Protein-coding gene in the species Homo sapiens
Diphthamide biosynthesis protein 1 is a protein that in humans is encoded by the DPH1 gene .[ 5] [ 6] [ 7] It encodes a protein that performs posttranslational modification of histidine -715[ 8] on eukaryotic translation elongation factor 2 to diphthamide . This modification appears to be important in the translation of Cyclin D in ovarian cells . DPH1 is mutated in 90% of ovarian cancers end stage, usually by loss of heterozygosity .
^ a b c GRCh38: Ensembl release 89: ENSG00000108963 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078789 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Phillips NJ, Zeigler MR, Deaven LL (May 1996). "A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3" . Cancer Lett . 102 (1–2): 85–90. doi :10.1016/0304-3835(96)04169-9 . PMID 8603384 .
^ Liu S, Milne GT, Kuremsky JG, Fink GR, Leppla SH (Oct 2004). "Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2" . Mol Cell Biol . 24 (21): 9487–97. doi :10.1128/MCB.24.21.9487-9497.2004 . PMC 522255 . PMID 15485916 .
^ "Entrez Gene: DPH1 DPH1 homolog (S. cerevisiae)" .
^ Webb TR, Cross SH, McKie L, Edgar R, Vizor L, Harrison J, Peters J, Jackson IJ (2008). "Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development" . J. Cell Sci . 121 (Pt 19): 3140–5. doi :10.1242/jcs.035550 . PMC 2592597 . PMID 18765564 . Diphthamide modification is present in all eukaryotic organisms, in which it is restricted to a histidine residue of translation elongation factor 2 (eEF2, also known as EFT1; position 715 in mammals and 699 in yeast)
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