Human Gene DPH5 (uc001dtt.2) Description and Page Index
Description: Homo sapiens diphthamide biosynthesis 5 (DPH5), transcript variant 1, mRNA. RefSeq Summary (NM_001077394): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:101,455,180-101,491,362 Size: 36,183 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr1:101,455,964-101,490,999 Size: 35,036 Coding Exon Count: 7
ID:DPH5_HUMAN DESCRIPTION: RecName: Full=Diphthine synthase; EC=188.8.131.52; AltName: Full=Diphthamide biosynthesis methyltransferase; FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the trimethylation of the amino group of the modified target histidine residue in translation elongation factor 2 (EF- 2), to form an intermediate called diphthine. The three successive methylation reactions represent the second step of diphthamide biosynthesis (By similarity). CATALYTIC ACTIVITY: 3 S-adenosyl-L-methionine + 2-(3-carboxy-3- aminopropyl)-L-histidine = 3 S-adenosyl-L-homocysteine + 2-(3- carboxy-3-(trimethylammonio)propyl)-L-histidine. PATHWAY: Protein modification; peptidyl-diphthamide biosynthesis. SIMILARITY: Belongs to the diphthine synthase family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DPH5 CDC HuGE Published Literature: DPH5 Positive Disease Associations: Heart Rate
, Perphenazine Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H2P9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.