DHX15: DEAH-Box Helicase 15
RNA Helicase Involved in Splicing and Ribosome Biogenesis
Gene Information Card
| Symbol | DHX15 |
|---|---|
| Full Name | DEAH-box helicase 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 1665 ncbi.nlm.nih.gov/gene/1665 |
| Ensembl ID | ENSG00000109606 |
| UniProt ID | O43143 |
| OMIM ID | 603403 |
| HGNC ID | 2737 |
| Aliases | DDX15, DBP1, HRH2 |
Description
DHX15 encodes a member of the DEAH-box family of RNA helicases. The protein functions as an ATP-dependent RNA helicase involved in pre-mRNA splicing, ribosome biogenesis, and RNA processing. It is a component of the spliceosome and plays a role in the release of spliced mRNA from the spliceosome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | DHX15 mutations may alter RNA splicing, contributing to leukemogenesis | PMID: 27895058 |
| Myelodysplastic syndrome | Somatic mutations in DHX15 are recurrent in MDS, affecting splicing fidelity | PMID: 27895058 |
| Colorectal cancer | DHX15 overexpression correlates with poor prognosis; may promote tumor growth via RNA processing | PMID: 31474350 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 35.2 | High |
| Bone marrow | 18.5 | Medium |
| Lung | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.1 | Leukemia cell line |
| HeLa | 15.4 | Cervical cancer cell line |
| HEK293 | 14.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.1% in AML | Alters helicase activity |
| c.1330G>A (p.Glu444Lys) | Missense | 0.05% in MDS | May disrupt RNA binding |
| c.1861C>T (p.Arg621Trp) | Missense | 0.03% in colorectal cancer | Unknown |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations reduce ATPase/helicase activity, impairing splicing.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Possible for mutations that disrupt spliceosome assembly without complete loss of function.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • mRNA splicing | • via spliceosome |
| • ribosome biogenesis | • nucleus |
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA surveillance pathway (KEGG: hsa03015)
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
Protein Summary
DHX15 is a 795-amino acid DEAH-box RNA helicase that localizes to the nucleus. It contains conserved helicase domains and is essential for pre-mRNA splicing, specifically in the second catalytic step. It also participates in ribosomal RNA processing and has been implicated in cancer through mutations that alter RNA metabolism.
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