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Protein

Histone-lysine N-methyltransferase EZH1

Gene

EZH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates '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. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation.1 Publication

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N6-methyl-L-lysine-[histone].1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, Methyltransferase, Repressor, Transferase
Biological processTranscription, Transcription regulation
LigandS-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase EZH1 (EC:2.1.1.43)
Alternative name(s):
ENX-2
Enhancer of zeste homolog 1
Gene namesi
Name:EZH1
Synonyms:KIAA0388
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108799.12
HGNCiHGNC:3526 EZH1
MIMi601674 gene
neXtProtiNX_Q92800

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi690H → A: Loss of methyltransferase activity. 1 Publication1

Organism-specific databases

DisGeNETi2145
OpenTargetsiENSG00000108799
PharmGKBiPA27938

Chemistry databases

ChEMBLiCHEMBL2189116
GuidetoPHARMACOLOGYi2835

Polymorphism and mutation databases

BioMutaiEZH1
DMDMi3334182

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002139901 – 747Histone-lysine N-methyltransferase EZH1Add BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki327Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ92800
PaxDbiQ92800
PeptideAtlasiQ92800
PRIDEiQ92800
ProteomicsDBi75480
75481 [Q92800-2]
75482 [Q92800-3]
75483 [Q92800-4]
75484 [Q92800-5]
TopDownProteomicsiQ92800-5 [Q92800-5]

PTM databases

iPTMnetiQ92800
PhosphoSitePlusiQ92800

Expressioni

Gene expression databases

BgeeiENSG00000108799
CleanExiHS_EZH1
ExpressionAtlasiQ92800 baseline and differential
GenevisibleiQ92800 HS

Organism-specific databases

HPAiHPA005478
HPA077684

Interactioni

Subunit structurei

Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2/EED-EZH1 is less abundant than the PRC2/EED-EZH2 complex, has weak methyltransferase activity and compacts chromatin in the absence of the methyltransferase cofactor S-adenosyl-L-methionine (SAM).1 Publication

Protein-protein interaction databases

BioGridi108445, 11 interactors
DIPiDIP-58580N
IntActiQ92800, 13 interactors
STRINGi9606.ENSP00000404658

Chemistry databases

BindingDBiQ92800

Structurei

3D structure databases

ProteinModelPortaliQ92800
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini504 – 606CXCPROSITE-ProRule annotationAdd BLAST103
Domaini613 – 728SETPROSITE-ProRule annotationAdd BLAST116

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi491 – 496Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi524 – 606Cys-richAdd BLAST83

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1079 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00780000121845
HOVERGENiHBG002453
InParanoidiQ92800
KOiK17451
OMAiATPNVYK
OrthoDBiEOG091G09L0
PhylomeDBiQ92800
TreeFamiTF314509

Family and domain databases

CDDicd00167 SANT, 1 hit
InterProiView protein in InterPro
IPR026489 CXC_dom
IPR032926 EZH1
IPR021654 EZH1/EZH2
IPR001005 SANT/Myb
IPR001214 SET_dom
IPR033467 Tesmin/TSO1-like_CXC
PANTHERiPTHR22884:SF333 PTHR22884:SF333, 1 hit
PfamiView protein in Pfam
PF11616 EZH2_WD-Binding, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM01114 CXC, 1 hit
SM00717 SANT, 2 hits
SM00317 SET, 1 hit
PROSITEiView protein in PROSITE
PS51633 CXC, 1 hit
PS50280 SET, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92800-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEIPNPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ
60 70 80 90 100
EKTQILNEEW KKLRVQPVQS MKPVSGHPFL KKCTIESIFP GFASQHMLMR
110 120 130 140 150
SLNTVALVPI MYSWSPLQQN FMVEDETVLC NIPYMGDEVK EEDETFIEEL
160 170 180 190 200
INNYDGKVHG EEEMIPGSVL ISDAVFLELV DALNQYSDEE EEGHNDTSDG
210 220 230 240 250
KQDDSKEDLP VTRKRKRHAI EGNKKSSKKQ FPNDMIFSAI ASMFPENGVP
260 270 280 290 300
DDMKERYREL TEMSDPNALP PQCTPNIDGP NAKSVQREQS LHSFHTLFCR
310 320 330 340 350
RCFKYDCFLH PFHATPNVYK RKNKEIKIEP EPCGTDCFLL LEGAKEYAML
360 370 380 390 400
HNPRSKCSGR RRRRHHIVSA SCSNASASAV AETKEGDSDR DTGNDWASSS
410 420 430 440 450
SEANSRCQTP TKQKASPAPP QLCVVEAPSE PVEWTGAEES LFRVFHGTYF
460 470 480 490 500
NNFCSIARLL GTKTCKQVFQ FAVKESLILK LPTDELMNPS QKKKRKHRLW
510 520 530 540 550
AAHCRKIQLK KDNSSTQVYN YQPCDHPDRP CDSTCPCIMT QNFCEKFCQC
560 570 580 590 600
NPDCQNRFPG CRCKTQCNTK QCPCYLAVRE CDPDLCLTCG ASEHWDCKVV
610 620 630 640 650
SCKNCSIQRG LKKHLLLAPS DVAGWGTFIK ESVQKNEFIS EYCGELISQD
660 670 680 690 700
EADRRGKVYD KYMSSFLFNL NNDFVVDATR KGNKIRFANH SVNPNCYAKV
710 720 730 740
VMVNGDHRIG IFAKRAIQAG EELFFDYRYS QADALKYVGI ERETDVL
Length:747
Mass (Da):85,271
Last modified:July 15, 1998 - v2
Checksum:i7CFC52269CDA011B
GO
Isoform 2 (identifier: Q92800-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEDYSKM

Note: No experimental confirmation available.
Show »
Length:753
Mass (Da):86,025
Checksum:iDC9F0DF9E60EFA55
GO
Isoform 3 (identifier: Q92800-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-122: Missing.

Note: No experimental confirmation available.
Show »
Length:707
Mass (Da):80,699
Checksum:i23A8A70A4B0A426F
GO
Isoform 4 (identifier: Q92800-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Note: No experimental confirmation available.
Show »
Length:677
Mass (Da):76,952
Checksum:i319C9A015FC818F1
GO
Isoform 5 (identifier: Q92800-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: MEIPNPPTSK...NYDGKVHGEE → MEEASCPTCSVNEACEWTPFSQK

Note: No experimental confirmation available.
Show »
Length:608
Mass (Da):68,961
Checksum:iE9C73223693D99DC
GO

Sequence cautioni

The sequence BAA20842 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24M → I in BAG58503 (PubMed:14702039).Curated1
Sequence conflicti353P → S in BAA25019 (PubMed:9473645).Curated1
Sequence conflicti389D → Y in BAG65579 (PubMed:14702039).Curated1
Sequence conflicti488N → Y in AAC50778 (PubMed:8921387).Curated1
Sequence conflicti532 – 535DSTC → EAL in BAA25019 (PubMed:9473645).Curated4
Sequence conflicti591 – 602ASEHW…KVVSC → PQSTGTARWFPV in BAA25019 (PubMed:9473645).CuratedAdd BLAST12
Sequence conflicti631E → K in BAG61734 (PubMed:14702039).Curated1
Sequence conflicti697Y → C in BAG58659 (PubMed:14702039).Curated1
Sequence conflicti700 – 747VVMVN…ETDVL → GESQ in BAA25019 (PubMed:9473645).CuratedAdd BLAST48

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0363841 – 162MEIPN…VHGEE → MEEASCPTCSVNEACEWTPF SQK in isoform 5. 1 PublicationAdd BLAST162
Alternative sequenceiVSP_0363851 – 70Missing in isoform 4. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0363861M → MEDYSKM in isoform 2. 1 Publication1
Alternative sequenceiVSP_03638783 – 122Missing in isoform 3. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50315 mRNA Translation: AAC50778.1
AB004818 mRNA Translation: BAA25019.1
AB002386 mRNA Translation: BAA20842.2 Different initiation.
BT009782 mRNA Translation: AAP88784.1
AK304835 mRNA Translation: BAG65579.1
AK295626 mRNA Translation: BAG58503.1
AK295853 mRNA Translation: BAG58659.1
AK299887 mRNA Translation: BAG61734.1
AC100793 Genomic DNA No translation available.
CH471152 Genomic DNA Translation: EAW60870.1
BC015882 mRNA Translation: AAH15882.1
L38934 mRNA Translation: AAB59574.1
CCDSiCCDS32659.1 [Q92800-1]
CCDS82129.1 [Q92800-3]
RefSeqiNP_001308008.1, NM_001321079.1 [Q92800-2]
NP_001308010.1, NM_001321081.1
NP_001308011.1, NM_001321082.1 [Q92800-3]
NP_001982.2, NM_001991.4 [Q92800-1]
UniGeneiHs.194669

Genome annotation databases

EnsembliENST00000428826; ENSP00000404658; ENSG00000108799 [Q92800-1]
ENST00000585893; ENSP00000467871; ENSG00000108799 [Q92800-3]
ENST00000590078; ENSP00000465220; ENSG00000108799 [Q92800-4]
ENST00000592743; ENSP00000466924; ENSG00000108799 [Q92800-1]
GeneIDi2145
KEGGihsa:2145
UCSCiuc002iaz.4 human [Q92800-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEZH1_HUMAN
AccessioniPrimary (citable) accession number: Q92800
Secondary accession number(s): A6NCH6
, B4DIJ1, B4DIZ7, B4DSS2, B4E3R7, O43287, Q14459, Q53XP3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: June 20, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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