Details for: DNM1

Gene ID: 1759

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: DNM1

Ensembl ID: ENSG00000106976

Description: dynamin 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • pvalb GABAergic cortical interneuron CL4023018
    CSI 40.74
    rCSI 50.68%
    PRS 78.14
  • sst GABAergic cortical interneuron CL4023017
    CSI 35.78
    rCSI 46.13%
    PRS 81.44
  • VIP GABAergic cortical interneuron CL4023016
    CSI 31.52
    rCSI 37.65%
    PRS 80.38
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 30.58
    rCSI 51.32%
    PRS 80.32
  • cerebellar granule cell CL0001031
    CSI 29.23
    rCSI 42.98%
    PRS 87.53
  • sncg GABAergic cortical interneuron CL4023015
    CSI 28.93
    rCSI 46.52%
    PRS 81.37
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 24.41
    rCSI 43.11%
    PRS 79.78
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 21.53
    rCSI 52.32%
    PRS 78.19
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 21.48
    rCSI 46.6%
    PRS 81.53
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 17.91
    rCSI 42.83%
    PRS 82.62
  • neuron CL0000540
    CSI 17.51
    rCSI 46.63%
    PRS 80.92
  • L6b glutamatergic cortical neuron CL4023038
    CSI 17.05
    rCSI 53.28%
    PRS 81.61
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 16.75
    rCSI 52.4%
    PRS 83.31
  • retinal ganglion cell CL0000740
    CSI 15.38
    rCSI 33.98%
    PRS 82.63
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 14.89
    rCSI 53.59%
    PRS 78.44
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 14.27
    rCSI 46.9%
    PRS 81.49
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 14.17
    rCSI 53.55%
    PRS 80.53
  • interneuron CL0000099
    CSI 14.01
    rCSI 28.13%
    PRS 86.59
  • cerebral cortex neuron CL0010012
    CSI 10.33
    rCSI 42.09%
    PRS 85.26
  • skin fibroblast CL0002620
    CSI 10.28
    rCSI 8.87%
    PRS 91.35
  • neural cell CL0002319
    CSI 9.88
    rCSI 37.3%
    PRS 78.52
  • pancreatic D cell CL0000173
    CSI 9.86
    rCSI 9.7%
    PRS 93.44
  • GABAergic amacrine cell CL4030027
    CSI 9.59
    rCSI 32.85%
    PRS 80.43
  • retinal rod cell CL0000604
    CSI 9.27
    rCSI 16.34%
    PRS 88.17
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 9.14
    rCSI 53.79%
    PRS 80.77
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 8.77
    rCSI 11.25%
    PRS 88.55
  • glutamatergic neuron CL0000679
    CSI 8.47
    rCSI 17.41%
    PRS 81.21
  • glioblast CL0000030
    CSI 8.23
    rCSI 13.13%
    PRS 85.13
  • retinal cone cell CL0000573
    CSI 7.91
    rCSI 12.73%
    PRS 84.82
  • rod bipolar cell CL0000751
    CSI 7.64
    rCSI 13.72%
    PRS 87.54
  • cerebral cortex endothelial cell CL1001602
    CSI 7.54
    rCSI 13.03%
    PRS 87.16
  • inhibitory interneuron CL0000498
    CSI 7.42
    rCSI 17.13%
    PRS 83.85
  • bronchus fibroblast of lung CL2000093
    CSI 7.36
    rCSI 5.98%
    PRS 91.22
  • pancreatic A cell CL0000171
    CSI 7.04
    rCSI 7.38%
    PRS 93.46
  • mesodermal cell CL0000222
    CSI 7
    rCSI 8.4%
    PRS 90.89
  • retinal bipolar neuron CL0000748
    CSI 6.92
    rCSI 12.97%
    PRS 84.47
  • central nervous system neuron CL2000029
    CSI 6.9
    rCSI 50.73%
    PRS 84.54
  • Mueller cell CL0000636
    CSI 6.69
    rCSI 15.27%
    PRS 86.25
  • ON-bipolar cell CL0000749
    CSI 6.69
    rCSI 9.94%
    PRS 90.63
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 6.61
    rCSI 9.38%
    PRS 90.25
  • astrocyte of the cerebral cortex CL0002605
    CSI 6.46
    rCSI 14.48%
    PRS 80.64
  • adventitial cell CL0002503
    CSI 6.38
    rCSI 15.24%
    PRS 93.88
  • parietal epithelial cell CL1000452
    CSI 6.38
    rCSI 17.05%
    PRS 87.46
  • mature astrocyte CL0002627
    CSI 6.35
    rCSI 26.98%
    PRS 85.48
  • melanocyte CL0000148
    CSI 6.19
    rCSI 4.58%
    PRS 88.81
  • amacrine cell CL0000561
    CSI 5.85
    rCSI 16.95%
    PRS 84.37
  • glycinergic amacrine cell CL4030028
    CSI 5.84
    rCSI 15.21%
    PRS 86.47
  • epithelial cell of proximal tubule CL0002306
    CSI 5.69
    rCSI 13.88%
    PRS 86.17
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 5.56
    rCSI 14.5%
    PRS 93.52
  • glial cell CL0000125
    CSI 5.52
    rCSI 21.02%
    PRS 86.11
  • OFF-bipolar cell CL0000750
    CSI 5.22
    rCSI 7.13%
    PRS 90.17
  • chondrocyte CL0000138
    CSI 5.21
    rCSI 8.29%
    PRS 87.87
  • retina horizontal cell CL0000745
    CSI 5.01
    rCSI 7.64%
    PRS 88.92
  • vascular leptomeningeal cell CL4023051
    CSI 4.9
    rCSI 8.59%
    PRS 88.9
  • smooth muscle cell CL0000192
    CSI 4.78
    rCSI 11.4%
    PRS 86.56
  • fibroblast of cardiac tissue CL0002548
    CSI 4.77
    rCSI 22.84%
    PRS 92.83
  • neural crest cell CL0011012
    CSI 4.6
    rCSI 3.64%
    PRS 85.79
  • ON parasol ganglion cell CL4033052
    CSI 3.82
    rCSI 54.21%
    PRS 85.32
  • S cone cell CL0003050
    CSI 3.58
    rCSI 15.74%
    PRS 87.93
  • alveolar adventitial fibroblast CL4028006
    CSI 3.57
    rCSI 5.65%
    PRS 92.85
  • serotonergic neuron CL0000850
    CSI 3.55
    rCSI 15.84%
    PRS 78.4
  • dopaminergic neuron CL0000700
    CSI 3.37
    rCSI 19.05%
    PRS 82.13
  • invaginating midget bipolar cell CL4033034
    CSI 3.35
    rCSI 19.77%
    PRS 83.81
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 3.32
    rCSI 6.04%
    PRS 86.23
  • kidney connecting tubule epithelial cell CL1000768
    CSI 3.32
    rCSI 8.43%
    PRS 86.71
  • medium spiny neuron CL1001474
    CSI 3.08
    rCSI 26.5%
    PRS 84.59
  • GABAergic neuron CL0000617
    CSI 2.89
    rCSI 9.68%
    PRS 79.77
  • macroglial cell CL0000126
    CSI 2.89
    rCSI 7.42%
    PRS 88.61
  • ON midget ganglion cell CL4033046
    CSI 2.89
    rCSI 58.79%
    PRS 84.21
  • OFF midget ganglion cell CL4033047
    CSI 2.76
    rCSI 56.26%
    PRS 84.93
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.59
    rCSI 6.7%
    PRS 89.76
  • keratocyte CL0002363
    CSI 2.57
    rCSI 6.18%
    PRS 92.88
  • intestinal epithelial cell CL0002563
    CSI 2.47
    rCSI 2.58%
    PRS 89.62
  • basket cell CL0000118
    CSI 2.39
    rCSI 15%
    PRS 73.32
  • direct pathway medium spiny neuron CL4023026
    CSI 2.34
    rCSI 56.04%
    PRS 78.13
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.34
    rCSI 56.38%
    PRS 78.27
  • retinal pigment epithelial cell CL0002586
    CSI 2.21
    rCSI 4.39%
    PRS 88.85
  • cerebellar neuron CL1001611
    CSI 1.74
    rCSI 15.35%
    PRS 80.12
  • Hofbauer cell CL3000001
    CSI 1.34
    rCSI 2.52%
    PRS 95.6
  • eye photoreceptor cell CL0000287
    CSI 1.26
    rCSI 14.22%
    PRS 93.36
  • neural progenitor cell CL0011020
    CSI 1.11
    rCSI 4.87%
    PRS 82.16
  • diffuse bipolar 3b cell CL4033030
    CSI 0.9
    rCSI 5.98%
    PRS 86.38
  • diffuse bipolar 3a cell CL4033029
    CSI 0.76
    rCSI 5.18%
    PRS 84.44
  • cone retinal bipolar cell CL0000752
    CSI 0.61
    rCSI 7.99%
    PRS 88.4

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [DNM1](/details-gene/1759) encodes Dynamin-1, a large GTPase that is a member of the dynamin superfamily. This protein is fundamentally involved in endocytosis, particularly the scission of newly formed vesicles from the plasma membrane. Its primary mechanism involves oligomerization into spiral or ring-like structures at the neck of budding vesicles, where its GTPase activity is thought to drive the final membrane fission event ([Link](https://doi.org/10.1038/374190a0)). Consistent with its critical role in synaptic vesicle recycling and neurotransmission, expression data shows that [DNM1](/details-gene/1759) is a highly significant gene within the central nervous system, showing prominent expression across a wide range of neuronal subtypes. Clinically, mutations in [DNM1](/details-gene/1759) are associated with developmental and epileptic encephalopathy ([OMIM: 602377](https://omim.org/entry/602377)), underscoring its indispensable role in proper neurological function. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [DNM1](/details-gene/1759) firmly establishes it as a key component of the neuronal machinery. The gene exhibits its highest significance in various subtypes of cortical interneurons, including [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 40.74), [sst GABAergic cortical interneuron](/details-cell/CL4023017) (CSI: 35.78), and [VIP GABAergic cortical interneuron](/details-cell/CL4023016) (CSI: 31.52). Its importance extends to other neuronal populations such as the [cerebellar granule cell](/details-cell/CL0001031) (CSI: 29.23) and multiple classes of glutamatergic neurons, for instance, the [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) (CSI: 21.53). This broad yet specific expression pattern across diverse [neurons](/details-cell/CL0000540) suggests that [DNM1](/details-gene/1759) is not merely a general neuronal marker but a fundamental "workhorse" protein essential for the high-demand process of synaptic vesicle endocytosis that supports sustained neurotransmission in both inhibitory and excitatory circuits. ## Pathways and Molecular Function The functional annotations for [DNM1](/details-gene/1759) are highly consistent with its cellular expression profile. Its molecular functions are centered on [GTPase activity](/details-go/GO:0003924) and binding to GTP ([GO:0005525](https://www.ebi.ac.uk/QuickGO/term/GO:0005525)), phospholipids like phosphatidylinositol-4,5-bisphosphate ([GO:0005546](https://www.ebi.ac.uk/QuickGO/term/GO:0005546)), and microtubules ([GO:0008017](https://www.ebi.ac.uk/QuickGO/term/GO:0008017)). These activities are integral to its role in biological processes such as [Endocytosis](/details-go/GO:0006897), [Vesicle scission](/details-go/GO:0099050), and specifically, [Synaptic vesicle budding from presynaptic endocytic zone membrane](/details-go/GO:0016185). Pathway analysis reinforces this role, placing [DNM1](/details-gene/1759) as a central player in '[Clathrin-mediated endocytosis](/details-pathway/R-HSA-8856828)' and more broadly in '[Vesicle-mediated transport](/details-pathway/R-HSA-5653656)'. Its involvement in '[Nervous system development](/details-pathway/R-HSA-9675108)' and '[Axon guidance](/details-pathway/R-HSA-422475)' aligns perfectly with its high expression in neurons and the severe neurological phenotypes associated with its mutation. Interestingly, [DNM1](/details-gene/1759) is also annotated to pathways within the '[Immune system](/details-pathway/R-HSA-168256)', including '[Mhc class ii antigen presentation](/details-pathway/R-HSA-2132295)' and '[Toll-like receptor cascades](/details-pathway/R-HSA-168898)', suggesting that its canonical endocytic functions may be co-opted for specialized roles in immune surveillance and response, even though these cell types do not feature in the top expression list under baseline conditions. ## Research Directions The available data highlights the central role of [DNM1](/details-gene/1759) in neuronal function. However, several questions remain regarding the specificity of its regulation and its potential non-neuronal roles. Based on this, several testable hypotheses can be proposed: 1. The differential high expression of [DNM1](/details-gene/1759) across various interneuron subtypes ([pvalb](/details-cell/CL4023018), [sst](/details-cell/CL4023017), [VIP](/details-cell/CL4023016)) is directly proportional to the demand for synaptic vesicle recycling required to sustain their distinct firing patterns. Higher [DNM1](/details-gene/1759) levels may enable faster recovery from synaptic depression in high-frequency firing neurons. 2. Although expressed at lower levels, [DNM1](/details-gene/1759) plays a critical, stimulus-dependent role in professional antigen-presenting cells. Its function may be specifically required for the internalization of antigen-receptor complexes during the initiation of an adaptive immune response, as suggested by its link to the '[Mhc class ii antigen presentation](/details-pathway/R-HSA-2132295)' pathway. A key experiment to test the first hypothesis would be to use a conditional knockout mouse model to selectively delete [DNM1](/details-gene/1759) in a specific neuronal population, such as Pvalb-positive interneurons (Pvalb-Cre;Dnm1-flox/flox). One could then perform *ex vivo* brain slice electrophysiology to measure synaptic transmission and plasticity at synapses made by these interneurons. Comparing synaptic depression during high-frequency stimulation trains between knockout and control animals would directly assess the role of [DNM1](/details-gene/1759) in sustaining neurotransmitter release in that specific circuit. From a therapeutic perspective, [DNM1](/details-gene/1759) presents a challenging target due to its fundamental role in neuronal function. Global inhibition would likely be highly toxic. However, for diseases caused by dominant-negative mutations, therapeutic strategies could focus on developing allele-specific silencing RNAs (ASO or siRNA) to reduce the expression of the mutant protein. Alternatively, small molecule chaperones or stabilizers that can restore partial function to the misfolded or dysfunctional mutant Dynamin-1 protein could represent a viable path forward for treating associated epileptic encephalopathies.

Genular Protein ID: 1625338642

Symbol: DYN1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q05193 A6NLM6 Q5SYX0 Q5SYX2 Q6P3T6 Q86VD2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 2 CORUM 1 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugCentral 1 EC 1 EMBL 7 EMDB 10 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 36 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 22 PDBsum 22 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 8 RefSeq 8 Rhea 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8101525

Title: Mutations in human dynamin block an intermediate stage in coated vesicle formation.

PubMed ID: 8101525

DOI: 10.1083/jcb.122.3.553

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7877694

Title: Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.

PubMed ID: 7877694

DOI: 10.1038/374190a0

PubMed ID: 8910402

Title: Regulation of dynamin I GTPase activity by G protein betagamma subunits and phosphatidylinositol 4,5-bisphosphate.

PubMed ID: 8910402

DOI: 10.1074/jbc.271.45.27979

PubMed ID: 9362482

Title: Domain structure and intramolecular regulation of dynamin GTPase.

PubMed ID: 9362482

DOI: 10.1093/emboj/16.22.6676

PubMed ID: 9922133

Title: Dual function C-terminal domain of dynamin-1: modulation of self-assembly by interaction of the assembly site with SH3 domains.

PubMed ID: 9922133

DOI: 10.1021/bi981180g

PubMed ID: 9765310

Title: The pleckstrin homology domains of dynamin isoforms require oligomerization for high affinity phosphoinositide binding.

PubMed ID: 9765310

DOI: 10.1074/jbc.273.42.27725

PubMed ID: 10074457

Title: Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

PubMed ID: 10074457

DOI: 10.1016/s0960-9822(99)80115-8

PubMed ID: 12198492

Title: Imaging actin and dynamin recruitment during invagination of single clathrin-coated pits.

PubMed ID: 12198492

DOI: 10.1038/ncb837

PubMed ID: 12791276

Title: Auxilin-dynamin interactions link the uncoating ATPase chaperone machinery with vesicle formation.

PubMed ID: 12791276

DOI: 10.1016/s1534-5807(03)00157-6

PubMed ID: 15703209

Title: SNX9 regulates dynamin assembly and is required for efficient clathrin-mediated endocytosis.

PubMed ID: 15703209

DOI: 10.1091/mbc.e04-11-1016

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17257598

Title: Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis.

PubMed ID: 17257598

DOI: 10.1016/j.febslet.2007.01.021

PubMed ID: 19084269

Title: GTPase cycle of dynamin is coupled to membrane squeeze and release, leading to spontaneous fission.

PubMed ID: 19084269

DOI: 10.1016/j.cell.2008.11.028

PubMed ID: 18353773

Title: A novel sorting nexin modulates endocytic trafficking and alpha-secretase cleavage of the amyloid precursor protein.

PubMed ID: 18353773

DOI: 10.1074/jbc.m801531200

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23325789

Title: cAMP-stimulated phosphorylation of diaphanous 1 regulates protein stability and interaction with binding partners in adrenocortical cells.

PubMed ID: 23325789

DOI: 10.1091/mbc.e12-08-0597

PubMed ID: 29668686

Title: A noncanonical role for dynamin-1 in regulating early stages of clathrin-mediated endocytosis in non-neuronal cells.

PubMed ID: 29668686

DOI: 10.1371/journal.pbio.2005377

PubMed ID: 25262651

Title: De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PubMed ID: 25262651

DOI: 10.1016/j.ajhg.2014.08.013

PubMed ID: 25533962

Title: Large-scale discovery of novel genetic causes of developmental disorders.

PubMed ID: 25533962

DOI: 10.1038/nature14135

PubMed ID: 7850421

Title: Three-dimensional solution structure of the pleckstrin homology domain from dynamin.

PubMed ID: 7850421

DOI: 10.1016/s0960-9822(00)00197-4

PubMed ID: 7954789

Title: Crystal structure at 2.2-A resolution of the pleckstrin homology domain from human dynamin.

PubMed ID: 7954789

DOI: 10.1016/0092-8674(94)90190-2

PubMed ID: 7634088

Title: Crystal structure of the pleckstrin homology domain from dynamin.

PubMed ID: 7634088

DOI: 10.1038/nsb1194-782

PubMed ID: 20428113

Title: G domain dimerization controls dynamin's assembly-stimulated GTPase activity.

PubMed ID: 20428113

DOI: 10.1038/nature09032

PubMed ID: 26612256

Title: Crystal structure of the GTPase domain and the bundle signalling element of dynamin in the GDP state.

PubMed ID: 26612256

DOI: 10.1016/j.bbrc.2015.11.074

PubMed ID: 30069048

Title: Cryo-EM of the dynamin polymer assembled on lipid membrane.

PubMed ID: 30069048

DOI: 10.1038/s41586-018-0378-6

PubMed ID: 27476654

Title: De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.

PubMed ID: 27476654

DOI: 10.1016/j.ajhg.2016.06.003

PubMed ID: 36553519

Title: Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.

PubMed ID: 36553519

DOI: 10.3390/genes13122252

PubMed ID: 34172529

Title: Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

PubMed ID: 34172529

DOI: 10.1136/jmedgenet-2021-107769

Sequence Information:

  • Length: 864
  • Mass: 97408
  • Checksum: 7FCD8CB572FFEAEF
  • Sequence:
    • MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG 
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI 
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD 
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK 
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL 
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA 
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI 
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID 
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE 
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY 
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE 
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE 
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT 
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP 
PGVPSRSGQA SPSRPESPRP PFDL

Genular Protein ID: 183585983

Symbol: B4DK06_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DK06

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 9 Gene3D 3 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 7 Pfam 4 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SUPFAM 2

Sequence Information:

  • Length: 851
  • Mass: 95828
  • Checksum: 7BEDB48D8F649E69
  • Sequence:
    • MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG 
SGIVTRRLLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI 
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD 
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK 
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL 
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA 
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQVQKL 
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID 
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE 
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY 
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE 
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE 
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SCLQVQSVPA GRRSPTSSPT 
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP 
PGVPRITISD P

Genular Protein ID: 3920745040

Symbol: B7ZAC0_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZAC0

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 9 Gene3D 3 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 7 PeptideAtlas 1 Pfam 4 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SUPFAM 2

Sequence Information:

  • Length: 851
  • Mass: 95823
  • Checksum: 430C59CBEC697BAA
  • Sequence:
    • MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG 
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI 
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD 
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK 
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL 
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA 
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQVQKL 
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKGQVMLLID 
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE 
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY 
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE 
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE 
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT 
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP 
PGVPRITISD P