UniProtKB - O00429 (DNM1L_HUMAN)
Dynamin-1-like protein
DNM1L
Functioni
Catalytic activityi
- EC:3.6.5.52 Publications
Activity regulationi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 32 – 40 | GTP1 Publication | 9 | |
Nucleotide bindingi | 215 – 221 | GTP1 Publication | 7 | |
Nucleotide bindingi | 246 – 249 | GTP1 Publication | 4 |
GO - Molecular functioni
- BH2 domain binding Source: Ensembl
- clathrin binding Source: Ensembl
- GTPase activator activity Source: ParkinsonsUK-UCL
- GTPase activity Source: UniProtKB
- GTP binding Source: UniProtKB-KW
- GTP-dependent protein binding Source: ParkinsonsUK-UCL
- identical protein binding Source: IntAct
- lipid binding Source: UniProtKB-KW
- microtubule binding Source: GO_Central
- protein-containing complex binding Source: Ensembl
- protein homodimerization activity Source: UniProtKB
- Rab GTPase binding Source: ParkinsonsUK-UCL
- ubiquitin protein ligase binding Source: UniProtKB
GO - Biological processi
- apoptotic mitochondrial changes Source: GO_Central
- calcium ion transport Source: Ensembl
- cellular response to oxygen-glucose deprivation Source: Ensembl
- cellular response to thapsigargin Source: Ensembl
- dynamin family protein polymerization involved in mitochondrial fission Source: UniProtKB
- endocytosis Source: UniProtKB-KW
- execution phase of apoptosis Source: Reactome
- heart contraction Source: Ensembl
- intracellular distribution of mitochondria Source: ParkinsonsUK-UCL
- membrane fusion Source: UniProtKB
- mitochondrial fission Source: UniProtKB
- mitochondrial fragmentation involved in apoptotic process Source: UniProtKB
- mitochondrial membrane fission Source: UniProtKB
- mitochondrion morphogenesis Source: MGI
- mitochondrion organization Source: ParkinsonsUK-UCL
- necroptotic process Source: UniProtKB
- negative regulation of mitochondrial fusion Source: Ensembl
- organelle fission Source: GO_Central
- peroxisome fission Source: UniProtKB
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of dendritic spine morphogenesis Source: Ensembl
- positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
- positive regulation of mitochondrial fission Source: ParkinsonsUK-UCL
- positive regulation of neutrophil chemotaxis Source: CACAO
- positive regulation of protein secretion Source: UniProtKB
- positive regulation of release of cytochrome c from mitochondria Source: UniProtKB
- positive regulation of synaptic vesicle endocytosis Source: Ensembl
- positive regulation of synaptic vesicle exocytosis Source: Ensembl
- protein complex oligomerization Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- protein localization to mitochondrion Source: Ensembl
- regulation of ATP metabolic process Source: Ensembl
- regulation of autophagy of mitochondrion Source: ParkinsonsUK-UCL
- regulation of gene expression Source: Ensembl
- regulation of mitochondrion organization Source: UniProtKB
- regulation of peroxisome organization Source: UniProtKB
- regulation of ubiquitin protein ligase activity Source: Ensembl
- release of cytochrome c from mitochondria Source: UniProtKB
- response to flavonoid Source: Ensembl
- response to hypobaric hypoxia Source: Ensembl
- rhythmic process Source: UniProtKB-KW
- synaptic vesicle recycling via endosome Source: Ensembl
Keywordsi
Molecular function | Hydrolase |
Biological process | Biological rhythms, Endocytosis, Necrosis |
Ligand | GTP-binding, Lipid-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O00429 |
Reactomei | R-HSA-75153, Apoptotic execution phase |
SIGNORi | O00429 |
Protein family/group databases
TCDBi | 1.N.6.1.2, the mitochondrial inner/outer membrane fusion (mmf) family |
Names & Taxonomyi
Protein namesi | Recommended name: Dynamin-1-like protein (EC:3.6.5.5)Alternative name(s): Dnm1p/Vps1p-like protein Short name: DVLP Dynamin family member proline-rich carboxyl-terminal domain less Short name: Dymple Dynamin-like protein Dynamin-like protein 4 Dynamin-like protein IV Short name: HdynIV Dynamin-related protein 1 |
Gene namesi | Name:DNM1L Synonyms:DLP1, DRP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000087470.17 |
HGNCi | HGNC:2973, DNM1L |
MIMi | 603850, gene |
neXtProti | NX_O00429 |
Subcellular locationi
Golgi apparatus
Mitochondrion
- Mitochondrion outer membrane 3 Publications; Peripheral membrane protein
Cytosol
Peroxisome
Other locations
- Endomembrane system ; Peripheral membrane protein
- clathrin-coated pit By similarity
- synaptic vesicle membrane By similarity
Note: Mainly cytosolic. Translocated to the mitochondrial membrane through O-GlcNAcylation and interaction with FIS1. Colocalized with MARCHF5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. Recruited to the mitochondrial outer membrane by interaction with MIEF1. Mitochondrial recruitment is inhbited by C11orf65/MFI (By similarity). 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 (By similarity). Binds to phospholipid membranes (By similarity).By similarity
Cytoskeleton
- microtubule Source: UniProtKB
Cytosol
- cytosol Source: UniProtKB
Endoplasmic reticulum
- endoplasmic reticulum Source: ParkinsonsUK-UCL
- endoplasmic reticulum membrane Source: ParkinsonsUK-UCL
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- Golgi membrane Source: Ensembl
Mitochondrion
- mitochondrial membrane Source: GO_Central
- mitochondrial outer membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Peroxisome
- peroxisome Source: UniProtKB
Plasma Membrane
- clathrin-coated pit Source: UniProtKB-SubCell
- presynaptic endocytic zone membrane Source: Ensembl
Other locations
- brush border Source: Ensembl
- cytoplasm Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
- synaptic vesicle membrane Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell junction, Coated pit, Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion outer membrane, Peroxisome, SynapsePathology & Biotechi
Involvement in diseasei
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080870 | 36 | S → G in EMPF1; autosomal recessive; impaired mitochondrial membrane fission; hypomorphic mutation retaining partial activity in mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs879255688EnsemblClinVar. | 1 | |
Natural variantiVAR_076316 | 362 | G → D in EMPF1; unknown pathological significance; unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site; presence of concentric cristae and/or increased dense granules in some mitochondria. 2 PublicationsCorresponds to variant dbSNP:rs879255685EnsemblClinVar. | 1 | |
Natural variantiVAR_076317 | 362 | G → S in EMPF1; the mutation acts in a dominant-negative manner; defects observed in mitochondrial fission; significant decrease in mitochondrial respiratory chain complex IV activity. 1 PublicationCorresponds to variant dbSNP:rs886037861EnsemblClinVar. | 1 | |
Natural variantiVAR_063704 | 395 | A → D in EMPF1; the mutation acts in a dominant-negative manner; defects observed in both mitochondrial and peroxisomal fission; reduced oligomerization, decreased mitochondrial recruitment. 2 PublicationsCorresponds to variant dbSNP:rs121908531EnsemblClinVar. | 1 | |
Natural variantiVAR_076318 | 403 | R → C in EMPF1; the mutation acts in a dominant-negative manner; reduced oligomerization; decreased mitochondrial recruitment; defects observed in mitochondrial fission. 1 PublicationCorresponds to variant dbSNP:rs863223953EnsemblClinVar. | 1 | |
Natural variantiVAR_080872 | 406 | L → S in EMPF1; impaired mitochondrial and peroxisomal membrane fission. 1 Publication | 1 |
Optic atrophy 5 (OPA5)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080869 | 2 | E → A in OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs1555229948EnsemblClinVar. | 1 | |
Natural variantiVAR_080871 | 192 | A → E in OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs1555119216EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 34 | Q → A: Abolishes GTP hydrolysis. 1 Publication | 1 | |
Mutagenesisi | 38 | K → A: Loss of GTPase activity. Impairs mitochondrial division and induces changes in peroxisome morphology. No effect on oligomerization. Increase in sumoylation by SUMO3. 6 Publications | 1 | |
Mutagenesisi | 38 | K → E: Overexpression delays protein secretion. 6 Publications | 1 | |
Mutagenesisi | 39 | S → A: Abolishes GTP hydrolysis. 3 Publications | 1 | |
Mutagenesisi | 39 | S → I: Decreased localization to the perinuclear region. 3 Publications | 1 | |
Mutagenesisi | 39 | S → N: Reduces peroxisomal abundance. 3 Publications | 1 | |
Mutagenesisi | 41 | V → F: Temperature-sensitive. Impairs mitochondrial division. 1 Publication | 1 | |
Mutagenesisi | 59 | T → A: Abolishes GTP hydrolysis. Impairs mitochondrial division. Reduces peroxisomal abundance. 3 Publications | 1 | |
Mutagenesisi | 146 | D → A: Abolishes GTP hydrolysis. 1 Publication | 1 | |
Mutagenesisi | 149 | G → A: Abolishes GTP hydrolysis. 1 Publication | 1 | |
Mutagenesisi | 190 | D → A: Unable to homooligomerize. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site. 1 Publication | 1 | |
Mutagenesisi | 216 | K → A: Abolishes GTP hydrolysis. 1 Publication | 1 | |
Mutagenesisi | 218 | D → A: Abolishes GTP hydrolysis. 1 Publication | 1 | |
Mutagenesisi | 221 | D → A: Unable to homooligomerize. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site. 1 Publication | 1 | |
Mutagenesisi | 281 | G → D: Temperature-sensitive. Impairs mitochondrial division. 1 Publication | 1 | |
Mutagenesisi | 300 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 345 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 361 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 367 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 401 – 404 | GPRP → AAAA: Impairs formation of higher order oligomers, but not homodimerization. 1 Publication | 4 | |
Mutagenesisi | 431 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 446 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 470 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 490 | E → A: Does not impair homodimerization and formation of higher order oligomers. 1 Publication | 1 | |
Mutagenesisi | 490 | E → R: Impairs homodimerization and formation of higher order oligomers. 1 Publication | 1 | |
Mutagenesisi | 505 | C → A: No effect on S-nitrosylation. 1 Publication | 1 | |
Mutagenesisi | 532 | K → R: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-535; R-558 and R-568. 1 Publication | 1 | |
Mutagenesisi | 535 | K → R: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-558 and R-568. 1 Publication | 1 | |
Mutagenesisi | 558 | K → R: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-568. 1 Publication | 1 | |
Mutagenesisi | 568 | K → R: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-558. 1 Publication | 1 | |
Mutagenesisi | 594 | K → R: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-597; R-606 and R-608. 1 Publication | 1 | |
Mutagenesisi | 597 | K → R: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-606 and R-608. 1 Publication | 1 | |
Mutagenesisi | 606 | K → R: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-608. 1 Publication | 1 | |
Mutagenesisi | 608 | K → R: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-606. 1 Publication | 1 | |
Mutagenesisi | 616 | S → A: Little effect on mitochondrial morphology. Translocated to mitochondria. 1 Publication | 1 | |
Mutagenesisi | 637 | S → A: Abolishes phosphorylation. Reduces interaction with MIEF1 and MIEF2. Promotes mitochondrial fission and cell vulnerability to apoptotic insults. Mostly mitochondrial. Disrupts, in vitro, binding to FIS1. 4 Publications | 1 | |
Mutagenesisi | 637 | S → D: Impairs intramolecular interactions but not homooligomerization. Does not reduce interaction with MIEF1 and MIEF2. Impairs formation of higher order oligomers but not homodimerization. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site. Slight reduction in GTPase activity. Inhibits mitochondrial fission. Retained in the cytoplasm. 5 Publications | 1 | |
Mutagenesisi | 644 | C → A: Abolishes S-nitrosylation. Reduced dimerization and no enhancement of GTPase activity. 1 Publication | 1 | |
Mutagenesisi | 668 | K → E: Abolishes homodimerization and formation of higher order oligomers. 1 Publication | 1 | |
Mutagenesisi | 679 | K → A: Diminishes intramolecular interaction between GTP-middle domain and GED domain but no effect on homooligomerization. Marked reduction in GTPase activity, in vitro. Decreased mitochondrial division. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 10059 |
MalaCardsi | DNM1L |
MIMi | 610708, phenotype 614388, phenotype |
NIAGADSi | ENSG00000087470 |
OpenTargetsi | ENSG00000087470 |
Orphaneti | 98673, Autosomal dominant optic atrophy, classic form 330050, DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
PharmGKBi | PA27441 |
Miscellaneous databases
Pharosi | O00429, Tbio |
Polymorphism and mutation databases
BioMutai | DNM1L |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000206566 | 1 – 736 | Dynamin-1-like proteinAdd BLAST | 736 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 529 | PhosphoserineCombined sources | 1 | |
Cross-linki | 532 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Cross-linki | 535 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 548 | PhosphoserineCombined sources | 1 | |
Cross-linki | 558 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Cross-linki | 568 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Glycosylationi | 585 | O-linked (GlcNAc) threonineBy similarity | 1 | |
Glycosylationi | 586 | O-linked (GlcNAc) threonineBy similarity | 1 | |
Cross-linki | 594 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 597 | N6-acetyllysine; alternateBy similarity | 1 | |
Cross-linki | 597 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate | ||
Cross-linki | 606 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 607 | PhosphoserineCombined sources | 1 | |
Cross-linki | 608 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 616 | Phosphoserine; by CDK1Combined sources2 Publications | 1 | |
Modified residuei | 637 | Phosphoserine; by CAMK1 and PKA5 Publications | 1 | |
Modified residuei | 644 | S-nitrosocysteine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Glycoprotein, Isopeptide bond, Phosphoprotein, S-nitrosylation, Ubl conjugationProteomic databases
CPTACi | CPTAC-57 |
EPDi | O00429 |
jPOSTi | O00429 |
MassIVEi | O00429 |
MaxQBi | O00429 |
PaxDbi | O00429 |
PeptideAtlasi | O00429 |
PRIDEi | O00429 |
ProteomicsDBi | 34194 4122 47884 [O00429-1] 47885 [O00429-2] 47886 [O00429-3] 47887 [O00429-4] 47888 [O00429-5] 47889 [O00429-6] |
PTM databases
GlyGeni | O00429, 2 sites |
iPTMneti | O00429 |
MetOSitei | O00429 |
PhosphoSitePlusi | O00429 |
SwissPalmi | O00429 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000087470, Expressed in intestine and 246 other tissues |
ExpressionAtlasi | O00429, baseline and differential |
Genevisiblei | O00429, HS |
Organism-specific databases
HPAi | ENSG00000087470, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED domain of another DNM1L molecule. Oligomerizes in a GTP-dependent manner to form membrane-associated tubules with a spiral pattern.
Interacts with GSK3B and MARCHF5.
Interacts (via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L, mainly in its B domain.
Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria.
Interacts with BCL2L1 isoform BCL-X(L) and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF.
Interacts with MFF; the interaction is inhinited by C11orf65/MFI.
Interacts with FIS1.
Interacts with MIEF2 and MIEF1; GTP-dependent, regulates GTP hydrolysis and DNM1L oligomerization.
Interacts with PGAM5; this interaction leads to dephosphorylation at Ser-656 and activation of GTPase activity and eventually to mitochondria fragmentation.
By similarity17 PublicationsBinary interactionsi
Hide detailsO00429
DNM1L - isoform 2 [O00429-3]
With | #Exp. | IntAct |
---|---|---|
itself | 8 | EBI-6896746,EBI-6896746 |
LRRK2 [Q5S007] | 2 | EBI-6896746,EBI-5323863 |
DNM1L - isoform 3 [O00429-4]
With | #Exp. | IntAct |
---|---|---|
itself | 2 | EBI-4420450,EBI-4420450 |
GO - Molecular functioni
- BH2 domain binding Source: Ensembl
- clathrin binding Source: Ensembl
- GTP-dependent protein binding Source: ParkinsonsUK-UCL
- identical protein binding Source: IntAct
- microtubule binding Source: GO_Central
- protein homodimerization activity Source: UniProtKB
- Rab GTPase binding Source: ParkinsonsUK-UCL
- ubiquitin protein ligase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115370, 232 interactors |
CORUMi | O00429 |
DIPi | DIP-42704N |
IntActi | O00429, 217 interactors |
MINTi | O00429 |
STRINGi | 9606.ENSP00000449089 |
Miscellaneous databases
RNActi | O00429, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O00429 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 22 – 302 | Dynamin-type GPROSITE-ProRule annotationAdd BLAST | 281 | |
Domaini | 644 – 735 | GEDPROSITE-ProRule annotationAdd BLAST | 92 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 32 – 39 | G1 motifPROSITE-ProRule annotation | 8 | |
Regioni | 58 – 60 | G2 motifPROSITE-ProRule annotation | 3 | |
Regioni | 146 – 149 | G3 motifPROSITE-ProRule annotation | 4 | |
Regioni | 215 – 218 | G4 motifPROSITE-ProRule annotation | 4 | |
Regioni | 245 – 248 | G5 motifPROSITE-ProRule annotation | 4 | |
Regioni | 344 – 489 | Middle domain1 PublicationAdd BLAST | 146 | |
Regioni | 448 – 685 | Interaction with GSK3B1 PublicationAdd BLAST | 238 | |
Regioni | 502 – 569 | B domain1 PublicationAdd BLAST | 68 | |
Regioni | 654 – 668 | Important for homodimerization1 PublicationAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0446, Eukaryota |
GeneTreei | ENSGT00940000155504 |
HOGENOMi | CLU_008964_5_4_1 |
InParanoidi | O00429 |
OMAi | KTRVNIM |
PhylomeDBi | O00429 |
TreeFami | TF352031 |
Family and domain databases
CDDi | cd08771, DLP_1, 1 hit |
DisProti | DP01537 [O00429-3] DP01540 |
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR030556, DNM1L IPR000375, Dynamin_central IPR001401, Dynamin_GTPase IPR019762, Dynamin_GTPase_CS IPR022812, Dynamin_SF IPR030381, G_DYNAMIN_dom IPR003130, GED IPR020850, GED_dom IPR027417, P-loop_NTPase IPR011993, PH-like_dom_sf |
PANTHERi | PTHR11566, PTHR11566, 1 hit PTHR11566:SF39, PTHR11566:SF39, 1 hit |
Pfami | View protein in Pfam PF01031, Dynamin_M, 1 hit PF00350, Dynamin_N, 1 hit PF02212, GED, 1 hit |
PRINTSi | PR00195, DYNAMIN |
SMARTi | View protein in SMART SM00053, DYNc, 1 hit SM00302, GED, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00410, G_DYNAMIN_1, 1 hit PS51718, G_DYNAMIN_2, 1 hit PS51388, GED, 1 hit |
s (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL
60 70 80 90 100
LPRGTGIVTR RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL
110 120 130 140 150
YTDFDEIRQE IENETERISG NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM
160 170 180 190 200
TKVPVGDQPK DIELQIRELI LRFISNPNSI ILAVTAANTD MATSEALKIS
210 220 230 240 250
REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG IIGVVNRSQL
260 270 280 290 300
DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
310 320 330 340 350
LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG
360 370 380 390 400
TAKYIETSEL CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT
410 420 430 440 450
GPRPALFVPE VSFELLVKRQ IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS
460 470 480 490 500
TQELLRFPKL HDAIVEVVTC LLRKRLPVTN EMVHNLVAIE LAYINTKHPD
510 520 530 540 550
FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL APASQEPSPA
560 570 580 590 600
ASAEADGKLI QDSRRETKNV ASGGGGVGDG VQEPTTGNWR GMLKTSKAEE
610 620 630 640 650
LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE QRDCEVIERL
660 670 680 690 700
IKSYFLIVRK NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL
710 720 730
TESEDMAQRR KEAADMLKAL QGASQIIAEI RETHLW
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VZ52 | F8VZ52_HUMAN | Dynamin-1-like protein | DNM1L | 261 | Annotation score: | ||
B4DDQ3 | B4DDQ3_HUMAN | Dynamin-1-like protein | DNM1L | 180 | Annotation score: | ||
B4DPZ9 | B4DPZ9_HUMAN | Dynamin-1-like protein | DNM1L | 156 | Annotation score: | ||
F8VYL3 | F8VYL3_HUMAN | Dynamin-1-like protein | DNM1L | 117 | Annotation score: | ||
F8VUJ9 | F8VUJ9_HUMAN | Dynamin-1-like protein | DNM1L | 172 | Annotation score: | ||
F8W1W3 | F8W1W3_HUMAN | Dynamin-1-like protein | DNM1L | 168 | Annotation score: | ||
F8VR28 | F8VR28_HUMAN | Dynamin-1-like protein | DNM1L | 97 | Annotation score: | ||
H0YHY4 | H0YHY4_HUMAN | Dynamin-1-like protein | DNM1L | 54 | Annotation score: | ||
H0YI79 | H0YI79_HUMAN | Dynamin-1-like protein | DNM1L | 48 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 208 | R → C in AAC35283 (PubMed:9731200).Curated | 1 | |
Sequence conflicti | 208 | R → C in AAD39541 (PubMed:10749171).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080869 | 2 | E → A in OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs1555229948EnsemblClinVar. | 1 | |
Natural variantiVAR_080870 | 36 | S → G in EMPF1; autosomal recessive; impaired mitochondrial membrane fission; hypomorphic mutation retaining partial activity in mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs879255688EnsemblClinVar. | 1 | |
Natural variantiVAR_022446 | 71 | S → T3 PublicationsCorresponds to variant dbSNP:rs1064610Ensembl. | 1 | |
Natural variantiVAR_080871 | 192 | A → E in OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission. 1 PublicationCorresponds to variant dbSNP:rs1555119216EnsemblClinVar. | 1 | |
Natural variantiVAR_076316 | 362 | G → D in EMPF1; unknown pathological significance; unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site; presence of concentric cristae and/or increased dense granules in some mitochondria. 2 PublicationsCorresponds to variant dbSNP:rs879255685EnsemblClinVar. | 1 | |
Natural variantiVAR_076317 | 362 | G → S in EMPF1; the mutation acts in a dominant-negative manner; defects observed in mitochondrial fission; significant decrease in mitochondrial respiratory chain complex IV activity. 1 PublicationCorresponds to variant dbSNP:rs886037861EnsemblClinVar. | 1 | |
Natural variantiVAR_063704 | 395 | A → D in EMPF1; the mutation acts in a dominant-negative manner; defects observed in both mitochondrial and peroxisomal fission; reduced oligomerization, decreased mitochondrial recruitment. 2 PublicationsCorresponds to variant dbSNP:rs121908531EnsemblClinVar. | 1 | |
Natural variantiVAR_076318 | 403 | R → C in EMPF1; the mutation acts in a dominant-negative manner; reduced oligomerization; decreased mitochondrial recruitment; defects observed in mitochondrial fission. 1 PublicationCorresponds to variant dbSNP:rs863223953EnsemblClinVar. | 1 | |
Natural variantiVAR_080872 | 406 | L → S in EMPF1; impaired mitochondrial and peroxisomal membrane fission. 1 Publication | 1 | |
Natural variantiVAR_030489 | 426 | E → D. Corresponds to variant dbSNP:rs2389105Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054544 | 1 – 43 | MEALI…SSVLE → MFHKKINGKQQEKKMTLLHG KTQDTFLKGWKQKNGVNFFT PKI in isoform 7. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_054545 | 44 – 246 | Missing in isoform 7. 1 PublicationAdd BLAST | 203 | |
Alternative sequenceiVSP_039097 | 83 | N → NDPATWKNSRHLSK in isoform 6, isoform 8 and isoform 9. 2 Publications | 1 | |
Alternative sequenceiVSP_013685 | 533 – 569 | Missing in isoform 3 and isoform 9. 3 PublicationsAdd BLAST | 37 | |
Alternative sequenceiVSP_013686 | 533 – 558 | Missing in isoform 2. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_013687 | 544 – 569 | Missing in isoform 5. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_013688 | 559 – 569 | Missing in isoform 4 and isoform 8. 2 PublicationsAdd BLAST | 11 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB006965 mRNA Translation: BAA22193.1 AF061795 mRNA Translation: AAC35283.1 AF000430 mRNA Translation: AAC23724.1 AF151685 mRNA Translation: AAD39541.1 AK299926 mRNA Translation: BAG61760.1 AK291094 mRNA Translation: BAF83783.1 AK294533 mRNA Translation: BAG57740.1 AB209070 mRNA Translation: BAD92307.1 Different initiation. AC084824 Genomic DNA No translation available. AC087588 Genomic DNA No translation available. |