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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DHPS
deoxyhypusine synthase
Chromosome 19 · 19p13.13
NCBI Gene: 1725Ensembl: ENSG00000095059.18HGNC: HGNC:2869UniProt: P49366
87PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein maturationidentical protein bindingspermidine metabolic processprotein bindingneurodevelopmental disorder with seizures and speech and walking impairmentsyndromic intellectual disabilityfamilial hypercholesterolemiaGlobal developmental delay
✦AI Summary

DHPS (deoxyhypusine synthase) catalyzes the NAD-dependent transfer of a butylamine moiety from spermidine to a critical lysine residue of eIF5A precursor protein, forming the intermediate deoxyhypusine 1. This post-translational modification, termed hypusination, is essential for eIF5A maturation and function 2. DHPS operates through a well-defined enzymatic mechanism with a specific substrate binding pocket 2. Mechanistically, DHPS-mediated hypusination regulates diverse cellular processes. In intestinal epithelial cells, hypusinated eIF5A enhances translation of aldehyde detoxification enzymes, protecting against infectious colitis and colorectal cancer development 34. In melanoma, DHPS-mediated hypusination promotes proliferation by regulating m6A modification through METTL3 and facilitates vasculogenic mimicry via FGFR2 and c-KIT expression 56. In ovarian cancer, DHPS elevation correlates with poor survival and promotes epithelial-to-mesenchymal transition via the TGFβ pathway 7. DHPS dysregulation associates with multiple diseases. Patients with ulcerative colitis and Crohn's disease exhibit reduced DHPS expression and hypusinated eIF5A levels 3. The DHPS/eIF5A pathway plays essential roles in various cancers, immune-related diseases, glucose metabolism disorders, neurological diseases, and aging 2. DHPS inhibitors represent promising therapeutic targets for cancer treatment and potentially other disease indications 256.

Sources cited
1
DHPS catalyzes NAD-dependent spermidine cleavage and transfer of butylamine to eIF5A lysine residue to form deoxyhypusine
PMID: 30661771
2
DHPS/eIF5A hypusination pathway plays regulatory roles in cancers, immune-related diseases, glucose metabolism disorders, neurological diseases, and aging; DHPS has well-defined structure and substrate specificity
PMID: 37683595
3
DHPS and hypusinated eIF5A are reduced in ulcerative colitis and Crohn's disease patients; hypusination enhances translation of aldehyde detoxification enzymes and prevents colitis and colorectal cancer
PMID: 37271289
4
DHPS and hypusinated eIF5A are induced during EPEC/Citrobacter rodentium infection; DHPS deletion worsens infectious colitis parameters and reduces aldehyde detoxification
PMID: 39673545
5
DHPS promotes melanoma proliferation by activating eIF5A hypusination to regulate METTL3 m6A methylation and mRNA stability; DHPS inhibitor GL-1 directly inhibits DHPS-eIF5A binding
PMID: 38952061
6
DHPS regulates melanoma vasculogenic mimicry by promoting FGFR2 and c-KIT expression; DHPS inhibitor 7k shows anti-melanoma efficacy
PMID: 39393437
7
DHPS is amplified in ovarian cancer with elevated expression correlating to poor survival; DHPS knockout or inhibition suppresses tumor growth and metastasis by blocking EMT and TGFβ pathway
PMID: 39762448
Disease Associationsⓘ21
neurodevelopmental disorder with seizures and speech and walking impairmentOpen Targets
0.64Moderate
syndromic intellectual disabilityOpen Targets
0.55Moderate
familial hypercholesterolemiaOpen Targets
0.47Moderate
Global developmental delayOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.46Moderate
SeizureOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Abnormal muscle toneOpen Targets
0.46Moderate
Abnormality of head or neckOpen Targets
0.46Moderate
Atypical behaviorOpen Targets
0.46Moderate
EEG abnormalityOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.29Weak
HypercholesterolemiaOpen Targets
0.26Weak
metabolic diseaseOpen Targets
0.23Weak
Disorder of lipid metabolismOpen Targets
0.19Weak
Other metabolic diseaseOpen Targets
0.14Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
Neurodevelopmental disorder with seizures and speech and walking impairmentUniProt
Pathogenic Variants5
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)Pathogenic
not provided|Neurodevelopmental disorder with seizures and speech and walking impairment|DHPS-related disorder
★★☆☆2024→ Residue 173
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)Likely pathogenic
not provided|Neurodevelopmental disorder with seizures and speech and walking impairment|DHPS-related disorder
★★☆☆2023→ Residue 305
NM_001930.4(DHPS):c.709dup (p.Thr237fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 237
NM_001930.4(DHPS):c.785-1G>CLikely pathogenic
not provided
★☆☆☆2023
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs)Likely pathogenic
not provided
★☆☆☆2021→ Residue 73
View on ClinVar ↗
Related Genes
EIF5AProtein interaction100%DOHHProtein interaction100%EIF5A2Protein interaction99%EIF5AL1Protein interaction92%MAPK3Protein interaction84%DHFRProtein interaction79%
Tissue Expression6 tissues
Ovary
100%
Brain
100%
Liver
88%
Lung
85%
Bone Marrow
9%
Heart
7%
Gene Interaction Network
Click a node to explore
DHPSEIF5ADOHHEIF5A2EIF5AL1MAPK3DHFR
PROTEIN STRUCTURE
Preparing viewer…
PDB6XXJ · 1.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.43–0.82]
RankingsWhere DHPS stands among ~20K protein-coding genes
  • #5,471of 20,598
    Most Researched87
  • #3,534of 5,498
    Most Pathogenic Variants5
  • #6,994of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedDHPS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypusination-induced DHPS/eIF5A pathway as a new therapeutic strategy for human diseases: A mechanistic review and structural classification of DHPS inhibitors.
PMID: 37683595
Biomed Pharmacother · 2023
1.00
2
Microbiome-generated antifolates.
PMID: 41527254
FEBS Lett · 2026
0.90
3
Hypusination in intestinal epithelial cells protects mice from infectious colitis.
PMID: 39673545
Gut Microbes · 2024
0.80
4
Hypusination Maintains Intestinal Homeostasis and Prevents Colitis and Carcinogenesis by Enhancing Aldehyde Detoxification.
PMID: 37271289
Gastroenterology · 2023
0.70
5
DHPS-Mediated Hypusination Regulates METTL3 Self-m6A-Methylation Modification to Promote Melanoma Proliferation and the Development of Novel Inhibitors.
PMID: 38952061
Adv Sci (Weinh) · 2024
0.60