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dynamin 1

Summary

Gene Symbol

DNM1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1759

HGNC

2972

KEGG Gene ID

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
Proteomics identification
Reference proteome
Synapse

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A994J7J4	Dynamin I
B7ZAC0	Dynamin I
Q05193	Dynamin Dynamin I
B4DK06	Dynamin I

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
endosome organization	IMP
synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
protein homooligomerization	IDA
protein homotetramerization	IDA
regulation of vesicle size	ISS

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport [inference]

endocytosis

receptor-mediated endocytosis

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

import into cell [inference]

endocytosis

receptor-mediated endocytosis

biological regulation [inference]

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of cellular component size [inference]

regulation of vesicle size

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
cytoplasm	IBA
microtubule	IBA
plasma membrane	EXP
plasma membrane	TAS
plasma membrane	IBA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytoplasm

membrane

cell junction [inference]

synapse

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

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

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

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 16 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA
GTPase activity	EXP
GTPase activity	TAS
GTPase activity	IDA
GTPase activity	IBA

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]

nucleic acid binding [inference]

RNA binding

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 phosphate binding [inference]

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

phosphatidylinositol bisphosphate binding [inference]

phosphatidylinositol-4,5-bisphosphate binding

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]

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

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

Gene Ontology information from NCBI Gene and UniProt.

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 2** entries
DO ID	Disease Name	Source
DOID:0080437	developmental and epileptic encephalopathy 31A	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 96 in total

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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
OMIM:620352	developmental and epileptic encephalopathy 31B
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: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

Displaying **all 3** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	13429	MGI:107384
Saccharomyces cerevisiae S288C	853870	SGD:S000001709
Rattus norvegicus	140694	RGD:71096

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

PubChem Disease

International Collaboration

Acknowledgements