DDX11: DEAD/H-Box Helicase 11
A key DNA helicase in genome stability and Warsaw breakage syndrome
Gene Information Card
| Symbol | DDX11 |
|---|---|
| Full Name | DEAD/H-Box Helicase 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 1663 ncbi.nlm.nih.gov/gene/1663 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q96FC9 |
| OMIM ID | 601150 |
| HGNC ID | 2736 |
| Aliases | CHL1, KRG2, WABS |
Description
DDX11 encodes a DEAD/H-box DNA helicase involved in sister chromatid cohesion, DNA replication, and repair. Mutations in DDX11 cause Warsaw breakage syndrome (WABS), characterized by chromosomal instability, microcephaly, and growth retardation. The protein localizes to replication forks and interacts with cohesion factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Warsaw breakage syndrome (WABS) | Loss-of-function mutations disrupt helicase activity, impairing sister chromatid cohesion and DNA repair, leading to chromosomal breakage | OMIM #613398; ClinVar; PMID: 20301541 |
| Colorectal cancer | Somatic DDX11 mutations may contribute to chromosomal instability in tumorigenesis | COSMIC; PMID: 23542688 |
| Breast cancer | Altered DDX11 expression associated with genomic instability in breast tumors | COSMIC; PMID: 25670082 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 4.3 | Not detected |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| K562 | 8.8 | Leukemia cell line |
| MCF7 | 7.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2443C>T (p.Arg815*) | Nonsense | Rare | Loss of helicase domain; associated with WABS |
| c.1876G>A (p.Gly626Arg) | Missense | Rare | Impaired ATPase activity; WABS |
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Reduced DNA binding; WABS |
| c.1330C>T (p.Arg444*) | Nonsense | Rare | Premature truncation; WABS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg815*, p.Gly626Arg) reduce or abolish helicase activity, leading to defective sister chromatid cohesion and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; WABS is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity (GO:0003678) | • ATP binding (GO:0005524) |
| • ATP-dependent DNA helicase activity (GO:0008026) | • sister chromatid cohesion (GO:0007062) |
| • DNA replication (GO:0006260) | • nucleus (GO:0005634) |
Pathways
• Sister chromatid cohesion
• DNA replication
• Fanconi anemia pathway (indirect)
Protein Summary
DDX11 is a 961-amino-acid DEAD/H-box DNA helicase that unwinds DNA in a 5' to 3' direction. It contains conserved helicase domains (DExH and HELICc) and an iron-sulfur cluster binding domain. The protein interacts with cohesion factors (e.g., SMC1A, SMC3) and is essential for proper chromosome segregation and genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX11 Knockout HEK293 Cell Line | EDJ-KQ4436 | Human | 1663 | Details Get a Quote |
| DDX11 Knockout HCT 116 Cell Line | EDJ-KQ26983 | Human | 1663 | Details Get a Quote |
| DDX11 Knockout HeLa Cell Line | EDJ-KQ26984 | Human | 1663 | Details Get a Quote |
| DDX11 Knockout A-549 Cell Line | EDJ-KQ61546 | Human | 1663 | Details Get a Quote |
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