Reviewed, UniProtKB/Swiss-Prot P70351 (EZH1_MOUSE)

Names and origin

Protein names

Recommended name:
    Histone-lysine N-methyltransferase EZH1
    EC=2.1.1.43
Alternative name(s):
    Enhancer of zeste homolog 1
    ENX-2

Gene names

Name:	Ezh1
Synonyms:	Enx2

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	747 AA.
Sequence status	Complete.
Protein existence	Evidence 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 EZH1-containing complexes, it is less abundant in embryonic stem cells and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. Ref.9
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
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).
Subcellular location	Nucleus By similarity. Note: Colocalizes with trimethylated 'Lys-27' of histone H3 By similarity. Ref.9
Tissue specificity	Expressed at high levels in kidney, adrenal gland, testis and brain. Ref.2
Sequence similarities	Belongs to the histone-lysine methyltransferase family. EZ subfamily. Contains 1 SET domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	S-adenosyl-L-methionine
Molecular function	Chromatin regulator Methyltransferase Repressor Transferase
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from direct assay. Source: MGI
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P70351-1)

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: P70351-2)

The sequence of this isoform differs from the canonical sequence as follows:
     555-747: QNRFPGCRCK...VGIERETDVF → KSTLLSPSSTQVVGLGVPRLFSPAP

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 747	747	Histone-lysine N-methyltransferase EZH1		PRO_0000213991
Regions
	Domain	612 – 732	121	SET
	Motif	491 – 496	6	Nuclear localization signal Potential
	Compositional bias	524 – 606	83	Cys-rich
Natural variations
	Alternative sequence	555 – 747	193	QNRFP…ETDVF → KSTLLSPSSTQVVGLGVPRL FSPAP in isoform 2.		VSP_036388
Experimental info
	Sequence conflict	84	1	T → A in BAE32680. Ref.5
	Sequence conflict	446	1	H → Y in AAD54021. Ref.2
	Sequence conflict	452	1	N → Y in AAD54021. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 43CECFBDF3E49192	FASTA	747	85,188
	10 20 30 40 50 60 MDIASPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ EKTQILNEEW 70 80 90 100 110 120 KKLRVQPVQP MKPVSGHPFL KKCTIESIFP GFDSQDMLMR SLNTVALVPI MYSWSPLQQN 130 140 150 160 170 180 FMVEDETVLC NIPYMGDEVK EEDETFIEEL INNYDGKVHG EEEMIPGSVL ISDAVFLELV 190 200 210 220 230 240 DALNQYSDEE EDGHNDPSDG 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 RRRRHPVVSA SCSNASASAM AETKEGDSDR DTGNDWASSS SEANSRCQTP TKQKASPAPA 430 440 450 460 470 480 QLCVVEAPSE PVEWTGAEES LFRVFHGTYF NNFCSIARLL GTKTCKQVFQ FAVKESLILK 490 500 510 520 530 540 LPTDELMNPA QKKKRKHRLW AAHCRKIQLK KDNNSTQVYN YQPCDHPDRP CDSTCPCIMT 550 560 570 580 590 600 QNFCEKFCQC SPDCQNRFPG 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 ERETDVF
	Isoform 2. Checksum: B42CCD4108D013EA	FASTA	579	65,730
	10 20 30 40 50 60 MDIASPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ EKTQILNEEW 70 80 90 100 110 120 KKLRVQPVQP MKPVSGHPFL KKCTIESIFP GFDSQDMLMR SLNTVALVPI MYSWSPLQQN 130 140 150 160 170 180 FMVEDETVLC NIPYMGDEVK EEDETFIEEL INNYDGKVHG EEEMIPGSVL ISDAVFLELV 190 200 210 220 230 240 DALNQYSDEE EDGHNDPSDG 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 RRRRHPVVSA SCSNASASAM AETKEGDSDR DTGNDWASSS SEANSRCQTP TKQKASPAPA 430 440 450 460 470 480 QLCVVEAPSE PVEWTGAEES LFRVFHGTYF NNFCSIARLL GTKTCKQVFQ FAVKESLILK 490 500 510 520 530 540 LPTDELMNPA QKKKRKHRLW AAHCRKIQLK KDNNSTQVYN YQPCDHPDRP CDSTCPCIMT 550 560 570 QNFCEKFCQC SPDCKSTLLS PSSTQVVGLG VPRLFSPAP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mammalian homologues of the Polycomb-group gene Enhancer of zeste mediate gene silencing in Drosophila heterochromatin and at S. cerevisiae telomeres." Laible G., Wolf A., Dorn R., Reuter G., Nislow C., Lebersorger A., Popkin D., Pillus L., Jenuwein T. EMBO J. 16:3219-3232(1997) [PubMed: 9214638] [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: 9473645] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]	"The murine polycomb-group genes ezh1 and ezh2 map close to hox gene clusters on mouse chromosomes 11 and 6." Laible G., Haynes A.R., Lebersorger A., O'Carroll D., Mattei M.-G., Denny P., Brown S.D.M., Jenuwein T. Mamm. Genome 10:311-314(1999) [PubMed: 10051331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Strain: 129/Sv.
[4]	"High-throughput sequence identification of gene coding variants within alcohol-related QTLs." Ehringer M.A., Thompson J., Conroy O., Xu Y., Yang F., Canniff J., Beeson M., Gordon L., Bennett B., Johnson T.E., Sikela J.M. Mamm. Genome 12:657-663(2001) [PubMed: 11471062] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Strain: ILS and ISS.
[5]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Strain: C57BL/6J and NOD. Tissue: Aorta, Cerebellum, Corpora quadrigemina, Hippocampus and Vein.
[6]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed: 19468303] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[7]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Strain: FVB/N. Tissue: Mammary tumor.
[9]	"EZH1 mediates methylation on histone H3 lysine 27 and complements EZH2 in maintaining stem cell identity and executing pluripotency." Shen X., Liu Y., Hsu Y.-J., Fujiwara Y., Kim J., Mao X., Yuan G.-C., Orkin S.H. Mol. Cell 32:491-502(2008) [PubMed: 19026780] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE PRC2/EED-EZH1 COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U60453 mRNA. Translation: AAC53279.1. AB004817 mRNA. Translation: BAA25018.1. Different initiation. AF104360 Genomic DNA. Translation: AAD54021.1. AF483490 mRNA. Translation: AAL90764.1. Different initiation. AF483491 mRNA. Translation: AAL90765.1. Different initiation. AK045374 mRNA. Translation: BAC32334.1. AK138942 mRNA. Translation: BAE23827.1. Different initiation. AK140694 mRNA. Translation: BAE24446.1. Different initiation. AK154565 mRNA. Translation: BAE32680.1. Different initiation. AK164192 mRNA. Translation: BAE37674.1. Different initiation. AL590969 Genomic DNA. Translation: CAM19569.1. AL590969 Genomic DNA. Translation: CAM19570.1. CH466677 Genomic DNA. Translation: EDL03899.1. Different initiation. BC007135 mRNA. Translation: AAH07135.1. Different initiation.
IPI	IPI00123127. IPI00761469.
RefSeq	NP_031996.1. XP_001478998.1.
UniGene	Mm.5027
3D structure databases
SMR	P70351. Positions 504-732, 554-733.
ModBase	Search...
Protein-protein interaction databases
STRING	P70351.
Proteomic databases
PRIDE	P70351.
Genome annotation databases
Ensembl	ENSMUST00000092648; ENSMUSP00000090318; ENSMUSG00000006920; Mus musculus. [Genome view] ENSMUST00000107284; ENSMUSP00000102905; ENSMUSG00000006920; Mus musculus. [Genome view] ENSMUST00000107285; ENSMUSP00000102906; ENSMUSG00000006920; Mus musculus. [Genome view]
GeneID	14055.
KEGG	mmu:100044129. mmu:14055.
UCSC	uc007lnu.1. mouse.
Organism-specific databases
CTD	14055.
MGI	MGI:1097695. Ezh1.
Phylogenomic databases
eggNOG	roNOG14487.
HOVERGEN	P70351.
InParanoid	P70351.
OrthoDB	EOG9JMB81.
PhylomeDB	P70351.
Gene expression databases
ArrayExpress	P70351.
Bgee	P70351.
CleanEx	MM_EZH1.
Genevestigator	P70351.
GermOnline	ENSMUSG00000006920. Mus musculus.
Family and domain databases
InterPro	IPR001005. SANT_DNA-bd. IPR001214. SET_dom. [Graphical view]
Pfam	PF00856. SET. 1 hit. [Graphical view]
SMART	SM00717. SANT. 2 hits. SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS50280. SET. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	285008.
SOURCE	Search...

Entry information

Entry name

EZH1_MOUSE

Accession

Primary (citable) accession number: P70351
Secondary accession number(s): A2A4K5 , Q3TPR1, Q3U3V5, Q3UU02, Q8BR85, Q922L1, Q9R089

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	February 1, 1997
Last modified:	February 9, 2010
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)