DNM1

DNM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DYN, 2DYN, 2X2E, 2X2F, 3SNH, 3ZYC, 3ZYS, 4UUD, 4UUK, 5D3Q
Identifiers
Aliases	DNM1, Dynamin-1, DNM, EIEE31, dynamin 1, DEE31
External IDs	OMIM: 602377; MGI: 107384; HomoloGene: 123905; GeneCards: DNM1; OMA:DNM1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.11 Start 128,191,655 bp[1] End 128,255,248 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 B|2 22.09 cM Start 32,198,483 bp[2] End 32,243,350 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 middle temporal gyrus superior frontal gyrus frontal pole parietal lobe Brodmann area 46 postcentral gyrus orbitofrontal cortex Region I of hippocampus proper cerebellar vermis Top expressed in entorhinal cortex superior frontal gyrus cingulate gyrus cerebellar cortex pontine nuclei prefrontal cortex subiculum superior colliculus primary motor cortex hippocampus proper More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein dimerization activity GTP binding protein binding hydrolase activity protein kinase binding microtubule binding RNA binding GTPase activity protein C-terminus binding D2 dopamine receptor binding protein-containing complex binding nitric-oxide synthase binding identical protein binding SH3 domain binding Cellular component cytoplasm photoreceptor inner segment myelin sheath synapse membrane coat microtubule cytoskeleton extracellular exosome mitochondrial membranes Golgi apparatus plasma membrane synaptic vesicle varicosity nucleus nucleoplasm postsynaptic density membrane axon cytoplasmic vesicle protein-containing complex dendritic spine dendritic spine head postsynaptic membrane photoreceptor ribbon synapse presynaptic endocytic zone membrane postsynaptic endocytic zone membrane glutamatergic synapse Biological process endocytosis ephrin receptor signaling pathway adult locomotory behavior synaptic transmission, GABAergic toxin transport sensory perception of sound protein tetramerization endosome organization clathrin-dependent endocytosis mitochondrial fission dynamin family protein polymerization involved in mitochondrial fission membrane fusion synaptic vesicle budding from presynaptic endocytic zone membrane G protein-coupled receptor internalization receptor-mediated endocytosis receptor internalization positive regulation of synaptic vesicle recycling synaptic vesicle endocytosis regulation of synapse structure or activity modulation of chemical synaptic transmission postsynaptic neurotransmitter receptor internalization regulation of synaptic vesicle endocytosis positive regulation of synaptic vesicle endocytosis response to amyloid-beta Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1759 13429 Ensembl ENSG00000106976 ENSMUSG00000026825 UniProt Q05193 P39053 RefSeq (mRNA) NM_001005336 NM_001288737 NM_001288738 NM_001288739 NM_004408 NM_001374269 NM_001301737 NM_010065 NM_001368679 RefSeq (protein) NP_001005336 NP_001275666 NP_001275667 NP_001275668 NP_004399 NP_001361198 NP_001288666 NP_034195 NP_001355608 Location (UCSC) Chr 9: 128.19 – 128.26 Mb Chr 2: 32.2 – 32.24 Mb PubMed search [3] [4]
Wikidata
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Dynamin-1 is a protein that in humans is encoded by the DNM1 gene.^[5][6]

Function

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described.^[7]

Role in disease

De novo mutations in DNM1 have been associated with a severe form of childhood epilepsy called developmental and epileptic encephalopathy. Most pathogenic variants are missense variants, and have been shown to impair synaptic vesicle endocytosis in a dominant negative manner.^[8]

Interactions

DNM1 has been shown to interact with:

References

Further reading

This page was last edited on 28 March 2024, at 11:42