Dynamin-1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''DNM1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
Dynamin 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
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all Cell (biology), cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane ...
proteins act as binding partners for the
dynamin
Dynamin is a GTPase protein responsible for endocytosis in the eukaryotic cell. Dynamin is part of the "dynamin superfamily", which includes classical dynamins, dynamin-like proteins, MX1, Mx proteins, OPA1, MFN1, mitofusins, and Guanylate-bindin ...
, which can also self-assemble leading to stimulation of
GTPase
GTPases are a large family of hydrolase enzymes that bind to the nucleotide guanosine triphosphate (GTP) and hydrolyze it to guanosine diphosphate (GDP). The GTP binding and hydrolysis takes place in the highly conserved P-loop "G domain", a ...
activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the
genome
A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
, particularly on
chromosomes Y and 15. Alternatively spliced transcript variants encoding different
isoforms have been described.
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
In a neuron, synaptic vesicles (or neurotransmitter vesicles) store various neurotransmitters that are exocytosis, released at the chemical synapse, synapse. The release is regulated by a voltage-dependent calcium channel. Vesicle (biology), Ves ...
endocytosis in a dominant negative manner.
Interactions
DNM1 has been shown to
interact with:
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AMPH,
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FNBP1,
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Grb2
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NCK1,
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PACSIN1,
SH3GL2
Endophilin-A1 is a protein that in humans is encoded by the ''SH3GL2'' gene.
Interactions
SH3GL2 has been shown to interact with DNM1, Amphiphysin, ADAM9
Disintegrin and metalloproteinase domain-containing protein 9 is an enzyme that in huma ...
.
References
Further reading
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{{Vesicular transport proteins