DYNC1LI1: Dynein Cytoplasmic 1 Light Intermediate Chain 1
A component of the cytoplasmic dynein complex involved in intracellular transport and cell division.
Gene Information Card
| Symbol | DYNC1LI1 |
|---|---|
| Full Name | Dynein cytoplasmic 1 light intermediate chain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 51143 ncbi.nlm.nih.gov/gene/51143 |
| Ensembl ID | ENSG00000144668 |
| UniProt ID | Q9Y6G9 |
| OMIM ID | 615452 |
| HGNC ID | 24562 |
| Aliases | LIC1, DLC1, p38, DYNC1LI1 |
Description
DYNC1LI1 encodes a light intermediate chain (LIC1) of cytoplasmic dynein 1, a multi-subunit motor complex that moves along microtubules toward the minus end. This subunit is critical for cargo binding, dynein complex assembly, and regulation of motor activity. DYNC1LI1 is involved in retrograde transport of vesicles, organelles, and macromolecules, as well as mitotic spindle positioning and ciliary trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) | Loss-of-function mutations in DYNC1LI1 impair dynein-mediated axonal transport, leading to motor neuron degeneration and muscle weakness. | OMIM #615452; ClinVar |
| Ciliary dyskinesia | Defects in DYNC1LI1 disrupt ciliary dynein function, causing impaired mucociliary clearance and respiratory symptoms. | PubMed; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Heart | 7.4 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cells |
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
| A549 | 9.4 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179G>A (p.Arg60His) | Missense | <0.01% | Likely pathogenic; associated with SMALED2A |
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss-of-function; truncating mutation |
| c.1280A>G (p.Tyr427Cys) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent LIC1 protein, impairing dynein complex assembly and retrograde transport.
Gain of Function (GOF)
No evidence of gain-of-function mutations in DYNC1LI1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg60His) may disrupt dynein complex integrity, exerting a dominant-negative effect on motor function.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule motor activity (GO:0003777) | • Cytoplasmic dynein complex (GO:0005868) |
| • Intracellular transport (GO:0046907) | • Cell division (GO:0051301) |
| • Cilium assembly (GO:0060271) |
Pathways
• Cytoplasmic dynein 1 complex (Reactome: R-HSA-983231)
• Cargo trafficking to the Golgi (Reactome: R-HSA-6811434)
• Mitotic spindle orientation (Reactome: R-HSA-8854518)
Protein Summary
DYNC1LI1 encodes the light intermediate chain 1 (LIC1) of cytoplasmic dynein 1, a 38 kDa protein that binds directly to the dynein heavy chain and mediates interactions with cargo adaptors. LIC1 is essential for dynein complex stability, processive motility, and recruitment of specific cargos such as pericentrin and Rab6 vesicles. The protein is ubiquitously expressed with highest levels in testis and brain. Mutations in DYNC1LI1 cause autosomal dominant spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) due to impaired axonal transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC1LI1 Knockout HEK293 Cell Line | EDJ-KQ10943 | Human | 51143 | Details Get a Quote |
| DYNC1LI1 Knockout A-549 Cell Line | EDJ-KQ37428 | Human | 51143 | Details Get a Quote |
| DYNC1LI1 Knockout HCT 116 Cell Line | EDJ-KQ38737 | Human | 51143 | Details Get a Quote |
| DYNC1LI1 Knockout HeLa Cell Line | EDJ-KQ38738 | Human | 51143 | Details Get a Quote |
