DYNLT3 (Dynein Light Chain Tctex-Type 3)
A component of the dynein motor complex involved in intracellular transport and ciliary function.
Gene Information Card
| Symbol | DYNLT3 |
|---|---|
| Full Name | Dynein Light Chain Tctex-Type 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 6990 ncbi.nlm.nih.gov/gene/6990 |
| Ensembl ID | ENSG00000165246 |
| UniProt ID | P51808 |
| OMIM ID | 300521 |
| HGNC ID | 11696 |
| Aliases | TCTEX1L, TCTEX-3, DYNLT3A, DYNLT3B |
Description
DYNLT3 encodes a light chain component of the cytoplasmic dynein complex, which is essential for minus-end-directed microtubule-based transport. This protein is involved in various cellular processes including vesicle trafficking, spindle positioning, and ciliary motility. Mutations in DYNLT3 have been linked to primary ciliary dyskinesia and male infertility due to defective sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss of DYNLT3 disrupts dynein arm assembly in cilia, impairing mucociliary clearance. | ClinVar, OMIM |
| Male infertility (spermatogenic failure) | Defective DYNLT3 leads to abnormal flagellar motility and sperm morphology. | OMIM, PubMed |
| Asthenozoospermia | Reduced or absent dynein light chain function causes sperm flagellar immotility. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Lung | 12.1 | Medium |
| Brain | 8.5 | Medium |
| Heart | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line |
| A549 | 10.2 | Lung carcinoma cell line |
| K562 | 7.8 | Leukemia cell line |
| HEK293 | 12.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.347G>A (p.Arg116His) | Missense | <0.01% | Impaired dynein complex assembly |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, causing ciliary dyskinesia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; DYNLT3 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • cytoskeleton (GO:0005856) | • dynein complex (GO:0030286) |
| • cilium (GO:0005929) |
Pathways
• KEGG: hsa04540 – Gap junction
• Reactome: R-HSA-5620912 – Anchoring of the basal body to the plasma membrane
• Reactome: R-HSA-5617833 – Cargo trafficking to the periciliary membrane
Protein Summary
DYNLT3 encodes a 116-amino-acid light chain protein (UniProt P51808) that belongs to the Tctex-type dynein light chain family. It forms part of the dynein motor complex and is critical for cargo binding and motor regulation. The protein is highly expressed in testis and ciliated tissues, consistent with its role in flagellar and ciliary motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNLT3 Knockout HEK293 Cell Line | EDJ-KQ50679 | Human | 6990 | Details Get a Quote |
| DYNLT3 Knockout HeLa Cell Line | EDJ-KQ54633 | Human | 6990 | Details Get a Quote |
| DYNLT3 Knockout A-549 Cell Line | EDJ-KQ63115 | Human | 6990 | Details Get a Quote |
| DYNLT3 Knockout HCT 116 Cell Line | EDJ-KQ71586 | Human | 6990 | Details Get a Quote |
