Entity Details

Primary name DNM1L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00429
EntryNameDNM1L_HUMAN
FullNameDynamin-1-like protein
TaxID9606
Evidenceevidence at protein level
Length736
SequenceStatuscomplete
DateCreated2005-05-10
DateModified2021-06-02

Ontological Relatives

GenesDNM1L

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000266 mitochondrial fission
GO:0001836 release of cytochrome c from mitochondria
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission
GO:0003924 GTPase activity
GO:0005096 GTPase activator activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005777 peroxisome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005903 brush border
GO:0005905 clathrin-coated pit
GO:0006816 calcium ion transport
GO:0007005 mitochondrion organization
GO:0008017 microtubule binding
GO:0008289 lipid binding
GO:0010468 regulation of gene expression
GO:0010637 negative regulation of mitochondrial fusion
GO:0010821 regulation of mitochondrion organization
GO:0016020 membrane
GO:0016559 peroxisome fission
GO:0030276 clathrin binding
GO:0030672 synaptic vesicle membrane
GO:0030742 GTP-dependent protein binding
GO:0031267 small GTPase binding
GO:0031625 ubiquitin protein ligase binding
GO:0031966 mitochondrial membrane
GO:0032991 protein-containing complex
GO:0036466 synaptic vesicle recycling via endosome
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043065 positive regulation of apoptotic process
GO:0043231 intracellular membrane-bounded organelle
GO:0043653 mitochondrial fragmentation involved in apoptotic process
GO:0044877 protein-containing complex binding
GO:0048312 intracellular distribution of mitochondria
GO:0048471 perinuclear region of cytoplasm
GO:0048488 synaptic vesicle endocytosis
GO:0048511 rhythmic process
GO:0050714 positive regulation of protein secretion
GO:0051259 protein complex oligomerization
GO:0051433 BH2 domain binding
GO:0060047 heart contraction
GO:0061003 positive regulation of dendritic spine morphogenesis
GO:0061025 membrane fusion
GO:0065003 protein-containing complex assembly
GO:0070266 necroptotic process
GO:0070584 mitochondrion morphogenesis
GO:0070585 protein localization to mitochondrion
GO:0090023 positive regulation of neutrophil chemotaxis
GO:0090141 positive regulation of mitochondrial fission
GO:0090149 mitochondrial membrane fission
GO:0090200 positive regulation of release of cytochrome c from mitochondria
GO:0090650 cellular response to oxygen-glucose deprivation
GO:0097194 execution phase of apoptosis
GO:0098835 presynaptic endocytic zone membrane
GO:1900063 regulation of peroxisome organization
GO:1900244 positive regulation of synaptic vesicle endocytosis
GO:1903146 regulation of autophagy of mitochondrion
GO:1903578 regulation of ATP metabolic process
GO:1904579 cellular response to thapsigargin
GO:1904666 regulation of ubiquitin protein ligase activity
GO:1905395 response to flavonoid
GO:1990910 response to hypobaric hypoxia
GO:2000302 positive regulation of synaptic vesicle exocytosis
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Subcellular Location

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Subcellular Location
Cytoplasm
Cytoplasmic vesicle
Endomembrane system
Golgi apparatus
Membrane
Mitochondrion outer membrane
Peroxisome

Domains

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DomainNameCategoryType
IPR000375 Dynamin stalk domainDomainDomain
IPR001401 Dynamin, GTPase domainDomainDomain
IPR003130 Dynamin GTPase effectorDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR019762 Dynamin, GTPase region, conserved siteSiteConserved site
IPR020850 GTPase effector domainDomainDomain
IPR022812 DynaminFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030381 Dynamin-type guanine nucleotide-binding (G) domainDomainDomain
IPR030556 Dynamin-1-like proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
614388 OMIMEncephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1)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. The disease is caused by variants affecting the gene represented in this entry.
610708 OMIMOptic atrophy 5 (OPA5)A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

39 interactions

InteractorPartnerSourcesPublicationsLink
DNM1L_HUMANESR1_HUMANI2D21217774 details
DNM1L_HUMANDNM1L_HUMANBioGRID, DIP, IntAct, MINT, UniProt20850011 21701560 23530241 23584531 29899447 30914652 details
DNM1L_HUMANMID51_HUMANBioGRID, MINT, UniProt21701560 29464060 30629163 details
DNM1L_HUMANRIR2_HUMANBioGRID, DIP18330356 details
DNM1L_HUMANFIS1_HUMANBioGRID, HPRD, UniProt12861026 29464060 32877691 details
DNM1L_HUMANFZR1_HUMANBioGRID21325626 details
DNM1L_HUMANMAGA3_HUMANBioGRID, DIP18330356 details
DNM1L_HUMANSH3G1_HUMANBioGRID, DIP18330356 details
DNM1L_HUMANZNHI1_HUMANIntAct32814053 details
DNM1L_HUMANMFF_HUMANBioGRID, MINT, UniProt23530241 26358295 29464060 32877691 details
DNM1L_HUMANSCRIB_HUMANMINT24550280 details
DNM1L_HUMANGSK3B_HUMANBioGRID, HPRD9731200 details
DNM1L_HUMANZBT24_HUMANBioGRID19074440 details
DNM1L_HUMANTGM2_HUMANIntAct32814053 details
DNM1L_HUMANLRRK2_HUMANBioGRID, IntAct22228096 22639965 23813973 24282027 29541021 details
DNM1L_HUMANMID49_HUMANBioGRID, DIP, MINT, UniProt21508961 23530241 29464060 29899447 details
DNM1L_HUMANMPC2_HUMANIntAct32814053 details
DNM1L_HUMANMIDUO_HUMANBioGRID21701560 30629163 details
DNM1L_HUMANSAM50_HUMANBioGRID, MINT27059175 32877691 details
DNM1L_HUMANSIR3_HUMANHPRD, IntAct16169070 details
DNM1L_HUMANMAGA1_HUMANBioGRID, DIP18330356 details
DNM1L_HUMANMUL1_HUMANBioGRID19407830 details
DNM1L_HUMANSENP3_HUMANBioGRID23524851 details
DNM1L_HUMANUBE2H_HUMANIntAct19549727 details
DNM1L_HUMANSCG3_HUMANBioGRID, DIP18330356 details
DNM1L_HUMANSUMO2_HUMANBioGRID, IntAct23524851 29128334 32786267 details
DNM1L_HUMANVIME_HUMANHPRD15383276 details
DNM1L_HUMANMAGB6_HUMANIntAct32814053 details
DNM1L_HUMANPRKN_HUMANBioGRID21292769 30629163 details
DNM1L_HUMANATD3A_HUMANUniProt30914652 details
DNM1L_HUMANPINK1_HUMANBioGRID25591737 details
DNM1L_HUMANMARH5_HUMANBioGRID16874301 16936636 32877691 details
DNM1L_HUMANM3K10_HUMANHPRD9742220 details
DNM1L_HUMANB2CL1_HUMANDIP18250306 23792689 details
DNM1L_HUMANERCC8_HUMANBioGRID29262528 details
DNM1L_HUMANRAB32_HUMANBioGRID31519766 details
DNM1L_HUMANGARS_HUMANIntAct29128334 details
DNM1L_HUMANPGAM5_HUMANIntAct22265414 details
DNM1L_HUMANGBRR1_HUMANBioGRID16999686 details