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Q92800 (EZH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Histone-lysine N-methyltransferase EZH1

EC=2.1.1.43
Alternative name(s):
ENX-2
Enhancer of zeste homolog 1
Gene names
Name:EZH1
Synonyms:KIAA0388
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length747 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.10

Catalytic activity

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Ref.10

Subunit structure

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). Ref.10

Subcellular location

Nucleus. Note: Colocalizes with trimethylated 'Lys-27' of histone H3. Ref.10

Sequence similarities

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

Contains 1 CXC domain.

Contains 1 SET domain.

Sequence caution

The sequence BAA20842.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92800-1)

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.
Isoform 2 (identifier: Q92800-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEDYSKM
Note: No experimental confirmation available.
Isoform 3 (identifier: Q92800-3)

The sequence of this isoform differs from the canonical sequence as follows:
     83-122: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q92800-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q92800-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: MEIPNPPTSK...NYDGKVHGEE → MEEASCPTCSVNEACEWTPFSQK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 747747Histone-lysine N-methyltransferase EZH1
PRO_0000213990

Regions

Domain504 – 606103CXC
Domain613 – 728116SET
Motif491 – 4966Nuclear localization signal Potential
Compositional bias524 – 60683Cys-rich

Natural variations

Alternative sequence1 – 162162MEIPN…VHGEE → MEEASCPTCSVNEACEWTPF SQK in isoform 5.
VSP_036384
Alternative sequence1 – 7070Missing in isoform 4.
VSP_036385
Alternative sequence11M → MEDYSKM in isoform 2.
VSP_036386
Alternative sequence83 – 12240Missing in isoform 3.
VSP_036387

Experimental info

Mutagenesis6901H → A: Loss of methyltransferase activity. Ref.10
Sequence conflict241M → I in BAG58503. Ref.5
Sequence conflict3531P → S in BAA25019. Ref.2
Sequence conflict3891D → Y in BAG65579. Ref.5
Sequence conflict4881N → Y in AAC50778. Ref.1
Sequence conflict532 – 5354DSTC → EAL in BAA25019. Ref.2
Sequence conflict591 – 60212ASEHW…KVVSC → PQSTGTARWFPV in BAA25019. Ref.2
Sequence conflict6311E → K in BAG61734. Ref.5
Sequence conflict6971Y → C in BAG58659. Ref.5
Sequence conflict700 – 74748VVMVN…ETDVL → GESQ in BAA25019. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 15, 1998. Version 2.
Checksum: 7CFC52269CDA011B

FASTA74785,271
        10         20         30         40         50         60 
MEIPNPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ EKTQILNEEW 

        70         80         90        100        110        120 
KKLRVQPVQS MKPVSGHPFL KKCTIESIFP GFASQHMLMR SLNTVALVPI MYSWSPLQQN 

       130        140        150        160        170        180 
FMVEDETVLC NIPYMGDEVK EEDETFIEEL INNYDGKVHG EEEMIPGSVL ISDAVFLELV 

       190        200        210        220        230        240 
DALNQYSDEE EEGHNDTSDG KQDDSKEDLP VTRKRKRHAI EGNKKSSKKQ FPNDMIFSAI 

       250        260        270        280        290        300 
ASMFPENGVP DDMKERYREL TEMSDPNALP PQCTPNIDGP NAKSVQREQS LHSFHTLFCR 

       310        320        330        340        350        360 
RCFKYDCFLH PFHATPNVYK RKNKEIKIEP EPCGTDCFLL LEGAKEYAML HNPRSKCSGR 

       370        380        390        400        410        420 
RRRRHHIVSA SCSNASASAV AETKEGDSDR DTGNDWASSS SEANSRCQTP TKQKASPAPP 

       430        440        450        460        470        480 
QLCVVEAPSE PVEWTGAEES LFRVFHGTYF NNFCSIARLL GTKTCKQVFQ FAVKESLILK 

       490        500        510        520        530        540 
LPTDELMNPS QKKKRKHRLW AAHCRKIQLK KDNSSTQVYN YQPCDHPDRP CDSTCPCIMT 

       550        560        570        580        590        600 
QNFCEKFCQC NPDCQNRFPG CRCKTQCNTK QCPCYLAVRE CDPDLCLTCG ASEHWDCKVV 

       610        620        630        640        650        660 
SCKNCSIQRG LKKHLLLAPS DVAGWGTFIK ESVQKNEFIS EYCGELISQD EADRRGKVYD 

       670        680        690        700        710        720 
KYMSSFLFNL NNDFVVDATR KGNKIRFANH SVNPNCYAKV VMVNGDHRIG IFAKRAIQAG 

       730        740 
EELFFDYRYS QADALKYVGI ERETDVL 

« Hide

Isoform 2 [UniParc].

Checksum: DC9F0DF9E60EFA55
Show »

FASTA75386,025
Isoform 3 [UniParc].

Checksum: 23A8A70A4B0A426F
Show »

FASTA70780,699
Isoform 4 [UniParc].

Checksum: 319C9A015FC818F1
Show »

FASTA67776,952
Isoform 5 [UniParc].

Checksum: E9C73223693D99DC
Show »

FASTA60868,961

References

« Hide 'large scale' references
[1]"Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1."
Abel K.J., Brody L.C., Valdes J.M., Erdos M.R., McKinley D.R., Castilla L.H., Merajver S.D., Couch F.J., Friedman L.S., Ostermeyer E.A., Lynch E.D., King M.-C., Welcsh P.L., Osborne-Lawrence S., Spillman M., Bowcock A.M., Collins F.S., Weber B.L.
Genomics 37:161-171(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Cloning and expression of a human/mouse Polycomb group gene, ENX-2/Enx-2."
Ogawa M., Hiraoka Y., Taniguchi K., Aiso S.
Biochim. Biophys. Acta 1395:151-158(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5).
Tissue: Brain, Hippocampus and Uterus.
[6]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[9]"Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21."
Rommens J.M., Durocher F., McArthur J., Tonin P., Leblanc J.-F., Allen T., Samson C., Ferri L., Narod S., Morgan K., Simard J.
Genomics 28:530-542(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 434-538.
[10]"Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms."
Margueron R., Li G., Sarma K., Blais A., Zavadil J., Woodcock C.L., Dynlacht B.D., Reinberg D.
Mol. Cell 32:503-518(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, IDENTIFICATION IN THE PRC2/EED-EZH1 COMPLEX, MUTAGENESIS OF HIS-690.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32659.1. [Q92800-1]
RefSeqNP_001982.2. NM_001991.3. [Q92800-1]
XP_005257201.1. XM_005257144.1. [Q92800-2]
XP_005257203.1. XM_005257146.1. [Q92800-3]
UniGeneHs.194669.

3D structure databases

ProteinModelPortalQ92800.
SMRQ92800. Positions 521-730.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108445. 10 interactions.
DIPDIP-58580N.

PTM databases

PhosphoSiteQ92800.

Polymorphism databases

DMDM3334182.

Proteomic databases

MaxQBQ92800.
PaxDbQ92800.
PRIDEQ92800.

Protocols and materials databases

DNASU2145.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000428826; ENSP00000404658; ENSG00000108799. [Q92800-1]
ENST00000435174; ENSP00000404071; ENSG00000108799. [Q92800-5]
ENST00000585893; ENSP00000467871; ENSG00000108799. [Q92800-3]
ENST00000590078; ENSP00000465220; ENSG00000108799. [Q92800-4]
ENST00000592743; ENSP00000466924; ENSG00000108799. [Q92800-1]
GeneID2145.
KEGGhsa:2145.
UCSCuc002iaz.3. human. [Q92800-1]
uc010cyo.1. human. [Q92800-5]
uc010wgu.2. human. [Q92800-2]
uc010wgv.2. human. [Q92800-3]

Organism-specific databases

CTD2145.
GeneCardsGC17M040852.
HGNCHGNC:3526. EZH1.
HPAHPA005478.
MIM601674. gene.
neXtProtNX_Q92800.
PharmGKBPA27938.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2940.
HOVERGENHBG002453.
InParanoidQ92800.
KOK17451.
OMASTQVYNY.
OrthoDBEOG7VB2DR.
PhylomeDBQ92800.
TreeFamTF314509.

Gene expression databases

ArrayExpressQ92800.
BgeeQ92800.
CleanExHS_EZH1.
GenevestigatorQ92800.

Family and domain databases

InterProIPR026489. CXC_dom.
IPR021654. EZH2_WD-Binding.
IPR001005. SANT/Myb.
IPR001214. SET_dom.
[Graphical view]
PfamPF11616. EZH2_WD-Binding. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SMARTSM00717. SANT. 2 hits.
SM00317. SET. 1 hit.
[Graphical view]
PROSITEPS51633. CXC. 1 hit.
PS50280. SET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEZH1. human.
GeneWikiEZH1.
GenomeRNAi2145.
NextBio8671.
PROQ92800.
SOURCESearch...

Entry information

Entry nameEZH1_HUMAN
AccessionPrimary (citable) accession number: Q92800
Secondary accession number(s): A6NCH6 expand/collapse secondary AC list , B4DIJ1, B4DIZ7, B4DSS2, B4E3R7, O43287, Q14459, Q53XP3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: July 9, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM