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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDI1
DDI proteasomal shuttling factor 1
Chromosome 11 · 11q22.3
NCBI Gene: 414301Ensembl: ENSG00000170967.5HGNC: HGNC:18961UniProt: Q8WTU0
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to hydroxyureaprotein bindingregulation of DNA stabilityproteasomal protein catabolic processcoronary artery diseaseangina pectorismyocardial infarctionMyocardial Ischemia
✦AI Summary

DDI1 (DNA damage-inducible 1) is a multidomain protease that functions as a proteasomal shuttle factor linking the proteasome to DNA replication processes. The protein contains conserved ubiquitin-like (UBL), retroviral protease (RVP), and ubiquitin-associated (UBA) domains that confer distinct activities 1. DDI1 acts as an aspartic-type endopeptidase involved in proteasomal degradation of specific proteins and plays a critical role in DNA replication stress response 2. The protein is essential for cellular survival following replication stress, working with DDI2 to remove RTF2 from stalled replication forks, thereby allowing cell cycle progression and maintaining genome integrity 2. DDI1 also participates in DNA-protein crosslink (DPC) repair, protecting cells against oxidative stress-induced DNA damage 3. Recent evidence suggests DDI1 functions in K48-ubiquitin-dependent proteolysis, where it generates fragments from both soluble and membrane proteins as part of a novel degradative pathway called CUT-UP 4. The protein is regulated by UBE3A-mediated ubiquitination 5 and shows potential therapeutic relevance, as DDI1 depletion enhances susceptibility to certain drugs and compromises parasite development in malaria 1.

Sources cited
1
DDI1 contains UBL, RVP, and UBA domains and is involved in proteasomal degradation and DNA-protein crosslink removal
PMID: 36657610
2
DDI1 is involved in DNA replication stress response and works with DDI2 to remove RTF2 from stalled forks
PMID: 31276951
3
DDI1 protects against oxidative stress and is involved in DNA-protein crosslink repair
PMID: 40702097
4
DDI1 functions in K48-ubiquitin-dependent proteolysis as part of the CUT-UP degradative pathway
PMID: 41530178
5
DDI1 is regulated by UBE3A-mediated ubiquitination
PMID: 31130875
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.40Moderate
angina pectorisOpen Targets
0.40Weak
myocardial infarctionOpen Targets
0.39Weak
Myocardial IschemiaOpen Targets
0.39Weak
coronary atherosclerosisOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
heart diseaseOpen Targets
0.29Weak
intermediate coronary syndromeOpen Targets
0.25Weak
narcolepsyOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.24Weak
chronic obstructive pulmonary diseaseOpen Targets
0.24Weak
breast carcinomaOpen Targets
0.23Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.23Weak
ovarian dysfunctionOpen Targets
0.23Weak
endocrine neoplasmOpen Targets
0.23Weak
migraine disorderOpen Targets
0.22Weak
coronary artery bypassOpen Targets
0.21Weak
heart valve prosthesisOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADRM1Protein interaction82%NRIP3Protein interaction81%DDI2Shared pathway80%UBQLN1Protein interaction80%PSMD4Protein interaction78%UBQLN2Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DDI1ADRM1NRIP3DDI2UBQLN1PSMD4UBQLN2
PROTEIN STRUCTURE
Preparing viewer…
PDB3S8I · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.56–1.34]
RankingsWhere DDI1 stands among ~20K protein-coding genes
  • #12,963of 20,598
    Most Researched25
  • #14,008of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedDDI1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasmodium DDI1 is a potential therapeutic target and important chromatin-associated protein.
PMID: 36657610
Int J Parasitol · 2023
1.00
2
Wss1 and Ddi1 DNA-Protein crosslink repair proteases protect Saccharomyces cerevisiae and Candida albicans against oxidative stress.
PMID: 40702097
Sci Rep · 2025
0.90
3
The Effects of
PMID: 37511326
Int J Mol Sci · 2023
0.80
4
The yeast proteases Ddi1 and Wss1 are both involved in the DNA replication stress response.
PMID: 31276951
DNA Repair (Amst) · 2019
0.70
5
K48-ubiquitin-dependent proteases cut-up post-ER proteins.
PMID: 41530178
Nat Commun · 2026
0.60