EZH1

Protein-coding gene in the species Homo sapiens
EZH1
Identifiers
AliasesEZH1, KMT6B, enhancer of zeste 1 polycomb repressive complex 2 subunit
External IDsOMIM: 601674; MGI: 1097695; HomoloGene: 20458; GeneCards: EZH1; OMA:EZH1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for EZH1
Genomic location for EZH1
Band17q21.2Start42,700,275 bp[1]
End42,745,049 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for EZH1
Genomic location for EZH1
Band11 D|11 64.37 cMStart101,081,941 bp[2]
End101,117,289 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • tibial nerve

  • dorsal motor nucleus of vagus nerve

  • Achilles tendon

  • left ovary

  • sural nerve

  • olfactory bulb

  • right ovary

  • canal of the cervix
Top expressed in
  • ciliary body

  • iris

  • motor neuron

  • retinal pigment epithelium

  • ankle

  • zygote

  • vestibular membrane of cochlear duct

  • dentate gyrus of hippocampal formation granule cell

  • granulocyte

  • neural layer of retina
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • methyltransferase activity
  • transferase activity
  • chromatin binding
  • histone-lysine N-methyltransferase activity
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • DNA binding
  • transcription corepressor activity
Cellular component
  • ESC/E(Z) complex
  • nucleus
  • nucleoplasm
  • telomere
Biological process
  • histone H3-K27 methylation
  • anatomical structure morphogenesis
  • methylation
  • regulation of transcription, DNA-templated
  • hippocampus development
  • transcription, DNA-templated
  • positive regulation of transcription by RNA polymerase II
  • chromatin organization
  • negative regulation of transcription by RNA polymerase II
  • chromatin remodeling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2145

14055

Ensembl

ENSG00000108799

ENSMUSG00000006920

UniProt

Q92800

P70351

RefSeq (mRNA)

NM_001991
NM_001321079
NM_001321081
NM_001321082

NM_007970

RefSeq (protein)

NP_001308008
NP_001308010
NP_001308011
NP_001982

NP_031996
NP_001390736
NP_001390738
NP_001390739
NP_001390740

NP_001390741
NP_001390742
NP_001390743
NP_001390744
NP_001390745
NP_001390747
NP_001390750
NP_001390751

Location (UCSC)Chr 17: 42.7 – 42.75 MbChr 11: 101.08 – 101.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Histone-lysine N-methyltransferase EZH1 is an enzyme that in humans is encoded by the EZH1 gene.[5][6]

Function

In mice, EZH1 and EZH2 cogovern histone H3K27 trimethylation and are essential for hair follicle homeostasis and wound repair.[7] EZH1 also complements EZH2 in maintaining stem cell identity and executing pluripotency.[8]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108799 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006920 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Abel KJ, Brody LC, Valdes JM, Erdos MR, McKinley DR, Castilla LH, Merajver SD, Couch FJ, Friedman LS, Ostermeyer EA, Lynch ED, King MC, Welcsh PL, Osborne-Lawrence S, Spillman M, Bowcock AM, Collins FS, Weber BL (Feb 1997). "Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1". Genomics. 37 (2): 161–71. doi:10.1006/geno.1996.0537. PMID 8921387.
  6. ^ "Entrez Gene: EZH1 enhancer of zeste homolog 1 (Drosophila)".
  7. ^ Ezhkova E, Lien WH, Stokes N, Pasolli HA, Silva JM, Fuchs E (Mar 2011). "EZH1 and EZH2 cogovern histone H3K27 trimethylation and are essential for hair follicle homeostasis and wound repair". Genes Dev. 25 (5): 485–98. doi:10.1101/gad.2019811. PMC 3049289. PMID 21317239.
  8. ^ Shen X, Liu Y, Hsu YJ, Fujiwara Y, Kim J, Mao X, Yuan GC, Orkin SH (Nov 2008). "EZH1 mediates methylation on histone H3 lysine 27 and complements EZH2 in maintaining stem cell identity and executing pluripotency". Mol Cell. 32 (4): 491–502. doi:10.1016/j.molcel.2008.10.016. PMC 2630502. PMID 19026780.

Further reading

  • Rommens JM, Durocher F, McArthur J, et al. (1996). "Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21". Genomics. 28 (3): 530–42. doi:10.1006/geno.1995.1185. PMID 7490091.
  • Brody LC, Abel KJ, Castilla LH, et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
  • Osborne-Lawrence S, Welcsh PL, Spillman M, et al. (1995). "Direct selection of expressed sequences within a 1-Mb region flanking BRCA1 on human chromosome 17q21". Genomics. 25 (1): 248–55. doi:10.1016/0888-7543(95)80132-6. PMID 7774925.
  • Friedman LS, Ostermeyer EA, Lynch ED, et al. (1995). "22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors". Genomics. 25 (1): 256–63. doi:10.1016/0888-7543(95)80133-7. PMID 7774926.
  • Nagase T, Ishikawa K, Nakajima D, et al. (1997). "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". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
  • Ogawa M, Hiraoka Y, Taniguchi K, Aiso S (1998). "Cloning and expression of a human/mouse Polycomb group gene, ENX-2/Enx-2". Biochim. Biophys. Acta. 1395 (2): 151–8. doi:10.1016/s0167-4781(97)00156-5. PMID 9473645.
  • Jones CA, Ng J, Peterson AJ, et al. (1998). "The Drosophila esc and E(z) proteins are direct partners in polycomb group-mediated repression". Mol. Cell. Biol. 18 (5): 2825–34. doi:10.1128/mcb.18.5.2825. PMC 110661. PMID 9566901.
  • van Lohuizen M, Tijms M, Voncken JW, et al. (1998). "Interaction of mouse polycomb-group (Pc-G) proteins Enx1 and Enx2 with Eed: indication for separate Pc-G complexes". Mol. Cell. Biol. 18 (6): 3572–9. doi:10.1128/MCB.18.6.3572. PMC 108938. PMID 9584197.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.


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