Gene

dnm1a

ID

ZDB-GENE-081104-27

Name

dynamin 1a

Symbol

dnm1a Nomenclature History

Previous Names

si:dkey-246l19.2

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to enable GTPase activity and microtubule binding activity. Acts upstream of or within neuron projection morphogenesis and regulation of skeletal muscle fiber development. Predicted to be active in several cellular components, including microtubule; plasma membrane; and synapse. Is expressed in liver; muscle; nervous system; and somite. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 31A and developmental and epileptic encephalopathy 31B. Orthologous to human DNM1 (dynamin 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Bragato et al., 2023
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dnm1a 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 dnm1a 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:A0A8M9PJL9 InterPro	854
UniProtKB:A0A8M9PX15 InterPro	854
UniProtKB:A0A8M2BG30 InterPro	841
UniProtKB:A0A8M9QDH5 InterPro	849
UniProtKB:E4VNZ2 InterPro	843
UniProtKB:A0A8M3B9A3 InterPro	845
UniProtKB:A0A8M9Q2T8 InterPro	852