RBCC Red Blood Cell Collection

DNM1L_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: DNM1L , DLP1, DRP1
Protein names and data: DNM1L_HUMAN , Dynamin-1-like protein; 3.6.5.5 , Dnm1p/Vps1p-like protein; DVLP; Dynamin family member proline-rich carboxyl-terminal domain less; Dymple; Dynamin-like protein; Dynamin-like protein 4; Dynamin-like protein IV; HdynIV; Dynamin-related protein 1 Lenght: 736 a.a.
Mass: 81877 Da
fasta formatted sequence
Function: 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. Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Also required for mitochondrial fission during mitosis. Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles. Required for programmed necrosis execution. Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed.
Catalytic activity: GTP + H(2)O = GDP + phosphate.
Disease: ( OMIM: 603850 614388 ) Note=May be associated with Alzheimer disease through beta-amyloid-induced increased S-nitrosylation of DNM1L, which triggers, directly or indirectly, excessive mitochondrial fission, synaptic loss and neuronal damage. Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388]: A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytosol. Golgi apparatus. Endomembrane system; Peripheral membrane protein. Mitochondrion outer membrane; Peripheral membrane protein. Peroxisome. Membrane, clathrin-coated pit (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Note=Mainly cytosolic. Translocated to the mitochondrial membrane through O-GlcNAcylation and interaction with FIS1. Colocalized with MARCH5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. Associated with peroxisomal membranes, partly recruited there by PEX11B. May also be associated with endoplasmic reticulum tubules and cytoplasmic vesicles and found to be perinuclear. In some cell types, localizes to the Golgi complex.
Tissue specificity: 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.

Genetic variants

71 - 71 S -> T (in dbSNP:rs1064610). VAR_022446 1064610
395 - 395 A -> D (in EMPF; the mutation acts in a dominant-negative manner; defects observed in both mitochondrial and peroxisomal fission). VAR_063704
426 - 426 E -> D (in dbSNP:rs2389105). VAR_030489 2389105

Database cross-references

UniProt: O00429
Ensembl: ENST00000266481
Ensembl: ENST00000452533
Ensembl: ENST00000547312
Ensembl: ENST00000549701
Ensembl: ENST00000553257
MIM: 603850
MIM: 614388
neXtProt: NX_O00429
Antibodypedia: O00429 (may not find the protein thus also not any antibody)
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