DDX23: DEAD-Box Helicase 23
A key RNA helicase involved in spliceosome assembly and RNA processing, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | DDX23 |
|---|---|
| Full Name | DEAD-box helicase 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 9416 ncbi.nlm.nih.gov/gene/9416 |
| Ensembl ID | ENSG00000174231 |
| UniProt ID | Q9BUQ8 |
| OMIM ID | 612172 |
| HGNC ID | 2747 |
| Aliases | PRP28, U5-100K, SNRNP100 |
Description
DDX23 encodes a member of the DEAD-box family of RNA helicases, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). This protein is a component of the U5 small nuclear ribonucleoprotein (snRNP) complex and is essential for pre-mRNA splicing, specifically in the unwinding of RNA duplexes during spliceosome assembly. DDX23 is involved in the first catalytic step of splicing and interacts with other spliceosomal factors. Mutations and altered expression of DDX23 have been linked to retinal degeneration and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Impaired splicing of retinal transcripts due to DDX23 mutations leads to photoreceptor degeneration. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of DDX23 promotes cell proliferation and invasion via spliceosome dysregulation. | COSMIC, NCBI |
| Breast cancer | DDX23 upregulation correlates with poor prognosis and altered RNA splicing patterns. | COSMIC, NCBI |
| Hepatocellular carcinoma | DDX23 knockdown reduces tumor growth and metastasis in vitro and in vivo. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Heart | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HepG2 | 18.7 | Hepatocellular carcinoma |
| MCF7 | 16.2 | Breast cancer |
| A549 | 14.9 | Lung cancer |
| K562 | 12.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1063C>T (p.Arg355Trp) | Missense | Rare | Loss of helicase activity; associated with retinitis pigmentosa |
| c.1742A>G (p.Asn581Ser) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| c.2155G>A (p.Gly719Arg) | Missense | Rare | Potential gain-of-function; observed in cancer samples |
| c.1234_1236del (p.Lys412del) | In-frame deletion | Rare | Alters protein stability; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the helicase domain (e.g., p.Arg355Trp) impair ATPase and RNA unwinding activity, leading to splicing defects.
Gain of Function (GOF)
Overexpression and certain missense variants (e.g., p.Gly719Arg) may enhance spliceosome activity, promoting oncogenic splicing.
Dominant Negative (DN)
Not well characterized; some mutations may interfere with wild-type DDX23 function in spliceosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • Pre-mRNA splicing | • Spliceosomal complex assembly |
| • Nucleus | • U5 snRNP |
Pathways
• mRNA Splicing - Major Pathway
• Spliceosome
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
DDX23 is a 100 kDa DEAD-box RNA helicase that localizes to the nucleus and is a core component of the U5 snRNP. It catalyzes ATP-dependent RNA unwinding required for conformational changes in the spliceosome during pre-mRNA splicing. The protein contains a conserved DEAD-box domain and a helicase C-terminal domain. DDX23 is essential for cell viability and its dysregulation contributes to retinal degeneration and tumorigenesis.
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