, suppress global histone H3-lysine 27 methylation, affect gene expression, and cause selective proliferation defects
4Lysine MethylationCancersCK273868555; 24367637
[Reference]: overexpression and mutation of EZH2 are associated with the incidence and aggressiveness of various cancers
5Threonine PhosphorylationBreast cancer/tumor/carcinomaPT41626279746
[Reference]: Phosphorylation of EZH2 at T416 by CDK2 contributes to the malignancy of triple negative breast cancers.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
DLBCL
CTD (Curated)
(count: 14)
(view all)
MESH:D001943 ; Breast Neoplasms
MESH:D003398 ; Craniosynostoses
MESH:D016889 ; Endometrial Neoplasms
MESH:C566025 ; Leukemia, Megakaryoblastic, of Down Syndrome
MESH:D054429 ; Leukemia, Myelomonocytic, Juvenile
MESH:D008224 ; Lymphoma, Follicular
DisGeNet (Curated)
(count: 127)
(view all)
C0001815; Primary Myelofibrosis
C0009081; Congenital clubfoot
C0010278; Craniosynostosis
C0010417; Cryptorchidism
C0010495; Cutis Laxa
C0013362; Dysarthria
GWASdb
(count: 1)
rs7783459; Alzheimer's disease; Alzheimer's disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 32)
(view all)
21        CWRKRVKSEYMRLRQ     dbPAF
220       RPPRKFPSDKIFEAI     dbPAF
23        RKRVKSEYMRLRQLK     dbPAF
292       FCRRCFKYDCFLHPF     dbPAF
302       FLHPFHATPNTYKRK     dbPAF
339       KEFAAALTAERIKTP     dbPAF
Acetylation
(count: 8)
(view all)
10        QTGKKSEKGPVCWRK     PLMD
234       ISSMFPDKGTAEELK     PLMD
241       KGTAEELKEKYKELT     PLMD
318       TETALDNKPCGPQCY     PLMD
569       CKAQCNTKQCPCYLA     PLMD
698       VNPNCYAKVMMVNGD     PLMD
Ubiquitination
(count: 15)
(view all)
10        QTGKKSEKGPVCWRK     PLMD
217       KESRPPRKFPSDKIF     PLMD
245       EELKEKYKELTEQQL     PLMD
39        FRRADEVKSMFSSNR     PLMD
461       IARLIGTKTCRQVYE     PLMD
472       QVYEFRVKESSIIAP     PLMD
Methylation
(count: 4)
505       LWAAHCRKIQLKKDG     PLMD
509       HCRKIQLKKDGSSNH     PLMD
510       CRKIQLKKDGSSNHV     PLMD
735       YSQADALKYVGIERE     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
B4DIE6Q15910MINT
E9PHR6Q15910MINT
H0Y610Q15910MINT
O14788Q15910MINT
O14980Q15910DIP
O43189Q15910IntAct
O43318Q15910MINT
O60925Q15910MINT
O75367Q15910DIP
O75530Q15910IntAct;HPRD
O75582Q15910MINT
O95257Q15910MINT
P04183Q15910MINT
P04844Q15910IntAct
P05023Q15910IntAct
P05026Q15910MINT
P10276Q15910IntAct
P15498Q15910HPRD
P20936Q15910MINT
P26358Q15910IntAct
P28072Q15910IntAct; MINT
P29590Q15910IntAct
P31749Q15910HPRD
P52788Q15910IntAct; MINT
P78352Q15910MINT
Q00534Q15910IntAct
Q12789Q15910IntAct; MINT
Q13387Q15910MINT
Q14181Q15910IntAct; MINT
Q15022Q15910DIP
Q15156Q15910IntAct
Q15834Q15910IntAct; MINT
Q15910Q16637MINT
Q15910Q16644MINT
Q15910Q5JYR7MINT
Q15910Q92833DIP
Q15910Q96EB6IntAct
Q15910Q9BPX7MINT
Q15910Q9GZS3IntAct; MINT
Q15910Q9H5J8MINT
Q15910Q9NYL2MINT
Q15910Q9NYS7IntAct
Q15910Q9P0M6DIP
Q15910Q9UBC3IntAct;HPRD
Q15910Q9UBS4MINT
Q15910Q9UKV8DIP
Q15910Q9Y237IntAct
Q15910Q9Y2I6IntAct; MINT
Q15910Q9Y2U9IntAct; MINT
Q15910Q9Y6K1IntAct