Details for: DNM1

Gene ID: 1759

Symbol: DNM1

Ensembl ID: ENSG00000106976

Description: dynamin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 249.5094
    Cell Significance Index: -38.8100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 151.5711
    Cell Significance Index: -38.4500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 75.0756
    Cell Significance Index: -30.5000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.4853
    Cell Significance Index: -38.8200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.2930
    Cell Significance Index: -18.1500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 5.4780
    Cell Significance Index: 67.9500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 3.7863
    Cell Significance Index: 108.0500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.9528
    Cell Significance Index: 22.7600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.9318
    Cell Significance Index: 153.9300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8994
    Cell Significance Index: 581.6200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.7700
    Cell Significance Index: 47.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.7442
    Cell Significance Index: 184.5200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.6812
    Cell Significance Index: 168.9900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.4318
    Cell Significance Index: 32.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.3051
    Cell Significance Index: 826.8000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.0016
    Cell Significance Index: 23.8600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.5981
    Cell Significance Index: 31.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.5736
    Cell Significance Index: 1088.3300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.5607
    Cell Significance Index: 59.1000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.5179
    Cell Significance Index: 67.1400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.4571
    Cell Significance Index: 89.5600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 1.2210
    Cell Significance Index: 15.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1221
    Cell Significance Index: 213.5500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.9301
    Cell Significance Index: 7.6800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.8402
    Cell Significance Index: 20.1500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7660
    Cell Significance Index: 75.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6368
    Cell Significance Index: 574.9600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6167
    Cell Significance Index: 122.3800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3734
    Cell Significance Index: 8.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3424
    Cell Significance Index: 55.6900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.3376
    Cell Significance Index: 4.2100
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.3194
    Cell Significance Index: 2.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2171
    Cell Significance Index: 23.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2155
    Cell Significance Index: 12.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1144
    Cell Significance Index: 3.3000
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.0843
    Cell Significance Index: 0.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0352
    Cell Significance Index: 0.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0282
    Cell Significance Index: 43.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0278
    Cell Significance Index: 52.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0219
    Cell Significance Index: 0.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0218
    Cell Significance Index: 0.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0211
    Cell Significance Index: 28.7500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0165
    Cell Significance Index: 30.4100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0138
    Cell Significance Index: 0.1500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0126
    Cell Significance Index: 0.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0040
    Cell Significance Index: -0.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0053
    Cell Significance Index: -2.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0106
    Cell Significance Index: -4.8100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0113
    Cell Significance Index: -0.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0257
    Cell Significance Index: -11.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0272
    Cell Significance Index: -17.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0285
    Cell Significance Index: -1.9700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0301
    Cell Significance Index: -4.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0372
    Cell Significance Index: -27.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0438
    Cell Significance Index: -32.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0526
    Cell Significance Index: -39.8000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0539
    Cell Significance Index: -0.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0594
    Cell Significance Index: -33.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0654
    Cell Significance Index: -40.8700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0692
    Cell Significance Index: -4.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0859
    Cell Significance Index: -12.4800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0936
    Cell Significance Index: -1.8500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0973
    Cell Significance Index: -11.3400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1017
    Cell Significance Index: -1.4600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1095
    Cell Significance Index: -31.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1260
    Cell Significance Index: -21.5200
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1378
    Cell Significance Index: -1.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1383
    Cell Significance Index: -17.0000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1604
    Cell Significance Index: -3.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1656
    Cell Significance Index: -10.1500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1751
    Cell Significance Index: -22.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1764
    Cell Significance Index: -37.1500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1830
    Cell Significance Index: -2.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2407
    Cell Significance Index: -31.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2703
    Cell Significance Index: -27.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2892
    Cell Significance Index: -9.2100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2980
    Cell Significance Index: -9.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3031
    Cell Significance Index: -34.7300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3104
    Cell Significance Index: -36.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3389
    Cell Significance Index: -26.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3428
    Cell Significance Index: -35.6900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4208
    Cell Significance Index: -33.3300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4363
    Cell Significance Index: -28.1500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4401
    Cell Significance Index: -32.8000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.4430
    Cell Significance Index: -7.3000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4620
    Cell Significance Index: -5.8300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4728
    Cell Significance Index: -10.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4754
    Cell Significance Index: -10.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4768
    Cell Significance Index: -33.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4853
    Cell Significance Index: -15.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4875
    Cell Significance Index: -22.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4895
    Cell Significance Index: -13.6800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5107
    Cell Significance Index: -26.5300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.5491
    Cell Significance Index: -5.7200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5516
    Cell Significance Index: -13.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5725
    Cell Significance Index: -16.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5846
    Cell Significance Index: -30.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6002
    Cell Significance Index: -10.0500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6348
    Cell Significance Index: -22.2400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.6542
    Cell Significance Index: -5.3400

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.

Other Information

**Key Characteristics:** DNM1 exhibits several distinctive characteristics that contribute to its multifaceted functions. These include: 1. **GTPase activity**: DNM1 possesses GTPase activity, which allows it to hydrolyze GTP and regulate its own activity, as well as that of its associated proteins. 2. **Clathrin-coated pit formation**: DNM1 is a critical component of the clathrin-coated pit, a complex structure that forms around receptors and cargo, facilitating their internalization. 3. **Membrane trafficking**: DNM1 is involved in the scission of vesicles from the plasma membrane, regulating the transport of cargo to various cellular compartments. 4. **Protein binding**: DNM1 interacts with a wide range of proteins, including receptors, cargo, and other dynamin family members. **Pathways and Functions:** DNM1 is involved in several key pathways and functions, including: 1. **Adaptive immune system**: DNM1 plays a critical role in the regulation of antigen presentation, particularly in the context of MHC class II molecules. 2. **Axon guidance**: DNM1 is involved in the regulation of axon guidance and the formation of synapses. 3. **Cell projection**: DNM1 is required for the formation and maintenance of cell projections, such as dendrites and axons. 4. **Endocytic vesicle formation**: DNM1 is involved in the formation and scission of endocytic vesicles, regulating their transport and cargo. 5. **Synaptic transmission**: DNM1 modulates synaptic transmission, particularly in the context of glutamatergic synapses. **Clinical Significance:** DNM1 has been implicated in several neurological and immunological disorders, including: 1. **Neurological disorders**: Mutations in DNM1 have been associated with neurodegenerative diseases, such as Charcot-Marie-Tooth disease and spinocerebellar ataxia type 5. 2. **Immune disorders**: DNM1 has been implicated in the regulation of immune responses, particularly in the context of autoimmune diseases, such as multiple sclerosis. 3. **Cancer**: DNM1 has been shown to play a role in the regulation of cancer cell migration and invasion. In conclusion, DNM1 is a critical regulator of membrane trafficking and immune function, playing a key role in the regulation of antigen presentation, synaptic transmission, and the formation of endocytic vesicles. Its dysregulation has been implicated in several neurological and immunological disorders, highlighting the importance of this protein in maintaining cellular homeostasis and immune function.

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.