EHMT1

EHMT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IGQ, 2RFI, 3B7B, 3B95, 3FPD, 3HNA, 3MO0, 3MO2, 3MO5, 3SW9, 3SWC, 4I51
Identifiers
Aliases	EHMT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KMT1D, bA188C12.1, euchromatic histone lysine methyltransferase 1, EHMT1-IT1, KLEFS1
External IDs	OMIM: 607001; MGI: 1924933; HomoloGene: 11698; GeneCards: EHMT1; OMA:EHMT1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.3 Start 137,618,992 bp End 137,870,016 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 A3 Start 24,789,928 bp End 24,919,614 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve left testis right testis left ovary body of uterus right hemisphere of cerebellum skin of leg granulocyte ectocervix right ovary Top expressed in hand Rostral migratory stream superior cervical ganglion otolith organ utricle maxillary prominence mandibular prominence tail of embryo foot ganglionic eminence More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase activity transferase activity histone methyltransferase activity (H3-K9 specific) zinc ion binding C2H2 zinc finger domain binding histone-lysine N-methyltransferase activity metal ion binding histone methyltransferase activity (H3-K27 specific) protein-lysine N-methyltransferase activity protein binding p53 binding Cellular component nucleoplasm chromosome nucleus nuclear body Biological process response to fungicide embryo development negative regulation of transcription by RNA polymerase II peptidyl-lysine monomethylation histone H3-K27 methylation DNA methylation methylation histone H3-K9 methylation peptidyl-lysine dimethylation histone lysine methylation histone methylation negative regulation of transcription, DNA-templated negative regulation of G0 to G1 transition chromatin organization regulation of embryonic development positive regulation of cold-induced thermogenesis regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79813 77683 Ensembl ENSG00000181090 ENSMUSG00000036893 UniProt Q9H9B1 Q5DW34 RefSeq (mRNA) NM_001145527 NM_024757 NM_001039765 NM_001354259 NM_001354263 NM_001354611 NM_001354612 NM_001012518 NM_001109686 NM_001109687 NM_172545 RefSeq (protein) NP_001138999 NP_079033 NP_001341188 NP_001341192 NP_001341540 NP_001341541 NP_001012536 NP_001103156 NP_001103157 NP_766133 Location (UCSC) Chr 9: 137.62 – 137.87 Mb Chr 2: 24.79 – 24.92 Mb PubMed search
Wikidata
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Euchromatic histone-lysine N-methyltransferase 1, also known as G9a-like protein (GLP), is a protein that in humans is encoded by the EHMT1 gene.

Function

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.

Clinical significance

Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome).

Further reading

• Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y (May 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 MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H (Apr 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 PD, Ahmed S, Ropero S, Fraga MF, Smith PL, Conroy D, Luben R, Perkins B, Easton DF, Dunning AM, Esteller M, Ponder BA (Aug 2006). "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 (Jul 2006). "Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP". The Journal of Biological Chemistry. 281 (29): 20120–20128. doi:10.1074/jbc.M603087200. PMID 16702210.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H (Aug 2006). "Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome". 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 JA, An W (May 2007). "Isolation and characterization of proteins associated with histone H3 tails in vivo". The Journal of Biological Chemistry. 282 (21): 15476–15483. doi:10.1074/jbc.M610270200. PMID 17403666.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Collins RE, Northrop JP, Horton JR, Lee DY, Zhang X, Stallcup MR, Cheng X (Mar 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 (Jan 2009). "A jumonji (Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9". The Journal of Biological Chemistry. 284 (2): 733–739. doi:10.1074/jbc.M804994200. PMID 19010785.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Biron VL, Dort JC (Jun 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 WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG (Sep 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.
• Ohno H, Shinoda K, Ohyama K, Sharp LZ, Kajimura S (Dec 2013). "EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex". Nature. 504 (7478): 163–7. doi:10.1038/nature12652. PMC 3855638. PMID 24196706.