EHMT1

From Wikipedia, the free encyclopedia
Euchromatic histone-lysine N-methyltransferase 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsEHMT1; EUHMTASE1; Eu-HMTase1; FP13812; GLP; GLP1; KMT1D; bA188C12.1
External IDsOMIM: 607001 HomoloGene: 11698 ChEMBL: 6031 GeneCards: EHMT1 Gene
EC number2.1.1.43
Orthologs
SpeciesHumanMouse
Entrez7981377683
EnsemblENSG00000181090ENSMUSG00000036893
UniProtQ9H9B1Q5DW34
RefSeq (mRNA)NM_001145527NM_001012518
RefSeq (protein)NP_001138999NP_001012536
Location (UCSC)Chr 9:
140.51 – 140.76 Mb		Chr 2:
24.79 – 24.92 Mb
PubMed search
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Euchromatic histone-lysine N-methyltransferase 1 is a protein that in humans is encoded by the EHMT1 gene.[1]

The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: Euchromatic histone-lysine N-methyltransferase 1". Retrieved 2012-03-04T01:24:04.662-08:00. 

Further reading

  • Ogawa, H.; Ishiguro, K.; Gaubatz, S.; Livingston, D. M.; Nakatani, Y. (2002). "A Complex with Chromatin Modifiers That Occupies E2F- and Myc-Responsive Genes in G0 Cells". Science 296 (5570): 1132–1136. doi:10.1126/science.1069861. PMID 12004135. 
  • Kleefstra, T.; Smidt, M.; Banning, M. J.; Oudakker, A. R.; Van Esch, H.; De Brouwer, A. P.; Nillesen, W.; Sistermans, E. A.; Hamel, B. C.; De Bruijn, D.; Fryns, J. P.; Yntema, H. G.; Brunner, H. G.; De Vries, B. B.; Van Bokhoven, H. (2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics 42 (4): 299–306. doi:10.1136/jmg.2004.028464. PMC 1736026. PMID 15805155. 
  • Cebrian, A.; Pharoah, P. D.; Ahmed, S.; Ropero, S.; Fraga, M. F.; Smith, P. L.; Conroy, D.; Luben, R.; Perkins, B.; Easton, D. F.; Dunning, A. M.; Esteller, M.; Ponder, B. A. (2005). "Genetic variants in epigenetic genes and breast cancer risk". Carcinogenesis 27 (8): 1661–1669. doi:10.1093/carcin/bgi375. PMID 16501248. 
  • Ueda, J.; Tachibana, M.; Ikura, T.; Shinkai, Y. (2006). "Zinc Finger Protein Wiz Links G9a/GLP Histone Methyltransferases to the Co-repressor Molecule CtBP". Journal of Biological Chemistry 281 (29): 20120–20128. doi:10.1074/jbc.M603087200. PMID 16702210. 
  • Kleefstra, T.; Brunner, H. G.; Amiel, J.; Oudakker, A. R.; Nillesen, W. M.; Magee, A.; Geneviève, D.; Cormier-Daire, V. R.; Van Esch, H.; Fryns, J. P.; Hamel, B. C. J.; Sistermans, E. A.; De Vries, B. B. A.; Van Bokhoven, H. (2006). "Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome". The American Journal of Human Genetics 79 (2): 370–377. doi:10.1086/505693. PMC 1559478. PMID 16826528. 
  • Heo, K.; Kim, B.; Kim, K.; Choi, J.; Kim, H.; Zhan, Y.; Ranish, J. A.; An, W. (2007). "Isolation and Characterization of Proteins Associated with Histone H3 Tails in Vivo". Journal of Biological Chemistry 282 (21): 15476–15483. doi:10.1074/jbc.M610270200. PMID 17403666. 
  • Collins, R. E.; Northrop, J. P.; Horton, J. R.; Lee, D. Y.; Zhang, X.; Stallcup, M. R.; Cheng, X. (2008). "The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules". Nature Structural & Molecular Biology 15 (3): 245–250. doi:10.1038/nsmb.1384. PMC 2586904. PMID 18264113. 
  • Shirato, H.; Ogawa, S.; Nakajima, K.; Inagawa, M.; Kojima, M.; Tachibana, M.; Shinkai, Y.; Takeuchi, T. (2008). "A Jumonji (Jarid2) Protein Complex Represses cyclin D1 Expression by Methylation of Histone H3-K9". Journal of Biological Chemistry 284 (2): 733–739. doi:10.1074/jbc.M804994200. PMID 19010785. 
  • Biron, V. L.; Dort, J. C. (2008). "Epigenetic perspective into head and neck cancer through in silico gene expression profiling of histone lysine methyltransferases". Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 37 (3): 366–372. PMID 19128641. 
  • Kleefstra, T.; Van Zelst-Stams, W. A.; Nillesen, W. M.; Cormier-Daire, V.; Houge, G.; Foulds, N.; Van Dooren, M.; Willemsen, M. H.; Pfundt, R.; Turner, A.; Wilson, M.; McGaughran, J.; Rauch, A.; Zenker, M.; Adam, M. P.; Innes, M.; Davies, C.; López, A. G. -M.; Casalone, R.; Weber, A.; Brueton, L. A.; Navarro, A. D.; Bralo, M. P.; Venselaar, H.; Stegmann, S. P. A.; Yntema, H. G.; Van Bokhoven, H.; Brunner, H. G. (2009). "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics 46 (9): 598–606. doi:10.1136/jmg.2008.062950. PMID 19264732. 
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