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DNM1

GeneName

DNM1

Summary

DNM1, also known as dynamin or dynamin-1, is a 97 kDa GTPase that plays a pivotal role in membrane dynamics, particularly in the processes of endocytosis and vesicle trafficking. It is primarily localised to the cytoplasm and various membrane structures, including clathrin-coated pits, presynaptic sites, and endocytic vesicles. DNM1 is essential for the scission of newly formed vesicles from the plasma membrane, facilitating receptor internalisation and synaptic vesicle recycling. It functions through its ability to bind GTP and undergo conformational changes that drive membrane fission, and it can also interact with phosphoinositides and microtubules, enhancing its functional versatility in cellular processes.

Importance

DNM1 is relevant to: - Understanding synaptic transmission and plasticity due to its role in synaptic vesicle recycling and neurotransmitter release - Investigating neurodegenerative diseases where endocytic dysfunction may contribute to pathology - Exploring cancer biology, as alterations in endocytosis can affect receptor signalling and cellular uptake of therapeutic agents - Studying metabolic disorders linked to vesicle trafficking and membrane dynamics

Top Products

For researchers investigating DNM1, we highly recommend the top-selling recombinant antibody, Anti-Dynamin 1 antibody [EP801Y] (ab52611). This antibody has been validated in knockout models, ensuring its reliability in experimental settings. It is suitable for a variety of applications, with a particular emphasis on Western blotting (WB) and immunohistochemistry (IHC). With 16 citations, this antibody is gaining recognition in the research community for its effectiveness in detecting Dynamin 1. Its recombinant nature guarantees batch-to-batch consistency, making it an excellent choice for your studies.

Abcam Product Citation Summary

The use of the Abcam antibody ab52611 for detecting DNM1 in rat brain lysates highlights its relevance in studies focused on synaptic protein expression, which is crucial for understanding neuronal function and communication.

Abcam Product Citation Table

Product Code
Species
Application
Study Context
PMID
ab52611
Rat
WB
Synaptic protein expression
31074746

Domain

The dynamin-type G mediates homodimerization and plays a role in self-assembly.

The C-terminal proline-rich domain (PRD) mediates interaction with SH3-binding partners (By similarity). Is required for DNM1 self-assembly (PubMed:7877694).

The PH domain binds phosphoinositides such as 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate, 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate and 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate, and mediates receptor-mediated endocytosis.

Function

Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosis as well as rapid endocytosis (RE) (PubMed:15703209, PubMed:20428113, PubMed:29668686, PubMed:8101525, PubMed:8910402, PubMed:9362482). Associates to the membrane, through lipid binding, and self-assembles into rings and stacks of interconnected rings through oligomerization to form a helical polymer around the vesicle membrane leading to constriction of invaginated coated pits around their necks (PubMed:30069048, PubMed:7877694, PubMed:9922133). Self-assembly of the helical polymer induces membrane tubules narrowing until the polymer reaches a length sufficient to trigger GTP hydrolysis (PubMed:19084269). Depending on the curvature imposed on the tubules, membrane detachment from the helical polymer upon GTP hydrolysis can cause spontaneous hemifission followed by complete fission (PubMed:19084269). May play a role in regulating early stages of clathrin-mediated endocytosis in non-neuronal cells through its activation by dephosphorylation via the signaling downstream of EGFR (PubMed:29668686). Controls vesicle size at a step before fission, during formation of membrane pits, at hippocampal synapses (By similarity). Controls plastic adaptation of the synaptic vesicle recycling machinery to high levels of activity (By similarity). Mediates rapid endocytosis (RE), a Ca(2+)-dependent and clathrin- and K(+)-independent process in chromaffin cells (By similarity). Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP (By similarity). Through its interaction with DNAJC6, acts during the early steps of clathrin-coated vesicle (CCV) formation (PubMed:12791276).

Involvement in disease

Developmental and epileptic encephalopathy 31A

DEE31A

An autosomal dominant epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.

None

The disease is caused by variants affecting the gene represented in this entry.

Developmental and epileptic encephalopathy 31B

DEE31B

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE31B is an autosomal recessive form with onset in the first months of life.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylation at Ser-774 by GSK3B/GSK3-beta leads to inactivation of receptor-mediated endocytosis in non-neuronal cells (PubMed:29668686). Dephosphorylation at Ser-774, through the EGFR downstream signaling, leads to activation and regulates early stages of clathrin-mediated endocytosis (CME) (PubMed:29668686). Phosphorylated by CDK5 leading to synaptic vesicle endocytosis (SVE) activation (By similarity).

Sequence Similarities

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.

Cellular localization

Alternative names

DNM, DNM1, Dynamin-1, Dynamin, Dynamin I

swissprot:Q05193 omim:602377 entrezGene:1759