DYNC1I1: Cytoplasmic Dynein 1 Intermediate Chain 1
Essential component of the dynein motor complex involved in intracellular transport and ciliary function.
Gene Information Card
| Symbol | DYNC1I1 |
|---|---|
| Full Name | dynein cytoplasmic 1 intermediate chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 1780 ncbi.nlm.nih.gov/gene/1780 |
| Ensembl ID | ENSG00000158560 |
| UniProt ID | Q9Y6G9 |
| OMIM ID | 603772 |
| HGNC ID | 2962 |
| Aliases | DIC1, DIC-1, DNCI1, IC1, p22 |
Description
DYNC1I1 encodes an intermediate chain of cytoplasmic dynein 1, a multisubunit motor protein complex that transports cargo along microtubules toward the minus end. This subunit is critical for dynein assembly, cargo binding, and regulation of motor activity. DYNC1I1 is involved in retrograde axonal transport, mitotic spindle positioning, and ciliary/flagellar motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with lower extremity predominance (SMALED) | Mutations in DYNC1I1 disrupt dynein-mediated retrograde transport in motor neurons, leading to axonal degeneration and muscle weakness. | PMID: 28166811, ClinVar |
| Charcot-Marie-Tooth disease type 2O (CMT2O) | Dominant mutations impair dynein function in peripheral neurons, causing axonal neuropathy. | PMID: 28166811, ClinVar |
| Intellectual disability | Rare variants may affect dynein-dependent neuronal migration and synaptic function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 24.5 | High |
| Lung | 15.3 | Medium |
| Heart | 12.1 | Medium |
| Liver | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.4 | Neuronal model |
| HeLa (cervical carcinoma) | 22.1 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 15.6 | Liver-derived |
| A549 (lung carcinoma) | 18.3 | Lung epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179G>A (p.Arg60His) | Missense | <0.01% | Dominant negative; associated with SMALED |
| c.601C>T (p.Arg201Trp) | Missense | <0.01% | Dominant negative; associated with CMT2O |
| c.2185C>T (p.Arg729*) | Nonsense | <0.01% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg729*) lead to truncated protein and haploinsufficiency, though rare.
Gain of Function (GOF)
Not described for DYNC1I1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg60His, p.Arg201Trp) disrupt dynein complex assembly and motor activity, causing dominant disease.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG hsa04530: Tight junction
• KEGG hsa04144: Endocytosis
• Reactome R-HSA-983231: Factors involved in megakaryocyte development and platelet production
• Reactome R-HSA-5620912: Anchoring of the basal body to the plasma membrane
Protein Summary
DYNC1I1 encodes the intermediate chain 1 of cytoplasmic dynein 1 (IC1). This 645-amino-acid protein contains an N-terminal coiled-coil domain for dimerization and a C-terminal WD40 repeat domain for cargo binding. IC1 links the dynein heavy chain to light chains and adaptors, regulating motor processivity. It is ubiquitously expressed with highest levels in testis and brain. Mutations cause dominant motor neuron diseases by impairing retrograde axonal transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYNC1I1 Knockout HEK293 Cell Line | EDJ-KQ3722 | Human | 1780 | Details Get a Quote |
| DYNC1I1 Knockout HeLa Cell Line | EDJ-KQ53102 | Human | 1780 | Details Get a Quote |
| DYNC1I1 Knockout A-549 Cell Line | EDJ-KQ61576 | Human | 1780 | Details Get a Quote |
| DYNC1I1 Knockout HCT 116 Cell Line | EDJ-KQ70066 | Human | 1780 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
