DNM1 (dynamin 1)

2003-11-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
DEE31,DNM,EIEE31
FUSION GENES

Other Information

Locus ID:

NCBI: 1759
MIM: 602377
HGNC: 2972
Ensembl: ENSG00000106976

Variants:

dbSNP: 1759
ClinVar: 1759
TCGA: ENSG00000106976
COSMIC: DNM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106976ENST00000341179Q05193
ENSG00000106976ENST00000372923Q05193
ENSG00000106976ENST00000393594Q05193
ENSG00000106976ENST00000475805Q05193
ENSG00000106976ENST00000482638H7C5U0
ENSG00000106976ENST00000486160Q05193
ENSG00000106976ENST00000625457A0A0D9SFP1
ENSG00000106976ENST00000627061A0A0D9SFB1
ENSG00000106976ENST00000627543Q05193
ENSG00000106976ENST00000628346A0A0D9SFE4
ENSG00000106976ENST00000634267A0A0U1RQP1
ENSG00000106976ENST00000636201A0A1B0GVK6
ENSG00000106976ENST00000636280A0A1B0GUX5
ENSG00000106976ENST00000637999A0A1B0GU67

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Retrograde neurotrophin signallingREACTOMER-HSA-177504
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction degradationREACTOMER-HSA-190873
Formation of annular gap junctionsREACTOMER-HSA-196025
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Recycling pathway of L1REACTOMER-HSA-437239
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
252626512014De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.141
219270002011Crystal structure of nucleotide-free dynamin.126
204281132010G domain dimerization controls dynamin's assembly-stimulated GTPase activity.123
219625172011A pseudoatomic model of the dynamin polymer identifies a hydrolysis-dependent powerstroke.91
117825452002Dynamin at actin tails.88
171707012007The dynamin middle domain is critical for tetramerization and higher-order self-assembly.79
267955932016Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.77
164322122006Nitric oxide regulates endocytosis by S-nitrosylation of dynamin.76
214601822011A new role for the dynamin GTPase in the regulation of fusion pore expansion.57
166224172006The phox homology domain of phospholipase D activates dynamin GTPase activity and accelerates EGFR endocytosis.54

Citation

Dessen P

DNM1 (dynamin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40346/dnm1-(dynamin-1)