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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]
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 Integrin Pathway and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is DNM3.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0003924 | GTPase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10206341 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001917 | photoreceptor inner segment | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gap junction trafficking | ||
2 | Endocytic Trafficking of EGFR |
Endocytic Trafficking of EGFR
.41
|
|
3 | EPH-Ephrin signaling | ||
4 | Synaptic vesicle cycle | ||
5 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000266 | mitochondrial fission | IBA | 21873635 |
GO:0002031 | G protein-coupled receptor internalization | IEA | -- |
GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | IBA | 21873635 |
GO:0006897 | endocytosis | TAS | 16648839 |
GO:0006898 | receptor-mediated endocytosis | IMP | 10521508 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Guanosine diphosphate | Experimental | Pharma | 0 | |||
Guanosine triphosphate | Experimental | Pharma | 0 | |||
Salirasib | Investigational | Pharma | Inhibitor of active Ras protein, Ras inhibitor; also induces autophagy | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
|||
ESI 09 |
|
263707-16-0 |
|
|
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 |
ESI 09 | EPAC inhibitor | 263707-16-0 |
Salirasib | Ras inhibitor; also induces autophagy | 162520-00-5 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNM1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Rat (Rattus norvegicus) |
Mammalia | Dnm1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DNM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dnm1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
DNM1 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | dnm1a 31 |
|
ManyToMany | |
dnm1b 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003018 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | shi 30 32 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dyn-1 30 32 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MGM1 33 |
|
|
|
Barley (Hordeum vulgare) |
Liliopsida | Hv.13156 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.19079 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641490 | Uncertain Significance: Epileptic encephalopathy, early infantile, 31 | 128,250,197(+) | A/G | MISSENSE_VARIANT | |
646235 | Uncertain Significance: Epileptic encephalopathy, early infantile, 31 | 128,224,369(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
647582 | Uncertain Significance: Epileptic encephalopathy, early infantile, 31 | 128,224,300(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
649733 | Uncertain Significance: Epileptic encephalopathy, early infantile, 31 | 128,247,403(+) | G/A | MISSENSE_VARIANT | |
649956 | Uncertain Significance: Epileptic encephalopathy, early infantile, 31 | 128,220,187(+) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 31 |
|
|
lennox-gastaut syndrome |
|
|
aceruloplasminemia |
|
|
undetermined early-onset epileptic encephalopathy |
|
|
visual epilepsy |
|
|