DNM1L Antibody – Rabbit Polyclonal

This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

DRP1: Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into ring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane through a GTP hydrolysis- dependent mechanism. Required for normal brain development. Facilitates developmentally-regulated apoptosis during neural tube development. Required for a normal rate of cytochrome c release and caspase activation during apoptosis. Also required for mitochondrial fission during mitosis. May be involved in vesicle transport. Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED domain of another DNM1L molecule. Can self-assemble in multimeric ring-like structures. Interacts with BCL2L1; the interaction stimulates the GTPase activity of DMN1L in synapses and increases the number of axonal mitochondria and the size and number of synaptic vesicle clusters. Interacts with FIS1. Interacts with GSK3B and MARCH5. Interacts (via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L, mainly in ite B domain. Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria. Interacts witn MID49 and MID51. Ubiquitously expressed with highest levels found in skeletal muscles, heart, kidney and brain. Isoform 1 is brain-specific. Isoform 2 and isoform 3 are predominantly expressed in testis and skeletal muscles respectively. Isoform 4 is weakly expressed in brain, heart and kidney. Isoform 5 is dominantly expressed in liver, heart and kidney. Isoform 6 is expressed in neurons. Belongs to the dynamin family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Apoptosis; Motor; Mitochondrial; Microtubule-binding; EC 3.6.5.5; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 12p11.21

Cellular Component: Golgi apparatus; microtubule; protein complex; mitochondrion; intracellular membrane-bound organelle; synaptic vesicle membrane; coated pit; cytosol; mitochondrial outer membrane; membrane; perinuclear region of cytoplasm; cytoplasm; peroxisome; cell junction

Molecular Function: GTPase activity; identical protein binding; protein binding; protein homodimerization activity; GTP binding; ubiquitin protein ligase binding; lipid binding

Biological Process: peroxisome fission; mitochondrial fission; release of cytochrome c from mitochondria; positive regulation of protein secretion; positive regulation of apoptosis; metabolic process; apoptosis; regulation of protein oligomerization; endocytosis; mitochondrial fragmentation during apoptosis; cell structure disassembly during apoptosis; protein homotetramerization

Disease: Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission