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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX1
DEAD-box helicase 1
Chromosome 2 · 2p24.3
NCBI Gene: 1653Ensembl: ENSG00000079785.17HGNC: HGNC:2734UniProt: A3RJH1
309PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic stress granulemembranecleavage bodytRNA-splicing ligase complexneurodegenerative diseasegoutNephroblastomadeficiency anemia
✦AI Summary

DDX1 (DEAD-box helicase 1) is an ATP-dependent RNA helicase that plays crucial roles in RNA metabolism and genome stability. The protein exhibits DNA/RNA helicase activity and participates in both R-loop formation and resolution, contributing to transcription regulation and DNA repair processes 1. DDX1 demonstrates exceptional tight binding affinity to ADP, three orders of magnitude stronger than ATP binding, which may require nucleotide exchange factors for enzyme recycling 2. The protein shows strong cooperativity between RNA and ATP binding, reflected in its ATP hydrolysis activity 2. DDX1 undergoes post-translational modification through EZH2-mediated methylation at lysine 234, which disrupts its interaction with splicing factors and affects RNA processing, particularly promoting exon 14 skipping in MATR3 3. In cancer biology, DDX1 is frequently co-amplified with MYCN in neuroblastoma, mapping within 400 kb of the MYCN locus 4. Recent genomic studies have identified DDX1 as a novel risk gene for Alzheimer's disease and related dementia through rare variant analysis 5. Additionally, DDX1 interacts with YTHDF2 and eIF3F to enhance protein synthesis in ovarian cancer cells, facilitating translation of m6A-modified mRNAs encoding microtubule-associated proteins 6.

Sources cited
1
DDX1 participates in both R-loop formation and resolution
PMID: 37778731
2
DDX1 shows exceptional tight ADP binding and cooperativity between RNA and ATP binding
PMID: 25690890
3
DDX1 undergoes EZH2-mediated methylation affecting splicing factor interactions and MATR3 processing
PMID: 40610464
4
DDX1 is co-amplified with MYCN in neuroblastoma and maps within 400 kb of MYCN
PMID: 8834178
5
DDX1 identified as novel risk gene for Alzheimer's disease through rare variant analysis
PMID: 39129223
6
DDX1 interacts with YTHDF2 and eIF3F to enhance protein synthesis in cancer cells
PMID: 40480228
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
goutOpen Targets
0.35Weak
NephroblastomaOpen Targets
0.31Weak
deficiency anemiaOpen Targets
0.29Weak
Varicose veinsOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.21Weak
lysosomal storage diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
Parkinson diseaseOpen Targets
0.21Weak
Retinal hemorrhageOpen Targets
0.18Weak
placenta praeviaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
liver diseaseOpen Targets
0.08Suggestive
Non-Neoplastic Bile Duct DisorderOpen Targets
0.08Suggestive
peptic ulcer diseaseOpen Targets
0.08Suggestive
nail-patella syndromeOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RTRAFProtein interaction100%RTCBProtein interaction100%ZBTB8OSProtein interaction100%DHX36Protein interaction100%C2orf49Protein interaction100%DROSHAProtein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
84%
Bone Marrow
40%
Ovary
37%
Liver
34%
Lung
34%
Gene Interaction Network
Click a node to explore
DDX1RTRAFRTCBZBTB8OSDHX36C2orf49DROSHA
PROTEIN STRUCTURE
Preparing viewer…
PDB4XW3 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.33]
RankingsWhere DDX1 stands among ~20K protein-coding genes
  • #1,110of 20,598
    Most Researched309 · top 10%
  • #1,381of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedDDX1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Helicases in R-loop Formation and Resolution.
PMID: 37778731
J Biol Chem · 2023
1.00
2
DDX1 methylation mediated MATR3 splicing regulates intervertebral disc degeneration by initiating chromatin reprogramming.
PMID: 40610464
Nat Commun · 2025
0.90
3
DEAD-Box RNA Helicases and Genome Stability.
PMID: 34680866
Genes (Basel) · 2021
0.80
4
Interaction of SARS-CoV-2 Nucleocapsid Protein and Human RNA Helicases DDX1 and DDX3X Modulates Their Activities on Double-Stranded RNA.
PMID: 36982856
Int J Mol Sci · 2023
0.76
5
Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.
PMID: 39129223
Alzheimers Dement · 2024
0.70