DPH5

Diphthine synthase is an enzyme that in humans is encoded by the DPH5 gene.^[5][6]

DPH5
Identifiers
Aliases	DPH5, CGI-30, HSPC143, NPD015, AD-018, diphthamide biosynthesis 5
External IDs	OMIM: 611075; MGI: 1916990; HomoloGene: 6471; GeneCards: DPH5; OMA:DPH5 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.2 Start 100,989,623 bp[1] End 101,026,088 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G1 Start 115,887,837 bp[2] End 115,934,361 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas gonad left ovary buccal mucosa cell right adrenal gland ganglionic eminence right adrenal cortex right ovary tibialis anterior muscle ventricular zone Top expressed in Paneth cell yolk sac primitive streak endothelial cell of lymphatic vessel motor neuron fossa blastocyst Ileal epithelium condyle blastocyst More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity diphthine synthase activity Cellular component cytosol cellular component Biological process methylation metabolism peptidyl-diphthamide biosynthetic process from peptidyl-histidine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51611 69740 Ensembl ENSG00000117543 ENSMUSG00000033554 UniProt Q9H2P9 Q9CWQ0 RefSeq (mRNA) NM_001077394 NM_001077395 NM_015958 NM_027193 RefSeq (protein) NP_001070862 NP_001070863 NP_057042 NP_081469 Location (UCSC) Chr 1: 100.99 – 101.03 Mb Chr 3: 115.89 – 115.93 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis.

The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene.^[6]