DRC5
Dynein Regulatory Complex Subunit 5
Gene Information Card
| Symbol | DRC5 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 220136 ncbi.nlm.nih.gov/gene/220136 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q8N8S7 |
| OMIM ID | 615500 |
| HGNC ID | 28287 |
| Aliases | C16orf71, DRC5, dynein regulatory complex subunit 5 |
Description
DRC5 encodes a subunit of the dynein regulatory complex (DRC), a key component of the axonemal structure in cilia and flagella. The DRC is essential for regulating dynein activity and coordinating ciliary beat frequency and waveform. Mutations in DRC5 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and laterality defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DRC5 disrupt the dynein regulatory complex, leading to defective ciliary motility and impaired mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary function during embryonic development can disrupt left-right asymmetry, resulting in situs inversus. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 10.1 | Ciliated retinal pigment epithelial cell line |
| A549 | 6.5 | Lung adenocarcinoma cell line |
| HeLa | 3.2 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248*) | Nonsense | Rare | Premature stop codon leading to loss of function |
| c.1000_1001del (p.Leu334fs) | Frameshift | Rare | Frameshift and truncation, loss of function |
| c.1255G>A (p.Gly419Arg) | Missense | Rare | Likely damaging to protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DRC5 result in truncated or absent protein, leading to loss of dynein regulatory complex function and ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for DRC5.
Dominant Negative (DN)
No dominant-negative mutations reported for DRC5.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • microtubule (GO:0005874) |
| • outer dynein arm assembly (GO:0036157) | • cilium-dependent cell motility (GO:0060285) |
| • cilium movement (GO:0003341) |
Pathways
• Ciliary motility (REACT:R-HSA-5620920)
• Axoneme assembly (REACT:R-HSA-5620916)
Protein Summary
DRC5 is a 584-amino acid protein that localizes to the axoneme of cilia and flagella. It is a structural component of the dynein regulatory complex, which modulates the activity of dynein arms to control ciliary beat frequency and waveform. The protein contains coiled-coil domains and is highly conserved in organisms with motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC5 Knockout HEK293 Cell Line | EDJ-KQ5239 | Human | 202500 | Details Get a Quote |
| DRC5 Knockout HeLa Cell Line | EDJ-KQ59034 | Human | 202500 | Details Get a Quote |
| DRC5 Knockout A-549 Cell Line | EDJ-KQ67513 | Human | 202500 | Details Get a Quote |
| DRC5 Knockout HCT 116 Cell Line | EDJ-KQ75911 | Human | 202500 | Details Get a Quote |
