DYNLT1
Dynein Light Chain Tctex-Type 1
Gene Information Card
| Symbol | DYNLT1 |
|---|---|
| Full Name | Dynein Light Chain Tctex-Type 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 6993 ncbi.nlm.nih.gov/gene/6993 |
| Ensembl ID | ENSG00000112118 |
| UniProt ID | P63172 |
| OMIM ID | 601554 |
| HGNC ID | 11697 |
| Aliases | TCTEX1, TCTE1L, DYNLT1 |
Description
DYNLT1 (dynein light chain Tctex-type 1) encodes a light chain subunit of the cytoplasmic dynein 1 complex. This protein is involved in retrograde transport along microtubules, ciliary assembly, and flagellar motility. It is highly expressed in testis and ciliated tissues. Mutations in DYNLT1 cause primary ciliary dyskinesia (PCD) and male infertility due to defective sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss of DYNLT1 disrupts dynein arm assembly in cilia, impairing mucociliary clearance | PMID: 31564436 |
| Spermatogenic Failure 48 | Defective flagellar motility due to disrupted dynein light chain function | PMID: 31564436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Trachea | 12.3 | Medium |
| Lung | 8.1 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Ciliated epithelial model |
| hTERT-RPE1 | 12.7 | Ciliated retinal pigment epithelial cells |
| NT2/D1 | 9.8 | Testicular embryonal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.238G>A (p.Gly80Arg) | Missense | Rare | Impaired dynein complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DYNLT1 protein, causing ciliary dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • dynein light chain binding |
| • cytoplasmic dynein complex | • cilium assembly |
| • flagellated sperm motility | • retrograde vesicle-mediated transport |
Pathways
• Cilium Assembly
• Intraflagellar Transport
• Spermatogenesis
Protein Summary
DYNLT1 is a 113-amino-acid light chain protein (12.5 kDa) that binds to the dynein intermediate chain. It is essential for the stability and function of the dynein motor complex in cilia and flagella. The protein contains a Tctex-type domain and is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNLT1 Knockout HEK293 Cell Line | EDJ-KQ5911 | Human | 6993 | Details Get a Quote |
| DYNLT1 Knockout A-549 Cell Line | EDJ-KQ29433 | Human | 6993 | Details Get a Quote |
| DYNLT1 Knockout HCT 116 Cell Line | EDJ-KQ29434 | Human | 6993 | Details Get a Quote |
| DYNLT1 Knockout HeLa Cell Line | EDJ-KQ29435 | Human | 6993 | Details Get a Quote |
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