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 enable GTPase activity and microtubule binding activity. Predicted to be involved in receptor internalization and synaptic vesicle endocytosis. Predicted to act upstream of or within endocytosis. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm; membrane; and microtubule. Human ortholog(s) of this gene implicated in developmental and 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