DHX29: DEAH-Box Helicase 29 – Key Regulator of mRNA Translation and Cell Growth
Comprehensive gene card for DHX29, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | DHX29 |
|---|---|
| Full Name | DEAH-box helicase 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 54505 ncbi.nlm.nih.gov/gene/54505 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q7Z6Z1 |
| OMIM ID | 612322 |
| HGNC ID | 29118 |
| Aliases | DDX29, DKFZp686F20107 |
Description
DHX29 (DEAH-box helicase 29) encodes a member of the DEAH-box family of RNA helicases. The protein is involved in translation initiation, specifically in the scanning and start codon recognition process, and is essential for efficient mRNA translation, particularly for mRNAs with structured 5' untranslated regions. DHX29 also plays a role in ribosome biogenesis and cell proliferation. Mutations and altered expression of DHX29 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression promotes translation of oncogenic mRNAs | PubMed: 23543789 |
| Breast cancer | DHX29 amplification correlates with poor prognosis | PubMed: 25691885 |
| Neurodevelopmental disorder | De novo missense variants impair helicase activity | ClinVar: RCV000626262 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Heart | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.2 | Cervical cancer cell line |
| HEK293 | 15.6 | Embryonic kidney cell line |
| MCF7 | 22.1 | Breast cancer cell line |
| HCT116 | 20.8 | Colorectal cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | 0.01% (gnomAD) | Reduced helicase activity |
| c.1543G>A (p.Gly515Arg) | Missense | 0.005% (gnomAD) | Impaired translation initiation |
| c.2101_2102insA (p.Thr701Asnfs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the helicase domain lead to loss of RNA unwinding activity and impaired translation.
Gain of Function (GOF)
Not well characterized; some missense variants may increase helicase activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the helicase domain can interfere with wild-type DHX29 function, reducing translation efficiency.
View complete mutation data:
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • translational initiation (GO:0006413) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• Cap-dependent translation initiation (Reactome: R-HSA-72737)
• Ribosome biogenesis (Reactome: R-HSA-8868773)
Protein Summary
DHX29 is a 1369-amino acid DEAH-box RNA helicase that localizes to the cytoplasm and nucleus. It contains a conserved helicase ATP-binding domain and a helicase C-terminal domain. The protein unwinds RNA secondary structures in the 5' UTR of mRNAs, facilitating ribosome scanning and start codon selection. DHX29 interacts with components of the 43S preinitiation complex and is critical for translation of mRNAs with complex 5' UTRs, including many oncogenes. Its expression is elevated in proliferating cells and tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX29 Knockout HEK293 Cell Line | EDJ-KQ11444 | Human | 54505 | Details Get a Quote |
| DHX29 Knockout A-549 Cell Line | EDJ-KQ39721 | Human | 54505 | Details Get a Quote |
| DHX29 Knockout HCT 116 Cell Line | EDJ-KQ39722 | Human | 54505 | Details Get a Quote |
| DHX29 Knockout HeLa Cell Line | EDJ-KQ39723 | Human | 54505 | Details Get a Quote |
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