DRC1
Dynein Regulatory Complex Subunit 1
Gene Information Card
| Symbol | DRC1 |
|---|---|
| Full Name | Dynein Regulatory Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 92749 ncbi.nlm.nih.gov/gene/92749 |
| Ensembl ID | ENSG00000162910 |
| UniProt ID | Q96MC2 |
| OMIM ID | 615288 |
| HGNC ID | HGNC:24276 |
| Aliases | C2orf39, DRC1a, bA325O17.4, FLJ10968 |
Description
The DRC1 gene encodes a protein that is a component of the dynein regulatory complex (DRC), which is essential for the regulation of ciliary and flagellar motility. The DRC is located on the outer doublet microtubules of the axoneme and controls the activity of dynein arms, thereby modulating the beat frequency and waveform of cilia. Mutations in DRC1 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 21 (CILD21) | Loss-of-function mutations in DRC1 disrupt the dynein regulatory complex, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia (PCD) | Defects in DRC1 lead to abnormal axonemal structure and function, causing reduced or absent ciliary beat frequency. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Lung | 8.5 | Low |
| Trachea | 7.9 | Low |
| Fallopian Tube | 6.8 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 5.2 | Low expression |
| BEAS-2B (Bronchial epithelial) | 4.8 | Low expression |
| HepG2 (Hepatocellular carcinoma) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.136C>T (p.Arg46*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Likely damaging; disrupts DRC assembly |
| c.502_503del (p.Leu168Glufs*13) | Frameshift | Rare | Loss of function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations in DRC1 lead to truncated or absent protein, impairing dynein regulatory complex assembly and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DRC1.
Dominant Negative (DN)
No dominant-negative mutations have been described for DRC1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003351 (GO:0003351) | • GO:0005858 (GO:0005858) |
| • GO:0005874 (GO:0005874) | • GO:0035082 (GO:0035082) |
| • GO:0060285 (GO:0060285) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axoneme assembly (Reactome: R-HSA-5620916)
Protein Summary
The DRC1 protein is a subunit of the dynein regulatory complex (DRC), which is located on the outer doublet microtubules of ciliary and flagellar axonemes. It plays a critical role in regulating the activity of inner and outer dynein arms, thereby controlling ciliary beat frequency and waveform. The protein is highly conserved across species and is essential for proper mucociliary clearance, sperm motility, and left-right axis determination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRC10 Knockout HEK293 Cell Line | EDJ-KQ7534 | Human | 115811 | Details Get a Quote |
| DRC1 Knockout HEK293 Cell Line | EDJ-KQ11067 | Human | 92749 | Details Get a Quote |
| DRC12 Knockout HEK293 Cell Line | EDJ-KQ12783 | Human | 283152 | Details Get a Quote |
| 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 |
| DRC10 Knockout A-549 Cell Line | EDJ-KQ32819 | Human | 115811 | Details Get a Quote |
| DRC10 Knockout HCT 116 Cell Line | EDJ-KQ32820 | Human | 115811 | Details Get a Quote |
| DRC10 Knockout HeLa Cell Line | EDJ-KQ32821 | Human | 115811 | Details Get a Quote |
| DRC11 Knockout HeLa Cell Line | EDJ-KQ43698 | Human | 79781 | Details Get a Quote |
| DRC1 Knockout HeLa Cell Line | EDJ-KQ57847 | Human | 92749 | Details Get a Quote |
| DRC12 Knockout HeLa Cell Line | EDJ-KQ59379 | Human | 283152 | 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 |
| DRC1 Knockout A-549 Cell Line | EDJ-KQ66346 | Human | 92749 | Details Get a Quote |
| DRC12 Knockout A-549 Cell Line | EDJ-KQ67842 | Human | 283152 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
