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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPH7
diphthamide biosynthesis 7
Chromosome 9 · 9q34.3
NCBI Gene: 92715Ensembl: ENSG00000148399.14HGNC: HGNC:25199UniProt: Q9BTV6
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein histidyl modification to diphthamidediphthine methylesterase activitycytoplasmneurodegenerative diseasemalunion fractureprostate cancerFamilial prostate cancer
✦AI Summary

DPH7 (diphthamide biosynthesis 7) catalyzes a critical demethylation step in diphthamide biosynthesis, converting methylated diphthine to diphthine 1. This enzyme functions as a methylesterase that operates between reactions catalyzed by DPH5 and DPH6 in the multi-step pathway generating diphthamide, a post-translational modification of histidine residue 715 on translation elongation factor 2 (eEF2) 1. Diphthamide is essential for translational fidelity and normal protein synthesis in eukaryotes 2. The modification represents the molecular target of bacterial ADP-ribosylating toxins including diphtheria toxin and Pseudomonas exotoxin A 3. Loss of diphthamide biosynthesis, whether through DPH gene inactivation, renders cells resistant to these toxins but paradoxically hypersensitizes cells to TNF-mediated apoptosis through pre-activation of NF-κB and death receptor pathways 3. Clinically, DPH7 variants and mutations in the diphthamide biosynthesis pathway cause autosomal-recessive diphthamide deficiency syndrome, presenting with intellectual disability, developmental abnormalities, and seizures 4. Additionally, DPH7-PTP4A3 fusion genes have been identified in endometrial cancer, correlating with advanced disease stage, higher grade, and recurrence 5. DPH7 is also implicated as a Vif-dependent HIV target in infected primary CD4+ T cells 6.

Sources cited
1
DPH7 catalyzes demethylation of methylated diphthine to produce diphthine, a previously unknown step in diphthamide biosynthesis pathway
PMID: 24739148
2
Diphthamide modification of eEF2 is essential for translational fidelity and plant growth
PMID: 35817801
3
Diphthamide on eEF2 is target of diphtheria toxin and Pseudomonas exotoxin A; loss of diphthamide renders cells resistant to these toxins but hypersensitive to TNF-mediated apoptosis
PMID: 26261303
4
DPH gene variants cause autosomal-recessive diphthamide deficiency syndrome with intellectual disability and developmental abnormalities
PMID: 37675463
5
DPH7-PTP4A3 fusion gene found in endometrial cancer, associated with advanced stage, higher grade, and recurrence
PMID: 30888986
6
DPH7 identified as Vif-dependent target in HIV-infected primary human CD4+ T cells
PMID: 30857592
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
malunion fractureOpen Targets
0.31Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
atopic eczemaOpen Targets
0.05Suggestive
sialolithiasisOpen Targets
0.04Suggestive
Genu valgumOpen Targets
0.04Suggestive
Genu varumOpen Targets
0.04Suggestive
ocular hypotensionOpen Targets
0.04Suggestive
cholelithiasisOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.02Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.00Suggestive
HIV infectionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
dementiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EEF2Protein interaction99%DPH6Protein interaction94%DPH3Protein interaction81%DPH1Protein interaction79%DPH2Protein interaction79%DPH5Protein interaction79%
Tissue Expression6 tissues
Ovary
100%
Liver
77%
Bone Marrow
77%
Lung
61%
Heart
60%
Brain
24%
Gene Interaction Network
Click a node to explore
DPH7EEF2DPH6DPH3DPH1DPH2DPH5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BTV6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.84–1.37]
RankingsWhere DPH7 stands among ~20K protein-coding genes
  • #14,411of 20,598
    Most Researched19
  • #14,288of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedDPH7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of new fusion genes and their clinical significance in endometrial cancer.
PMID: 30888986
Chin Med J (Engl) · 2019
1.00
2
Dph7 catalyzes a previously unknown demethylation step in diphthamide biosynthesis.
PMID: 24739148
J Am Chem Soc · 2014
0.90
3
Development and Validation of a Prognostic Model based on 11 E3-related Genes for Colon Cancer Patients.
PMID: 38898815
Curr Pharm Des · 2024
0.80
4
Translational fidelity and growth of Arabidopsis require stress-sensitive diphthamide biosynthesis.
PMID: 35817801
Nat Commun · 2022
0.70
5
Functional proteomic atlas of HIV infection in primary human CD4+ T cells.
PMID: 30857592
Elife · 2019
0.60