DYNLRB1 Gene - Dynein Light Chain Roadblock-Type 1
Essential component of cytoplasmic dynein complex involved in intracellular transport and ciliary function
Gene Information Card
| Symbol | DYNLRB1 |
|---|---|
| Full Name | Dynein Light Chain Roadblock-Type 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 83658 ncbi.nlm.nih.gov/gene/83658 |
| Ensembl ID | ENSG00000125968 |
| UniProt ID | Q9NP97 |
| OMIM ID | 607167 |
| HGNC ID | 15476 |
| Aliases | DNCL2A, DNLC2A, ROBLD1, bA364G4.1 |
Description
DYNLRB1 encodes a light chain component of the cytoplasmic dynein 1 complex, which is responsible for minus-end-directed microtubule-based transport of cargoes such as vesicles, organelles, and macromolecules. The encoded protein contains a roadblock domain and is essential for dynein complex stability and function. DYNLRB1 is also involved in ciliary assembly and intraflagellar transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defective ciliary motility due to impaired dynein complex assembly | PMID: 31537076 |
| Spermatogenic failure | Disrupted flagellar transport leading to asthenozoospermia | PMID: 31537076 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain | 12.3 | Medium |
| Lung | 10.1 | Medium |
| Heart | 8.7 | Medium |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 14.8 | Embryonic kidney cell line |
| A549 | 12.1 | Lung cancer cell line |
| K562 | 9.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232C>T (p.Arg78Trp) | Missense | <0.01% | Impaired dynein complex assembly |
| c.346G>A (p.Gly116Ser) | Missense | <0.01% | Reduced ciliary beat frequency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in DYNLRB1 disrupt dynein complex stability and reduce ciliary motility.
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)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • dynein complex (GO:0030286) | • dynein intermediate chain binding (GO:0045505) |
| • cilium assembly (GO:0060271) |
Pathways
• Cilium assembly and intraflagellar transport
• Microtubule-based transport (dynein-mediated)
Protein Summary
DYNLRB1 is a 96-amino-acid protein (11 kDa) belonging to the roadblock-type light chain family. It forms a dimer and interacts with the dynein intermediate chain to stabilize the dynein complex. The protein is highly conserved and expressed in ciliated tissues, particularly testis and respiratory epithelium.
Related Services
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|---|---|---|---|---|
| No Data | ||||
