DDX31
DEAD-box helicase 31, a putative RNA helicase involved in ribosome biogenesis and cell proliferation
Gene Information Card
| Symbol | DDX31 |
|---|---|
| Full Name | DEAD-box helicase 31 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 64794 ncbi.nlm.nih.gov/gene/64794 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9H8H2 |
| OMIM ID | 612276 |
| HGNC ID | 16710 |
| Aliases | FLJ11273, MGC12966 |
Description
DDX31 encodes a member of the DEAD-box family of RNA helicases, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). This protein is involved in ribosome biogenesis, particularly in the processing of pre-rRNA and assembly of the large ribosomal subunit. It also plays a role in cell proliferation and may act as a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Overexpression of DDX31 promotes cell proliferation and invasion; knockdown reduces tumor growth in vitro and in vivo. | PMID: 25605274 |
| Colorectal cancer | DDX31 is upregulated in colorectal cancer tissues; silencing DDX31 inhibits cell proliferation and induces apoptosis. | PMID: 29393419 |
| Hepatocellular carcinoma | DDX31 expression is elevated in HCC; it regulates cell cycle progression and is associated with poor prognosis. | PMID: 31019238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Colon | 6.1 | Low |
| Liver | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 11.8 | High expression |
| HepG2 (liver cancer) | 9.4 | Medium expression |
| HEK293 (embryonic kidney) | 7.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1573G>A (p.Glu525Lys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1846_1847insA (p.Thr616Asnfs*2) | Frameshift | <0.1% | Predicted loss-of-function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr616Asnfs*2) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • ribosome biogenesis (GO:0042254) | • nucleolus (GO:0005730) |
| • RNA secondary structure unwinding (GO:0010501) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
DDX31 is a 731-amino acid protein with a molecular weight of approximately 82 kDa. It contains a conserved DEAD-box helicase domain and localizes to the nucleolus. The protein exhibits ATP-dependent RNA helicase activity and is essential for pre-rRNA processing and ribosome assembly. It interacts with other ribosome biogenesis factors such as NPM1 and RPL5.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX31 Knockout HEK293 Cell Line | EDJ-KQ13115 | Human | 64794 | Details Get a Quote |
| DDX31 Knockout A-549 Cell Line | EDJ-KQ41194 | Human | 64794 | Details Get a Quote |
| DDX31 Knockout HCT 116 Cell Line | EDJ-KQ42427 | Human | 64794 | Details Get a Quote |
| DDX31 Knockout HeLa Cell Line | EDJ-KQ42428 | Human | 64794 | Details Get a Quote |
