Phospho-DNM1 (Ser774) Antibody

1. Twin siblings exhibiting mild to moderate intellectual disability and autistic symptoms, but without epileptic encephalopathy, were found to harbor a genetic variant, c.1603A>G (p.Lys535Glu), located in the PH domain of dynamin 1. The twin sisters in this study shared the de novo variant, c.1603A>G (p.Lys535Glu) in exon 15 of DNM1, classified as likely pathogenic. PMID: 29397573
2. Research indicates that the dynamin-amphiphysin helices undergo rearrangement to form clusters upon GTP hydrolysis, leading to membrane constriction at protein-uncoated regions flanking the clusters. PMID: 29357276
3. Collectively, these findings suggest that while endophilin assists in shaping endocytic tubules and recruiting dynamin to endocytic sites, an excess of endophilin can inhibit inter-dynamin interactions, thereby impeding membrane fission. PMID: 28933693
4. Studies demonstrate that in fibroblasts, dynamin GTP hydrolysis occurs as stochastic bursts, randomly distributed relative to the peak of dynamin assembly. This indicates that dynamin disassembly is not directly linked to GTPase activity, suggesting that the GTP energy is primarily utilized for constriction. PMID: 29022874
5. Dynamin isoforms exert differential regulation on the endocytosis and apoptotic signaling pathways downstream of TRAIL-death receptor (TRAIL-DR) complexes in cancer cells. TRAIL stimulation triggers ryanodine receptor-mediated calcium release from endoplasmic reticulum stores, leading to calcineurin-mediated dephosphorylation and activation of Dyn1. This process facilitates TRAIL-DR endocytosis and increases resistance to TRAIL-induced apoptosis. PMID: 28049841
6. Three genes identified in our epilepsy cohort (COQ4, DNM1, and PURA), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications. PMID: 26795593
7. This study delineates the phenotypic spectrum of DNM1 encephalopathy, an emerging disease associated with synaptic vesicle fission. It is characterized by severe to profound developmental delay, infantile-onset epilepsy beginning with infantile spasms, and movement disorder. The genetic landscape of DNM1 encephalopathy is notable for the recurrent c.709C>T (p.Arg237Trp) variant and the localization of mutations to specific domains of the protein. PMID: 28667181
8. CLCb/Dyn1-dependent adaptive clathrin-mediated endocytosis selectively modifies EGF receptor trafficking. PMID: 28171750
9. Down-regulation of Dyn1 activity enhances extracellular Nme1 levels in human colon tumor cell lines. PMID: 27449069
10. Hypoxic down-regulation of constitutive endocytosis occurs independently of HIF and involves caveolin-1-mediated inhibition of dynamin-dependent, membrane raft endocytosis. PMID: 27094744
11. This study reports on two patients with early-onset epileptic encephalopathy exhibiting de novo DNM1 mutations. It identified a novel mutation c.127G>A (p.Gly43Ser) in a patient with Lennox-Gastaut syndrome and a recurrent mutation c.709C>T (p.Arg237Trp) in a patient with West syndrome. PMID: 26611353
12. Rare variants in DNM1 were found to be significantly associated with smoking status. PMID: 25450229
13. Data indicate that the stimulation of dynamin GTPase activity by SH3 domains is determined by its middle domain. PMID: 26659814
14. Molecular simulations corroborate the bimodal nature of dynamin action, suggesting that radial and axial forces are dominant, although not independent, drivers of hemi-fission and fission membrane transformations, respectively. PMID: 26123023
15. Research provides real-time insights into the dynamics of a dynamin 1-catalyzed GTP hydrolysis and tube-severing reaction using fluorescence microscopy. PMID: 26479317
16. This study identified and confirmed DNM1 protein alterations within the postsynaptic density in schizophrenia. PMID: 25048004
17. Findings support a role for HTT on dynamin 1 function and ER homeostasis. Proteolysis-induced alteration of this function may be relevant to disease development. PMID: 26165689
18. CRISPR-Cas9n-mediated knockout and reconstitution studies establish that dynamin-1 is activated by Akt/GSK3beta signaling in H1299 non-small lung cancer cells. PMID: 26139537
19. Data suggest that by binding to both clathrin and F-actin, mammalian actin-binding protein 1 (mAbp1; HIP-55 or SH3P7) is specifically recruited at a late stage of clathrin-coated pits (CCPs) formation. This subsequently recruits dynamin to CCPs. PMID: 25690657
20. Dynamin 1 and dynamin 2 activity are not essential for Chlamydia trachomatis internalization but are required for normal development. PMID: 25116793
21. Activity-dependent acceleration is prominent at physiological temperature and is mediated by the dephosphorylation of dynamin 1. PMID: 23908769
22. This study identified the alpha-synuclein-binding domain of beta-III tubulin and demonstrated that a short fragment containing this domain can suppress alpha-synuclein accumulation in primary cultured cells. PMID: 25031323
23. De novo mutations in synaptic transmission genes, including DNM1, contribute to epileptic encephalopathies. PMID: 25262651
24. Data show that the classical dynamin DNM1 and DNM3 genes reach their maximum expression levels (100% of maximal expression) in all normal central nervous system tissues examined. PMID: 24673776
25. Alternative pleckstrin homology domain orientations regulate dynamin-catalyzed membrane fission. PMID: 24478459
26. Dynamin1 is associated with both preserved cognition and regenerative responses in older individuals with cerebrovascular disease, potentially representing a novel treatment target. PMID: 24486840
27. Findings demonstrate that NDPKs (NM23-H1/H2/H4) interact with and provide GTP to dynamins, allowing these motor proteins to function with high thermodynamic efficiency for membrane remodeling. PMID: 24970086
28. Data suggest that dynorphin A (DynA) is a ligand for opioid receptor kappa (KOR). Upon DynA binding, only minor chemical shifts are observed in the second extracellular loop of KOR. Chemical shift changes in DynA conclusively demonstrate its interaction with KOR. PMID: 24616919
29. The discovery that the pre-mRNA sequence of dnm1 in humans exhibits sequence features similar to those observed in alternative splicing patterns in insects significantly expands the applicability of the docking site-selector sequence pairing model to bilaterian animals. PMID: 23793749
30. Analysis of how disease-related dynorphin A variants induce differences in cell toxicity. PMID: 23705820
31. Dyn1 influences amyloid generation by regulating the subcellular localization of BACE-1 and, consequently, its enzymatic activities. PMID: 23024787
32. Herpes simplex virus type 1 can enter human keratinocytes through alternative entry pathways that require dynamin and host cholesterol. PMID: 22022400
33. This study presents the GMPPCP-bound structures of the truncated human dynamin 1 helical polymer at 12.2 Å resolution and a fusion protein, GG, linking human dynamin 1's catalytic G domain to its GTPase effector domain (GED) at 2.2 Å resolution. PMID: 21962517
34. The crystal structure of human dynamin 1 in the nucleotide-free state reveals a four-domain architecture comprising the GTPase domain, the bundle signaling element, the stalk, and the pleckstrin homology domain. PMID: 21927000
35. A novel role for the dynamin-1 GTPase in the regulation of fusion pore expansion. PMID: 21460182
36. In conclusion, Clostridium botulinum C2 toxin is endocytosed through dynamin-dependent mechanisms, and evidence supports the involvement of clathrin and Rho. PMID: 20690924
37. The 2.0 Å resolution crystal structure of a human dynamin 1-derived minimal GTPase-GED fusion protein reveals its dimeric nature in the presence of the transition state mimic GDP.AlF(4)(-) PMID: 20428113
38. Endocytosis of FcalphaR is clathrin- and dynamin-dependent but is not regulated by Rab5. The endocytic motif is not located within the cytoplasmic domain of FcalphaR. PMID: 19859085
39. Data suggest that the components of the GTPase-GED interface act as an intramolecular signaling module, referred to as the bundle signaling element, which can modulate dynamin function in vitro and in vivo. PMID: 19515832
40. Results demonstrate that, in conjunction with dynamin-1 self-assembly, pleckstrin homology domain membrane insertion is essential for fission and vesicle release in vitro and for clathrin-mediated endocytosis in vivo. PMID: 19776347
41. These findings suggest that dynamin is part of a protein network that controls actin nucleation from membranes. PMID: 11782545
42. Dynamin-dependent endocytosis is inhibited by syntaphilin. PMID: 12896979
43. Serglycin-bound granzyme B in high-molecular-weight degranulate material from cytotoxic T lymphocytes predominantly utilizes a dynamin-dependent pathway to kill target cells. PMID: 14739229
44. Point mutations were introduced into the GTPase effector/assembly domain (GED) of dynamin 1 and their effects on self-assembly and clathrin-mediated endocytosis were evaluated. PMID: 15004222
45. Dynamin-1 interacts with Sumo-1, Ubc9, and PIAS-1, all of which are components of the sumoylation machinery. PMID: 15123615
46. The GTPase domain of dynamin is crucial for GTP binding, GTP hydrolysis, and clathrin-mediated endocytosis. PMID: 15262989
47. Dynamin, Cbl, and Src work collaboratively in signaling complexes that are essential for the assembly and remodeling of the actin cytoskeleton, leading to modifications in osteoclast adhesion, migration, and resorption. PMID: 15872089
48. S-nitrosylation of dynamin regulates endocytosis through nitric oxide. PMID: 16432212
49. PLD functions as a GTPase activating protein (GAP) through its phox homology domain (PX), directly activating the GTPase domain of dynamin and increasing epidermal growth factor receptor (EGFR) endocytosis at physiological EGF concentrations. PMID: 16622417
50. Data indicate that replacing the highly homologous GTPase domain of dynamin-2 with that of dynamin-1 is sufficient to confer caspase-3 activation. PMID: 16938290

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HGNC: 2972

OMIM: 602377

KEGG: hsa:1759

STRING: 9606.ENSP00000362014

UniGene: Hs.522413