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dynamin 1

Summary

Gene Symbol

DNM1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1759

HGNC

2972

PubChem

1759

Alliance of Genome Resources

HGNC:2972

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

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
receptor-mediated endocytosis	IDA IMP	10074457 10521508 8101525
endosome organization	IMP	19706678
protein homotetramerization	IDA	9362482
synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
modulation of chemical synaptic transmission	IEA

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport [inference]

endocytosis

receptor-mediated endocytosis

receptor internalization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vesicle organization [inference]

vesicle budding from membrane [inference]

synaptic vesicle budding [inference]

synaptic vesicle budding from presynaptic endocytic zone membrane

endosome organization

cellular component assembly [inference]

protein-containing complex assembly [inference]

clathrin coat assembly [inference]

clathrin coat assembly involved in endocytosis

protein complex oligomerization [inference]

protein homooligomerization

protein homotetramerization

protein tetramerization [inference]

protein homotetramerization

regulation of cellular component size [inference]

regulation of vesicle size

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

clathrin coat assembly [inference]

clathrin coat assembly involved in endocytosis

protein complex oligomerization [inference]

protein homooligomerization

protein homotetramerization

protein tetramerization [inference]

protein homotetramerization

membrane organization [inference]

vesicle budding from membrane [inference]

synaptic vesicle budding [inference]

synaptic vesicle budding from presynaptic endocytic zone membrane

membrane fission [inference]

vesicle scission

localization [inference]

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

endocytosis

receptor-mediated endocytosis

receptor internalization

import into cell [inference]

endocytosis

receptor-mediated endocytosis

receptor internalization

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of cellular component size [inference]

regulation of vesicle size

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GO Term	Evidence Code	PMID
presynapse	ISS
membrane coat	IEA
glutamatergic synapse	IEA
cytoplasm	IBA
synapse	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

membrane coat

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

plasma membrane region [inference]

clathrin-coated pit

synaptic membrane [inference]

presynaptic endocytic zone membrane

cell junction [inference]

synapse

ribbon synapse [inference]

photoreceptor ribbon synapse

glutamatergic synapse

cell projection

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endocytic vesicle

secretory vesicle [inference]

secretory granule [inference]

chromaffin granule

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endocytic vesicle

secretory vesicle [inference]

secretory granule [inference]

chromaffin granule

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endocytic vesicle

secretory vesicle [inference]

secretory granule [inference]

chromaffin granule

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

presynapse

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
GDP binding	ISS
protein kinase binding	ISS
GTPase activity	IBA IDA	20428113
RNA binding	HDA	22681889
phosphatidylinositol-3,4,5-trisphosphate binding	IDA	9765310

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

GTPase activity

binding [inference]

protein binding

cytoskeletal protein binding [inference]

tubulin binding [inference]

microtubule binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

lipid binding [inference]

phospholipid binding [inference]

phosphatidylinositol binding [inference]

phosphatidylinositol phosphate binding [inference]

phosphatidylinositol-3,4,5-trisphosphate binding

phosphatidylinositol bisphosphate binding [inference]

phosphatidylinositol-4,5-bisphosphate binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Dynamin

Functional Category

D: Cell cycle control, cell division, chromosome partitioning
K: Transcription
L: Replication, recombination and repair

Displaying **all 4** entries
Gene Ontology
GTP binding
microtubule binding
nucleotide binding
receptor internalization

Displaying **all 5** entries
InterPro
Dynamin, GTPase domain
Dynamin, N-terminal
Dynamin-type guanine nucleotide-binding (G) domain
Dynamin
P-loop containing nucleoside triphosphate hydrolase

Human Protein Atlas

ENSG00000106976

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Rhea

RHEA:19669

H₂O + GTP

H⁺ + phosphate + GDP

Enzyme

PMID

Disease

Disease Ontology

Displaying **all 10** entries
DO ID	Disease Name	Source
DOID:0070376	developmental and epileptic encephalopathy 31B	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	Alliance of Genome Resources
DOID:10652	Alzheimer's disease	Alliance of Genome Resources
DOID:11252	microcytic anemia	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia	Alliance of Genome Resources
DOID:854	collagen disease	Alliance of Genome Resources

The Human Phenotype Ontology

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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
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
OMIM:620352	developmental and epileptic encephalopathy 31B
OMIM:616346	developmental and epileptic encephalopathy, 31

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Early infantile epileptic encephalopathy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	13429	MGI:107384	MOUSE34155
Drosophila melanogaster	45928	FB:FBgn0003392
Rattus norvegicus	140694	RGD:71096	RATNO27908
Xenopus tropicalis	448130	Xenbase:XB-GENE-986845
Canis lupus familiaris	491319		CANLF19406
Bos taurus	508794		BOVIN03218
Felis catus	654421		FELCA30659
Macaca mulatta	717697		MACMU12812
Saccharomyces cerevisiae S288C	853870	SGD:S000001709
Monodelphis domestica	100012623		MONDO07577

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements