Gene
dnm1b
- ID
- ZDB-GENE-100920-3
- Name
- dynamin 1b
- Symbol
- dnm1b Nomenclature History
- Previous Names
-
- si:ch73-310g9.3
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have GTPase activity and microtubule binding activity. Predicted to be involved in several processes, including membrane fusion; mitochondrial fission; and vesicle-mediated transport in synapse. Predicted to localize to several cellular components, including dendritic spine head; postsynaptic density; and postsynaptic endocytic zone membrane. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 31. Orthologous to human DNM1 (dynamin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Griffin et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 31A | Alliance | Developmental and epileptic encephalopathy 31A, autosomal dominant | 616346 |
| developmental and epileptic encephalopathy 31B | Alliance | Developmental and epileptic encephalopathy 31B, autosomal recessive | 620352 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019762 | Dynamin, GTPase region, conserved site |
| Domain | IPR000375 | Dynamin stalk domain |
| Domain | IPR001401 | Dynamin, GTPase domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR003130 | Dynamin GTPase effector |
| Domain | IPR020850 | GTPase effector domain |
| Domain | IPR030381 | Dynamin-type guanine nucleotide-binding (G) domain |
| Domain | IPR045063 | Dynamin, N-terminal |
| Family | IPR022812 | Dynamin |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | Dynamin | Dynamin, GTPase domain | Dynamin GTPase effector | Dynamin, GTPase region, conserved site | Dynamin, N-terminal | Dynamin stalk domain | Dynamin-type guanine nucleotide-binding (G) domain | GTPase effector domain | PH-like domain superfamily | Pleckstrin homology domain | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BCU8
|
846 | |||||||||||
|
UniProtKB:E7FC95
|
858 | |||||||||||
|
UniProtKB:A0A8M2BCV1
|
859 | |||||||||||
|
UniProtKB:A0A8M6Z690
|
845 |
Interactions and Pathways
No data available
Plasmids
No data available