Reviewed,
UniProtKB/Swiss-Prot Q92800 (EZH1_HUMAN)
Last modified
February 9, 2010.
Version 94.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
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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 |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
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.10 |
| 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. Note: Colocalizes with trimethylated 'Lys-27' of histone H3. Ref.10 |
| 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 |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | anatomical structure morphogenesis Ref.1 Traceable author statement. Source: ProtInc chromatin modificationInferred from electronic annotation. Source: UniProtKB-KW regulation of transcriptionInferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from direct assay. Source: HPA |
| Molecular function | DNA binding Inferred from electronic annotation. Source: InterPro chromatin binding Ref.1Traceable author statement. Source: ProtInc histone-lysine N-methyltransferase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 747 | 747 | Histone-lysine N-methyltransferase EZH1 | PRO_0000213990 | |||||
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 | 1 – 162 | 162 | MEIPN…VHGEE → MEEASCPTCSVNEACEWTPF SQK in isoform 5. | VSP_036384 | |||||
| Alternative sequence | 1 – 70 | 70 | Missing in isoform 4. | VSP_036385 | |||||
| Alternative sequence | 1 | 1 | M → MEDYSKM in isoform 2. | VSP_036386 | |||||
| Alternative sequence | 83 – 122 | 40 | Missing in isoform 3. | VSP_036387 | |||||
Experimental info | |||||||||
| Mutagenesis | 690 | 1 | H → A: Loss of methyltransferase activity. Ref.10 | ||||||
| Sequence conflict | 24 | 1 | M → I in BAG58503. Ref.5 | ||||||
| Sequence conflict | 353 | 1 | P → S in BAA25019. Ref.2 | ||||||
| Sequence conflict | 389 | 1 | D → Y in BAG65579. Ref.5 | ||||||
| Sequence conflict | 488 | 1 | N → Y in AAC50778. Ref.1 | ||||||
| Sequence conflict | 532 – 535 | 4 | DSTC → EAL in BAA25019. Ref.2 | ||||||
| Sequence conflict | 591 – 602 | 12 | ASEHW…KVVSC → PQSTGTARWFPV in BAA25019. Ref.2 | ||||||
| Sequence conflict | 631 | 1 | E → K in BAG61734. Ref.5 | ||||||
| Sequence conflict | 697 | 1 | Y → C in BAG58659. Ref.5 | ||||||
| Sequence conflict | 700 – 747 | 48 | VVMVN…ETDVL → GESQ in BAA25019. Ref.2 | ||||||
Sequences
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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: 8921387] [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). |
| [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: 9205841] [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [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. Nusbaum C.Nature 440:1045-1049(2006) [PubMed: 16625196] [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. 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). 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: 7490091] [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: 19026781] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, IDENTIFICATION IN THE PRC2/EED-EZH1 COMPLEX, MUTAGENESIS OF HIS-690. |
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. |
| IPI | IPI00023672. IPI00921136. IPI00921257. IPI00921284. IPI00921311. |
| RefSeq | NP_001982.2. |
| UniGene | Hs.194669 |
3D structure databases | |
| SMR | Q92800. Positions 503-732, 553-733. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q92800. |
Proteomic databases | |
| PRIDE | Q92800. |
Genome annotation databases | |
| Ensembl | ENST00000264646; ENSP00000264646; ENSG00000108799; Homo sapiens. [Genome view] ENST00000428826; ENSP00000404658; ENSG00000108799; Homo sapiens. [Genome view] |
| GeneID | 2145. |
| KEGG | hsa:2145. |
| UCSC | uc002iaz.1. human. |
Organism-specific databases | |
| CTD | 2145. |
| GeneCards | GC17M038105. |
| H-InvDB | HIX0013850. |
| HGNC | HGNC:3526. EZH1. |
| HPA | HPA005478. |
| MIM | 601674. gene. |
| PharmGKB | PA27938. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG11793. |
| HOVERGEN | Q92800. |
| InParanoid | Q92800. |
| PhylomeDB | Q92800. |
Gene expression databases | |
| ArrayExpress | Q92800. |
| Bgee | Q92800. |
| CleanEx | HS_EZH1. |
| Genevestigator | Q92800. |
| GermOnline | ENSG00000108799. Homo sapiens. |
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 | 8671. |
| SOURCE | Search... |
Entry information
| Entry name | EZH1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92800 Secondary accession number(s): A6NCH6 Q53XP3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


