EHMT1

EHMT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEHMT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KMT1D, bA188C12.1, euchromatic histone lysine methyltransferase 1, EHMT1-IT1, KLEFS1
External IDsMGI: 1924933 HomoloGene: 11698 GeneCards: EHMT1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.3Start137,618,963 bp[1]
End137,870,016 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

79813

77683

Ensembl

ENSG00000181090

ENSMUSG00000036893

UniProt

Q9H9B1

Q5DW34

RefSeq (mRNA)

NM_001012518
NM_001109686
NM_001109687
NM_172545

RefSeq (protein)

NP_001012536
NP_001103156
NP_001103157
NP_766133

Location (UCSC)Chr 9: 137.62 – 137.87 MbChr 2: 24.79 – 24.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

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.[5]

Clinical significance

Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome).[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000181090 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036893 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 3 "Entrez Gene: Euchromatic histone-lysine N-methyltransferase 1". Retrieved 2012-03-04.

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.
  • 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.
  • 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.
  • 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. 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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.