Human Gene EZH1 (ENST00000590078.5) from GENCODE V44
  Description: 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, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. (from UniProt Q92800)
RefSeq Summary (NM_001991): EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009].
Gencode Transcript: ENST00000590078.5
Gencode Gene: ENSG00000108799.13
Transcript (Including UTRs)
   Position: hg38 chr17:42,702,385-42,745,037 Size: 42,653 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg38 chr17:42,702,532-42,727,670 Size: 25,139 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:42,702,385-42,745,037)mRNA (may differ from genome)Protein (677 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: EZH1_HUMAN
DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase EZH1; EC=2.1.1.43; AltName: Full=ENX-2; AltName: Full=Enhancer of zeste homolog 1;
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, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation.
CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
SUBUNIT: 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.
SIMILARITY: Belongs to the histone-lysine methyltransferase family. EZ subfamily.
SIMILARITY: Contains 1 CXC domain.
SIMILARITY: Contains 1 SET domain.
SEQUENCE CAUTION: Sequence=BAA20842.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.03 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1141.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.70211-0.269 Picture PostScript Text
3' UTR -36.60147-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026489 - CXC_dom
IPR021654 - EZH2_WD-Binding
IPR001005 - SANT/Myb
IPR001214 - SET_dom

Pfam Domains:
PF11616 - WD repeat binding protein EZH2
PF00856 - SET domain

ModBase Predicted Comparative 3D Structure on Q92800
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0008168 methyltransferase activity
GO:0016740 transferase activity
GO:0018024 histone-lysine N-methyltransferase activity

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0009653 anatomical structure morphogenesis
GO:0021766 hippocampus development
GO:0032259 methylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0070734 histone H3-K27 methylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0035098 ESC/E(Z) complex


-  Descriptions from all associated GenBank mRNAs
  AB002386 - Homo sapiens mRNA for KIAA0388 gene.
BC015882 - Homo sapiens enhancer of zeste homolog 1 (Drosophila), mRNA (cDNA clone MGC:10186 IMAGE:3908776), complete cds.
AL833159 - Homo sapiens mRNA; cDNA DKFZp686I1911 (from clone DKFZp686I1911).
U50315 - Human enhancer of zeste homolog 1 (EZH1) mRNA, complete cds.
AK295626 - Homo sapiens cDNA FLJ55920 complete cds, highly similar to Enhancer of zeste homolog 1.
AK295853 - Homo sapiens cDNA FLJ52594 complete cds, highly similar to Enhancer of zeste homolog 1.
AK299887 - Homo sapiens cDNA FLJ53575 complete cds, highly similar to Enhancer of zeste homolog 1.
AK304835 - Homo sapiens cDNA FLJ50626 complete cds, highly similar to Enhancer of zeste homolog 1.
AB004818 - Homo sapiens mRNA for ENX-2, complete cds.
AK310399 - Homo sapiens cDNA, FLJ17441.
AK309121 - Homo sapiens cDNA, FLJ99162.
AK311237 - Homo sapiens cDNA, FLJ18279.
JD554888 - Sequence 535912 from Patent EP1572962.
JD080950 - Sequence 61974 from Patent EP1572962.
JD366895 - Sequence 347919 from Patent EP1572962.
JD255011 - Sequence 236035 from Patent EP1572962.
JD180729 - Sequence 161753 from Patent EP1572962.
JD271386 - Sequence 252410 from Patent EP1572962.
JD144185 - Sequence 125209 from Patent EP1572962.
L77597 - Homo sapiens (clone SEL210) 17q YAC (303G8) RNA.
BT009782 - Homo sapiens enhancer of zeste homolog 1 (Drosophila) mRNA, complete cds.
AB383871 - Synthetic construct DNA, clone: pF1KSDA0388, Homo sapiens EZH1 gene for enhancer of zeste homolog 1, complete cds, without stop codon, in Flexi system.
KJ891131 - Synthetic construct Homo sapiens clone ccsbBroadEn_00525 EZH1 gene, encodes complete protein.
AK310556 - Homo sapiens cDNA, FLJ17598.
L38934 - Homo sapiens GT211 mRNA, partial ORF.
CU677485 - Synthetic construct Homo sapiens gateway clone IMAGE:100017481 5' read EZH1 mRNA.
JD469925 - Sequence 450949 from Patent EP1572962.
JD472669 - Sequence 453693 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prc2Pathway - The PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails

-  Other Names for This Gene
  Alternate Gene Symbols: A6NCH6, AK304835, B4DIJ1, B4DIZ7, B4DSS2, B4E3R7, ENST00000590078.1, ENST00000590078.2, ENST00000590078.3, ENST00000590078.4, EZH1_HUMAN, KIAA0388, O43287, Q14459, Q53XP3, Q92800, uc010wgt.1, uc010wgt.2, uc010wgt.3
UCSC ID: ENST00000590078.5
RefSeq Accession: NM_001991
Protein: Q92800 (aka EZH1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.