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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX43
DEAD-box helicase 43
Chromosome 6 · 6q13
NCBI Gene: 55510Ensembl: ENSG00000080007.9HGNC: HGNC:18677UniProt: Q9NXZ2
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA helicase activitymRNA bindingRNA bindingskin diseasemuscle crampneoplasmbreast cancer
✦AI Summary

DDX43 is a DEAD-box RNA helicase with a conserved catalytic core and an N-terminal K-homology (KH) domain that preferentially binds single-stranded nucleic acids containing pyrimidine-rich sequences, particularly TTGT/UUGU motifs 12. In normal physiology, DDX43 plays an essential role in spermiogenesis, where its ATP hydrolysis activity regulates dynamic RNA-dependent chr6 remodeling processes, including histone-to-protamine replacement and post-meiotic chr6 condensation 3. Testis-specific DDX43 knockout results in male infertility with defective chr6 remodeling, highlighting its critical biological function in germ cell development. In cancer biology, DDX43 functions as a cancer-testis antigen aberrantly expressed in multiple malignancies. In chr6 myeloid leukemia (CML), DDX43 overexpression enhances cell survival and proliferation while inhibiting apoptosis by regulating the H19/miR-186 regulatory axis 45. DDX43 promoter hypomethylation represents a frequent epigenetic event in AML and CML, correlating with increased DDX43 expression 67. Notably, DDX43 hypomethylation paradoxically predicts favorable outcomes in AML patients 6, suggesting context-dependent roles in different leukemias. In breast cancer, DDX43 expression patterns correlate with tumor grade and subtype, with potential diagnostic utility 8. These findings identify DDX43 as a multifunctional regulator in both normal development and malignant transformation.

Sources cited
1
DDX43 is essential for chromatin remodeling during spermiogenesis, regulating histone-to-protamine replacement and post-meiotic chromatin condensation through ATP hydrolysis activity
PMID: 37120627
2
DDX43 overexpression in CML enhances survival and colony formation while inhibiting apoptosis through the H19/miR-186 axis
PMID: 29449695
3
DDX43 upregulation is associated with decitabine resistance in K562 cells and may contribute to drug resistance mechanisms
PMID: 30793488
4
DDX43 expression levels correlate with breast cancer clinicopathological features, nuclear grade, and tumor subtypes
PMID: 37200388
5
DDX43 promoter hypomethylation is frequent in AML and predicts favorable overall survival compared to methylated DDX43
PMID: 24656837
6
DDX43 is a monomer that prefers single-stranded DNA/RNA substrates longer than 12 nt with guanosine preference, requiring all domains for full binding affinity
PMID: 31623828
7
DDX43 promoter hypomethylation occurs in 25.3% of CML patients and correlates with increased DDX43 transcript expression
PMID: 23495895
8
The KH domain of DDX43 preferentially binds pyrimidine-rich sequences (TTGT/UUGU) and is critical for substrate specificity and unwinding processivity
PMID: 33199368
Disease Associationsⓘ20
skin diseaseOpen Targets
0.30Weak
muscle crampOpen Targets
0.19Weak
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
chronic myelogenous leukemiaOpen Targets
0.05Suggestive
melanomaOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
uterine fibroidOpen Targets
0.03Suggestive
atrophic gastritisOpen Targets
0.02Suggestive
injuryOpen Targets
0.02Suggestive
endometriosisOpen Targets
0.02Suggestive
ArthropathyOpen Targets
0.02Suggestive
eye diseaseOpen Targets
0.02Suggestive
ocular hypotensionOpen Targets
0.02Suggestive
Uterine leiomyomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
open-angle glaucomaOpen Targets
0.02Suggestive
Ovarian EndometriosisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAGEA1Protein interaction87%SAGE1Protein interaction87%GAGE1Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
97%
Lung
82%
Liver
32%
Heart
18%
Brain
3%
Gene Interaction Network
Click a node to explore
DDX43MAGEA1SAGE1GAGE1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXZ2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.44–0.79]
RankingsWhere DDX43 stands among ~20K protein-coding genes
  • #9,580of 20,598
    Most Researched44
  • #6,487of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedDDX43
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell RNA-seq uncovers dynamic processes orchestrated by RNA-binding protein DDX43 in chromatin remodeling during spermiogenesis.
PMID: 37120627
Nat Commun · 2023
1.00
2
Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression.
PMID: 29449695
Oncogene · 2018
0.90
3
Establishment and molecular characterization of decitabine-resistant K562 cells.
PMID: 30793488
J Cell Mol Med · 2019
0.80
4
DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer.
PMID: 37200388
PLoS One · 2023
0.70
5
DDX43 promoter is frequently hypomethylated and may predict a favorable outcome in acute myeloid leukemia.
PMID: 24656837
Leuk Res · 2014
0.60