DNM1 (dynamin 1)

2003-11-01 Affiliation

Identity

HGNC

DNM1

LOCATION

9q34.11

LOCUSID

1759

ALIAS

DEE31,DNM,EIEE31

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000106976	ENST00000341179	Q05193
ENSG00000106976	ENST00000372923	Q05193
ENSG00000106976	ENST00000393594	Q05193
ENSG00000106976	ENST00000475805	Q05193
ENSG00000106976	ENST00000482638	H7C5U0
ENSG00000106976	ENST00000486160	Q05193
ENSG00000106976	ENST00000625457	A0A0D9SFP1
ENSG00000106976	ENST00000627061	A0A0D9SFB1
ENSG00000106976	ENST00000627543	Q05193
ENSG00000106976	ENST00000628346	A0A0D9SFE4
ENSG00000106976	ENST00000634267	A0A0U1RQP1
ENSG00000106976	ENST00000636201	A0A1B0GVK6
ENSG00000106976	ENST00000636280	A0A1B0GUX5
ENSG00000106976	ENST00000637999	A0A1B0GU67

Expression (GTEx)

100

150

200

250

300

350

400

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Endocytosis	KEGG	ko04144
Endocytosis	KEGG	hsa04144
Bacterial invasion of epithelial cells	KEGG	ko05100
Bacterial invasion of epithelial cells	KEGG	hsa05100
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Signal Transduction	REACTOME	R-HSA-162582
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Retrograde neurotrophin signalling	REACTOME	R-HSA-177504
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Gap junction trafficking and regulation	REACTOME	R-HSA-157858
Gap junction trafficking	REACTOME	R-HSA-190828
Gap junction degradation	REACTOME	R-HSA-190873
Formation of annular gap junctions	REACTOME	R-HSA-196025
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
Recycling pathway of L1	REACTOME	R-HSA-437239
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPH-ephrin mediated repulsion of cells	REACTOME	R-HSA-3928665
Phospholipase D signaling pathway	KEGG	ko04072
Phospholipase D signaling pathway	KEGG	hsa04072
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/meetings/cancer-prone-explorer/favicon/apple-touch-icon.png