dynamin 1

Summary
Gene Symbol
  • DNM1
Organism
Homo sapiens (human)
NCBI Gene
1759
HGNC
2972
PubChem
1759
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Cell projection
  • Coated pit
  • Cytoplasmic vesicle
  • Disease variant
  • Endocytosis
  • Epilepsy
  • GTP-binding
  • Hydrolase
  • Methylation
  • Microtubule
  • Motor protein
  • Nitration
  • Phosphoprotein
  • Reference proteome
  • Synapse
Proteins
Displaying all 3 entries
UniProt Protein Name
B4DK06
Q05193
  • Dynamin
  • Dynamin I
B7ZAC0
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 16 in total
GO Term Evidence Code PMID
photoreceptor inner segment
cytoplasm
microtubule
plasma membrane
plasma membrane
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
dynamin-1
Functional Category
  • D: Cell cycle control, cell division, chromosome partitioning
  • K: Transcription
  • L: Replication, recombination and repair
Human Protein Atlas
ENSG00000106976

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0070376 developmental and epileptic encephalopathy 31B
DOID:0080437 developmental and epileptic encephalopathy 31A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 96 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000212 Gingival overgrowth
HP:0000252 Microcephaly
HP:0000283 Broad face
HP:0000341 Narrow forehead
HP:0000348 High forehead
HP:0000369 Low-set ears
HP:0000494 Downslanted palpebral fissures
HP:0000504 Abnormality of vision
Displaying all 4 entries
Disease ID Disease Name
OMIM:620352
  • developmental and epileptic encephalopathy 31B
OMIM:616346
  • developmental and epileptic encephalopathy, 31
ORPHA:2382
  • Lennox-Gastaut syndrome
ORPHA:442835
  • developmental and epileptic encephalopathy, 58
  • developmental delay and seizures with or without movement abnormalities
  • intellectual disability, X-linked, syndromic, Houge type
  • intellectual disability, autosomal dominant 55, with seizures
  • intellectual disability, autosomal dominant 56
  • undetermined early-onset epileptic encephalopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025