DRC11
Dynein Regulatory Complex Subunit 11
Gene Information Card
| Symbol | DRC11 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 286205 ncbi.nlm.nih.gov/gene/286205 |
| Ensembl ID | ENSG00000180438 |
| UniProt ID | Q8N7X0 |
| OMIM ID | 620220 |
| HGNC ID | 28433 |
| Aliases | C11orf70, FLJ22184 |
Description
DRC11 (Dynein Regulatory Complex Subunit 11) encodes a protein component of the dynein regulatory complex (DRC), which is located in the axoneme of cilia and flagella. The DRC regulates the activity of dynein arms to control ciliary beat frequency and waveform. DRC11 is essential for proper ciliary motility and mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss-of-function mutations in DRC11 disrupt dynein regulatory complex assembly, impairing ciliary motility and leading to respiratory infections, situs inversus, and infertility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HAP1 | 10.2 | Knockout studies show ciliary defects |
| HeLa | 2.1 | Low expression |
| hTERT-RPE1 | 1.8 | Ciliated cell model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with primary ciliary dyskinesia |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; disrupts DRC assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent DRC11 protein impair dynein regulatory complex function, causing ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • outer dynein arm assembly (GO:0036157) | • cilium-dependent cell motility (GO:0060285) |
| • epithelial cilium movement (GO:0003351) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Dynein regulatory complex assembly
Protein Summary
DRC11 is a 25.5 kDa protein with 224 amino acids. It localizes to the axoneme and is a structural component of the dynein regulatory complex. The protein contains coiled-coil domains that mediate interactions with other DRC subunits and microtubules. DRC11 is critical for regulating dynein arm activity and ciliary beat pattern.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC11 Knockout HEK293 Cell Line | EDJ-KQ13852 | Human | 79781 | Details Get a Quote |
| DRC11L Knockout HEK293 Cell Line | EDJ-KQ13853 | Human | 392843 | Details Get a Quote |
| DRC11 Knockout HeLa Cell Line | EDJ-KQ43698 | Human | 79781 | Details Get a Quote |
| DRC11L Knockout HeLa Cell Line | EDJ-KQ60238 | Human | 392843 | Details Get a Quote |
| DRC11 Knockout A-549 Cell Line | EDJ-KQ65738 | Human | 79781 | Details Get a Quote |
| DRC11L Knockout A-549 Cell Line | EDJ-KQ68699 | Human | 392843 | Details Get a Quote |
| DRC11 Knockout HCT 116 Cell Line | EDJ-KQ74155 | Human | 79781 | Details Get a Quote |
| DRC11L Knockout HCT 116 Cell Line | EDJ-KQ77066 | Human | 392843 | Details Get a Quote |
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