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
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dnm1b Human Ortholog
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
Associated With dnm1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations