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Aliases for DNM1 Gene

Aliases for DNM1 Gene

  • Dynamin 1 2 3 5
  • EC 3.6.5.5 4 63
  • DNM 3 4
  • EIEE31 3

External Ids for DNM1 Gene

Previous HGNC Symbols for DNM1 Gene

  • DNM

Previous GeneCards Identifiers for DNM1 Gene

  • GC09P122080
  • GC09P122612
  • GC09P124419
  • GC09P126342
  • GC09P126343
  • GC09P128045
  • GC09P130005
  • GC09P130965
  • GC09P100579

Summaries for DNM1 Gene

Entrez Gene Summary for DNM1 Gene

  • This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNM1 Gene

DNM1 (Dynamin 1) is a Protein Coding gene. Diseases associated with DNM1 include Epileptic Encephalopathy, Early Infantile, 31 and Lennox-Gastaut Syndrome. Among its related pathways are Bacterial invasion of epithelial cells and Synaptic vesicle cycle. GO annotations related to this gene include poly(A) RNA binding and GTP binding. An important paralog of this gene is MX1.

UniProtKB/Swiss-Prot for DNM1 Gene

  • Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.

Tocris Summary for DNM1 Gene

  • GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.

Gene Wiki entry for DNM1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNM1 Gene

Genomics for DNM1 Gene

Regulatory Elements for DNM1 Gene

Enhancers for DNM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNM1 on UCSC Golden Path with GeneCards custom track

Promoters for DNM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNM1 Gene

Chromosome:
9
Start:
128,203,352 bp from pter
End:
128,255,249 bp from pter
Size:
51,898 bases
Orientation:
Plus strand

Genomic View for DNM1 Gene

Genes around DNM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNM1 Gene

Proteins for DNM1 Gene

  • Protein details for DNM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05193-DYN1_HUMAN
    Recommended name:
    Dynamin-1
    Protein Accession:
    Q05193
    Secondary Accessions:
    • A6NLM6
    • Q5SYX0
    • Q5SYX2
    • Q6P3T6
    • Q86VD2

    Protein attributes for DNM1 Gene

    Size:
    864 amino acids
    Molecular mass:
    97408 Da
    Quaternary structure:
    • Interacts with CAV1 and SH3GLB1. Binds SH3GL1, SH3GL2 and SH3GL3 (By similarity). Interacts with PHOCN. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity). Interacts with SNX9. Interacts with MYO1E (via SH3 domain). Interacts with SNX33 (via SH3 domain). Interacts with UNC119; leading to a decrease of DNM1 GTPase activity (By similarity). Interacts with DIAPH1 (PubMed:23325789).
    SequenceCaution:
    • Sequence=AAA02805.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNM1 Gene

    Alternative splice isoforms for DNM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM1 Gene

Proteomics data for DNM1 Gene at MOPED

Post-translational modifications for DNM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DNM1 Gene

Gene Families for DNM1 Gene

Suggested Antigen Peptide Sequences for DNM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q05193

UniProtKB/Swiss-Prot:

DYN1_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 GED domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with DNM1: view

Function for DNM1 Gene

Molecular function for DNM1 Gene

GENATLAS Biochemistry:
dynamin 1,100kDa,GTP binding protein,expressed in the brain,involved in early stage of clathrin-mediated endocytosis and formation of synaptic vesicles
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
UniProtKB/Swiss-Prot Function:
Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.

Enzyme Numbers (IUBMB) for DNM1 Gene

Gene Ontology (GO) - Molecular Function for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031749 D2 dopamine receptor binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with DNM1: view
genes like me logo Genes that share phenotypes with DNM1: view

Human Phenotype Ontology for DNM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNM1 Gene

MGI Knock Outs for DNM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DNM1

miRNA for DNM1 Gene

miRTarBase miRNAs that target DNM1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DNM1 Gene

Localization for DNM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNM1 Gene COMPARTMENTS Subcellular localization image for DNM1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 4
cytosol 3
golgi apparatus 3
endosome 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030117 membrane coat IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with DNM1: view

Pathways & Interactions for DNM1 Gene

genes like me logo Genes that share pathways with DNM1: view

SIGNOR curated interactions for DNM1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IMP 10521508
GO:0007411 axon guidance TAS --
GO:0051262 protein tetramerization IEA --
genes like me logo Genes that share ontologies with DNM1: view

Drugs & Compounds for DNM1 Gene

(4) Drugs for DNM1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Mdivi 1 Pharma Selective DRP1/Dnm1 inhibitor, cell-permeable 0

(12) Additional Compounds for DNM1 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
8-CPT-2Me-cAMP, sodium salt
634207-53-7
8-pCPT-2-O-Me-cAMP-AM
1152197-23-3

(5) Tocris Compounds for DNM1 Gene

Compound Action Cas Number
8-CPT-2Me-cAMP, sodium salt Selective Epac activator 634207-53-7
8-pCPT-2-O-Me-cAMP-AM Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) 1152197-23-3
Dynamin inhibitory peptide Dynamin inhibitor 251634-21-6
Dynamin inhibitory peptide, myristoylated Cell-permeable dynamin inhibitor 251634-22-7
Dynamin inhibitory peptide, myristoylated (control) Control peptide version of dynamin inhibitory peptide, myristoylated (Cat. No. 1775)

(1) ApexBio Compounds for DNM1 Gene

Compound Action Cas Number
Mdivi 1 Selective DRP1/Dnm1 inhibitor, cell-permeable 338967-87-6
genes like me logo Genes that share compounds with DNM1: view

Drug Products

Transcripts for DNM1 Gene

Unigene Clusters for DNM1 Gene

Dynamin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNM1 Gene

No ASD Table

Relevant External Links for DNM1 Gene

GeneLoc Exon Structure for
DNM1
ECgene alternative splicing isoforms for
DNM1

Expression for DNM1 Gene

mRNA expression in normal human tissues for DNM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNM1 Gene

This gene is overexpressed in Brain - Cortex (x7.9), Brain - Frontal Cortex (BA9) (x6.9), Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Cerebellar Hemisphere (x4.9), and Brain - Cerebellum (x4.9).

Protein differential expression in normal tissues from HIPED for DNM1 Gene

This gene is overexpressed in Brain (37.6) and Frontal cortex (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNM1 Gene



SOURCE GeneReport for Unigene cluster for DNM1 Gene Hs.522413

genes like me logo Genes that share expression patterns with DNM1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNM1 Gene

Orthologs for DNM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNM1 35
  • 93.43 (n)
  • 99.3 (a)
DNM1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNM1 35
  • 92.25 (n)
  • 97.79 (a)
DNM1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnm1 35
  • 90.94 (n)
  • 97.64 (a)
Dnm1 16
Dnm1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNM1 35
  • 98.07 (n)
  • 98.26 (a)
DNM1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnm1 35
  • 92.5 (n)
  • 99.53 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DNM1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNM1 35
  • 82.45 (n)
  • 93.63 (a)
-- 36
  • 96 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii dnm1b 35
  • 76.64 (n)
  • 87.38 (a)
dnm1a 36
  • 90 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta shi 37
  • 68 (a)
shi 35
  • 65.89 (n)
  • 71.43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003018 35
  • 66.06 (n)
  • 70.91 (a)
worm
(Caenorhabditis elegans)
Secernentea dyn-1 37
  • 67 (a)
dyn-1 35
  • 62.44 (n)
  • 66.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGM1 38
barley
(Hordeum vulgare)
Liliopsida Hv.13156 35
rice
(Oryza sativa)
Liliopsida Os.19079 35
Species with no ortholog for DNM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DNM1 Gene

ENSEMBL:
Gene Tree for DNM1 (if available)
TreeFam:
Gene Tree for DNM1 (if available)

Paralogs for DNM1 Gene

Paralogs for DNM1 Gene

(5) SIMAP similar genes for DNM1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DNM1: view

Variants for DNM1 Gene

Sequence variations from dbSNP and Humsavar for DNM1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1042007 - 128,250,268(+) TCGGC(A/G)ACATC nc-transcript-variant, reference, missense
VAR_073710 Epileptic encephalopathy, early infantile, 31 (EIEE31)
VAR_073711 Epileptic encephalopathy, early infantile, 31 (EIEE31)
VAR_073712 Epileptic encephalopathy, early infantile, 31 (EIEE31)
VAR_073713 Epileptic encephalopathy, early infantile, 31 (EIEE31)

Structural Variations from Database of Genomic Variants (DGV) for DNM1 Gene

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv893891 CNV Loss 21882294
dgv8294n71 CNV Loss 21882294
nsv893896 CNV Loss 21882294
nsv831728 CNV Loss 17160897

Variation tolerance for DNM1 Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNM1 Gene

Human Gene Mutation Database (HGMD)
DNM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM1 Gene

Disorders for DNM1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNM1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 31
  • eiee31
lennox-gastaut syndrome
  • lennox syndrome
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
neuronal intranuclear inclusion disease
  • neuronal intranuclear hyaline inclusion disease
mediastinitis
- elite association - COSMIC cancer census association via MalaCards
Search DNM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYN1_HUMAN
  • Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:25262651, ECO:0000269 PubMed:25533962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNM1

Genetic Association Database (GAD)
DNM1
Human Genome Epidemiology (HuGE) Navigator
DNM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNM1
genes like me logo Genes that share disorders with DNM1: view

No data available for Genatlas for DNM1 Gene

Publications for DNM1 Gene

  1. Assignment of the dynamin-1 gene (DNM1) to human chromosome 9q34 by fluorescence in situ hybridization and somatic cell hybrid analysis. (PMID: 9143509) Newman-Smith E.D. … van der Bliek A.M. (Genomics 1997) 2 3 23 67
  2. Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans. (PMID: 18987626) Xu Q. … Li M.D. (Neuropsychopharmacology 2009) 3 23
  3. A possible effector role for the pleckstrin homology (PH) domain of dynamin. (PMID: 19666604) Bethoney K.A. … Lemmon M.A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis. (PMID: 19706678) Bel C. … Faivre-Sarrailh C. (J. Cell. Sci. 2009) 3 23
  5. Membrane insertion of the pleckstrin homology domain variable loop 1 is critical for dynamin-catalyzed vesicle scission. (PMID: 19776347) Ramachandran R. … Schmid S.L. (Mol. Biol. Cell 2009) 3 23

Products for DNM1 Gene

  • Addgene plasmids for DNM1

Sources for DNM1 Gene

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