Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
DEE31,DNM,EIEE31
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1759
MIM: 602377
HGNC: 2972
Ensembl: ENSG00000106976
Variants:
dbSNP: 1759
ClinVar: 1759
TCGA: ENSG00000106976
COSMIC: DNM1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34172529 | 2022 | Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. | 3 |
| 36413998 | 2022 | A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. | 8 |
| 34172529 | 2022 | Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. | 3 |
| 36413998 | 2022 | A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. | 8 |
| 34274446 | 2021 | Dynamin regulates L cell secretion in human gut. | 1 |
| 34518553 | 2021 | CryoEM structure of the super-constricted two-start dynamin 1 filament. | 5 |
| 34274446 | 2021 | Dynamin regulates L cell secretion in human gut. | 1 |
| 34518553 | 2021 | CryoEM structure of the super-constricted two-start dynamin 1 filament. | 5 |
| 29357276 | 2018 | Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis. | 26 |
| 29397573 | 2018 | Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. | 12 |
| 29800726 | 2018 | Cellular fluorescein hyperfluorescence is dynamin-dependent and increased by Tetronic 1107 treatment. | 7 |
| 30069048 | 2018 | Cryo-EM of the dynamin polymer assembled on lipid membrane. | 46 |
| 29357276 | 2018 | Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis. | 26 |
| 29397573 | 2018 | Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. | 12 |
| 29800726 | 2018 | Cellular fluorescein hyperfluorescence is dynamin-dependent and increased by Tetronic 1107 treatment. | 7 |
Citation
Dessen P
DNM1 (dynamin 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40346/dnm1
