Human Gene DNM1 (ENST00000372923.8_8) from GENCODE V47lift37
  Description: dynamin 1, transcript variant 1 (from RefSeq NM_004408.4)
Gencode Transcript: ENST00000372923.8_8
Gencode Gene: ENSG00000106976.22_15
Transcript (Including UTRs)
   Position: hg19 chr9:130,965,658-131,017,523 Size: 51,866 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr9:130,965,750-131,016,993 Size: 51,244 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:130,965,658-131,017,523)mRNA (may differ from genome)Protein (864 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DYN1_HUMAN
DESCRIPTION: RecName: Full=Dynamin-1; EC=3.6.5.5;
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.
CATALYTIC ACTIVITY: GTP + H(2)O = GDP + phosphate.
SUBUNIT: Interacts with CAV1 and SH3GLB1. Binds SH3GL1, SH3GL2 and SH3GL3 (By similarity). Interacts with PHOCN (By similarity). Interacts with SNX9. Interacts with MYO1E (via SH3 domain).
INTERACTION: Self; NbExp=5; IntAct=EBI-713135, EBI-713135; Q96RU3:FNBP1; NbExp=5; IntAct=EBI-713135, EBI-1111248; P62993:GRB2; NbExp=3; IntAct=EBI-713135, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-713135, EBI-389883;
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated.
SIMILARITY: Belongs to the dynamin family.
SIMILARITY: Contains 1 GED domain.
SIMILARITY: Contains 1 PH domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNM1
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 31* (1330), lennox-gastaut syndrome* (212), undetermined early-onset epileptic encephalopathy* (90), mediastinitis (9), epiglottitis (8), yunis-varon syndrome (7), neuronal intranuclear inclusion disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 219.79 RPKM in Brain - Cortex
Total median expression: 1612.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.6092-0.517 Picture PostScript Text
3' UTR -147.60530-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022812 - Dynamin
IPR000375 - Dynamin_central
IPR001401 - Dynamin_GTPase
IPR019762 - Dynamin_GTPase_CS
IPR003130 - GED
IPR020850 - GTPase_effector_domain_GED
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF00350 - Dynamin family
PF01031 - Dynamin central region
PF02212 - Dynamin GTPase effector domain

SCOP Domains:
100934 - Heat shock protein 70kD (HSP70), C-terminal subdomain
50729 - PH domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DYN - X-ray MuPIT 2DYN - X-ray MuPIT 2X2E - X-ray MuPIT 2X2F - X-ray MuPIT 3SNH - X-ray MuPIT 3ZYC - X-ray MuPIT 3ZYS - EM MuPIT


ModBase Predicted Comparative 3D Structure on Q05193
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008017 microtubule binding
GO:0008022 protein C-terminus binding
GO:0016787 hydrolase activity
GO:0017124 SH3 domain binding
GO:0019901 protein kinase binding
GO:0031749 D2 dopamine receptor binding
GO:0042802 identical protein binding
GO:0044877 macromolecular complex binding
GO:0046983 protein dimerization activity
GO:0050998 nitric-oxide synthase binding

Biological Process:
GO:0000266 mitochondrial fission
GO:0002031 G-protein coupled receptor internalization
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission
GO:0006897 endocytosis
GO:0006898 receptor-mediated endocytosis
GO:0007032 endosome organization
GO:0007605 sensory perception of sound
GO:0008344 adult locomotory behavior
GO:0016185 synaptic vesicle budding from presynaptic endocytic zone membrane
GO:0031623 receptor internalization
GO:0048013 ephrin receptor signaling pathway
GO:0051262 protein tetramerization
GO:0051932 synaptic transmission, GABAergic
GO:0061025 membrane fusion
GO:0072583 clathrin-dependent endocytosis
GO:1900242 regulation of synaptic vesicle endocytosis
GO:1900244 positive regulation of synaptic vesicle endocytosis
GO:1901998 toxin transport
GO:1903423 positive regulation of synaptic vesicle recycling
GO:1904645 response to beta-amyloid

Cellular Component:
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0030117 membrane coat
GO:0031966 mitochondrial membrane
GO:0032991 macromolecular complex
GO:0043196 varicosity
GO:0043209 myelin sheath
GO:0045202 synapse
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK316235 - Homo sapiens cDNA, FLJ79134 complete cds, highly similar to Dynamin-1 (EC 3.6.5.5).
AK295101 - Homo sapiens cDNA FLJ53472 complete cds, highly similar to Dynamin-1 (EC 3.6.5.5).
BC050279 - Homo sapiens dynamin 1, mRNA (cDNA clone MGC:33790 IMAGE:5284480), complete cds.
AK296326 - Homo sapiens cDNA FLJ60610 complete cds, highly similar to Dynamin-1 (EC 3.6.5.5).
L07807 - Human dynamin mRNA, alternative exons and complete cds.
BC063850 - Homo sapiens dynamin 1, mRNA (cDNA clone MGC:75115 IMAGE:6184100), complete cds.
AK225179 - Homo sapiens mRNA for dynamin 1 isoform 1 variant, clone: CBR09134.
KJ896712 - Synthetic construct Homo sapiens clone ccsbBroadEn_06106 DNM1 gene, encodes complete protein.
AB209124 - Homo sapiens mRNA for dynamin 1 isoform 2 variant protein.
AK308793 - Homo sapiens cDNA, FLJ98834.
L07808 - Human dynamin mRNA, alternative exon and partial cds.
AK096629 - Homo sapiens cDNA FLJ39310 fis, clone OCBBF2013324, highly similar to Dynamin-1 (EC 3.6.5.5).
DQ596303 - Homo sapiens piRNA piR-34369, complete sequence.
DQ582610 - Homo sapiens piRNA piR-32722, complete sequence.
DQ596047 - Homo sapiens piRNA piR-34113, complete sequence.
DQ570142 - Homo sapiens piRNA piR-30254, complete sequence.
L07809 - Human dynamin mRNA, alternative exon and 3' end of cds.
L07810 - Human dynamin mRNA, alternative exon and 3' end of cds.
DQ573498 - Homo sapiens piRNA piR-41610, complete sequence.
AK127038 - Homo sapiens cDNA FLJ45094 fis, clone BRAWH3030810.
AF035321 - Homo sapiens clone 23944 mRNA sequence.
JD264744 - Sequence 245768 from Patent EP1572962.
JD417394 - Sequence 398418 from Patent EP1572962.
JD254470 - Sequence 235494 from Patent EP1572962.
JD152050 - Sequence 133074 from Patent EP1572962.
JD416916 - Sequence 397940 from Patent EP1572962.
JD416917 - Sequence 397941 from Patent EP1572962.
JD380743 - Sequence 361767 from Patent EP1572962.
JD162162 - Sequence 143186 from Patent EP1572962.
JD387378 - Sequence 368402 from Patent EP1572962.
JD428128 - Sequence 409152 from Patent EP1572962.
JD336647 - Sequence 317671 from Patent EP1572962.
DQ574015 - Homo sapiens piRNA piR-42127, complete sequence.
JD282536 - Sequence 263560 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_bArrestin-srcPathway - Roles of ¿-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling
h_barr-mapkPathway - Role of ¿-arrestins in the activation and targeting of MAP kinases
h_ndkDynaminPathway - Endocytotic role of NDK, Phosphins and Dynamin
h_bArrestinPathway - ¿-arrestins in GPCR Desensitization

Reactome (by CSHL, EBI, and GO)

Protein Q05193 (Reactome details) participates in the following event(s):

R-HSA-196017 Dynamin is recruited to the gap junction plaque
R-HSA-2130641 Translocation of TGN-lysosome vesicle to lysosome
R-HSA-190519 Internalization of gap junction plaques
R-HSA-177501 Endocytosis (internalization) of clathrin-coated vesicle
R-HSA-555065 Formation of clathrin coated vesicle
R-HSA-8951498 Dissociation of Arf1:GDP, AP-1 Clathrin coated nonameric complex
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-196025 Formation of annular gap junctions
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-2132295 MHC class II antigen presentation
R-HSA-190873 Gap junction degradation
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-437239 Recycling pathway of L1
R-HSA-422475 Axon guidance
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-1280218 Adaptive Immune System
R-HSA-190828 Gap junction trafficking
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-373760 L1CAM interactions
R-HSA-1266738 Developmental Biology
R-HSA-199991 Membrane Trafficking
R-HSA-168256 Immune System
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-166520 Signaling by NTRKs
R-HSA-5653656 Vesicle-mediated transport
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLM6, DNM, DNM1 , DYN1_HUMAN, ENST00000372923.1, ENST00000372923.2, ENST00000372923.3, ENST00000372923.4, ENST00000372923.5, ENST00000372923.6, ENST00000372923.7, NM_004408, Q05193, Q5SYX0, Q5SYX2, Q6P3T6, Q86VD2, uc318kig.1, uc318kig.2
UCSC ID: ENST00000372923.8_8
RefSeq Accession: NM_004408.4
Protein: Q05193 (aka DYN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.