DNM1 Gene - Dynamin 1
Key regulator of synaptic vesicle endocytosis and neuronal function
Gene Information Card
| Symbol | DNM1 |
|---|---|
| Full Name | Dynamin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 1759 ncbi.nlm.nih.gov/gene/1759 |
| Ensembl ID | ENSG00000106976 |
| UniProt ID | Q05193 |
| OMIM ID | 602377 |
| HGNC ID | 2972 |
| Aliases | DNM, dynamin, D100, FLJ41473 |
Description
The DNM1 gene encodes dynamin 1, a large GTPase that plays a critical role in clathrin-mediated endocytosis, particularly at the presynaptic terminal. Dynamin 1 is essential for the fission of synaptic vesicles from the plasma membrane, enabling rapid recycling of vesicles after neurotransmitter release. Mutations in DNM1 are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 31A (DEE31A) | Loss-of-function mutations impair synaptic vesicle endocytosis, leading to synaptic dysfunction and seizures | ClinVar, OMIM |
| Developmental and epileptic encephalopathy 31B (DEE31B) | Dominant-negative mutations disrupt dynamin oligomerization and GTPase activity | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare missense variants may alter synaptic plasticity | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.5 | High |
| Cerebral cortex | 85.2 | High |
| Cerebellum | 72.1 | High |
| Testis | 12.3 | Low |
| Heart | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | Neuronal model |
| U-87 MG (glioblastoma) | 38.7 | Glial model |
| HEK 293 (embryonic kidney) | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.709C>T (p.Arg237Trp) | Missense | Rare | Dominant-negative; reduces GTPase activity |
| c.1186G>A (p.Gly396Arg) | Missense | Rare | Loss of function; impaired endocytosis |
| c.2053C>T (p.Arg685*) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency or truncated protein; impair synaptic vesicle recycling.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance GTPase activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the GTPase or middle domain (e.g., p.Arg237Trp) disrupt dynamin oligomerization and inhibit wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • Clathrin-dependent endocytosis (GO:0072583) | • Synaptic vesicle endocytosis (GO:0048488) |
| • Plasma membrane fission (GO:0098850) |
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Synaptic vesicle cycle (KEGG hsa04721)
• Endocytosis (Reactome R-HSA-199991)
Protein Summary
Dynamin 1 is a 864-amino acid protein with an N-terminal GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a C-terminal proline-rich domain (PRD). It self-assembles into helical structures around the necks of budding vesicles and, upon GTP hydrolysis, constricts to mediate membrane fission. In neurons, dynamin 1 is the predominant dynamin isoform and is crucial for rapid synaptic vesicle recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNM1 Knockout HEK293 Cell Line | EDJ-KQ1726 | Human | 1759 | Details Get a Quote |
| DNM1 Knockout A-549 Cell Line | EDJ-KQ21564 | Human | 1759 | Details Get a Quote |
| DNM1 Knockout HCT 116 Cell Line | EDJ-KQ21565 | Human | 1759 | Details Get a Quote |
| DNM1 Knockout HeLa Cell Line | EDJ-KQ21566 | Human | 1759 | Details Get a Quote |
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