Human Gene DNM3 (ENST00000367733.6) Description and Page Index
  Description: Homo sapiens dynamin 3 (DNM3), transcript variant 5, mRNA. (from RefSeq NM_001350205)
RefSeq Summary (NM_001278252): This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].
Gencode Transcript: ENST00000367733.6
Gencode Gene: ENSG00000197959.14
Transcript (Including UTRs)
   Position: hg38 chr1:171,841,498-172,133,392 Size: 291,895 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr1:171,841,657-172,132,897 Size: 291,241 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:171,841,498-172,133,392)mRNA (may differ from genome)Protein (555 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: DYN3_HUMAN
DESCRIPTION: RecName: Full=Dynamin-3; EC=3.6.5.5; AltName: Full=Dynamin, testicular; AltName: Full=T-dynamin;
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, in particular endocytosis (By similarity).
CATALYTIC ACTIVITY: GTP + H(2)O = GDP + phosphate.
SUBCELLULAR LOCATION: Cytoplasm (Potential). Cytoplasm, cytoskeleton (Potential). Note=Microtubule-associated (Potential).
SIMILARITY: Belongs to the dynamin family.
SIMILARITY: Contains 1 GED domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAA74843.2; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: DNM3
Diseases sorted by gene-association score: optic atrophy 1 (10)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.34 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 170.38 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.70159-0.514 Picture PostScript Text
3' UTR -139.20495-0.281 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:
PF01031 - Dynamin central region
PF00350 - Dynamin family
PF02212 - Dynamin GTPase effector domain
PF00169 - PH domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3L43
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UQ16
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008017 microtubule binding
GO:0016787 hydrolase activity
GO:0031798 type 1 metabotropic glutamate receptor binding
GO:0031802 type 5 metabotropic glutamate receptor binding
GO:0042802 identical protein binding
GO:0050998 nitric-oxide synthase binding

Biological Process:
GO:0000266 mitochondrial fission
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission
GO:0006897 endocytosis
GO:0007416 synapse assembly
GO:0016185 synaptic vesicle budding from presynaptic endocytic zone membrane
GO:0046847 filopodium assembly
GO:0051491 positive regulation of filopodium assembly
GO:0061001 regulation of dendritic spine morphogenesis
GO:0061002 negative regulation of dendritic spine morphogenesis
GO:0061025 membrane fusion
GO:0098884 postsynaptic neurotransmitter receptor internalization
GO:1903423 positive regulation of synaptic vesicle recycling

Cellular Component:
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0014069 postsynaptic density
GO:0030424 axon
GO:0031966 mitochondrial membrane
GO:0043083 synaptic cleft
GO:0043197 dendritic spine
GO:0044327 dendritic spine head
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0098844 postsynaptic endocytic zone membrane


-  Descriptions from all associated GenBank mRNAs
  AK056279 - Homo sapiens cDNA FLJ31717 fis, clone NT2RI2006640, highly similar to Dynamin-3 (EC 3.6.5.5).
AL136712 - Homo sapiens mRNA; cDNA DKFZp566K013 (from clone DKFZp566K013).
AB020627 - Homo sapiens KIAA0820 mRNA for KIAA0820 protein.
AK308992 - Homo sapiens cDNA, FLJ99033.
AK307806 - Homo sapiens cDNA, FLJ97754.
BC064546 - Homo sapiens dynamin 3, mRNA (cDNA clone MGC:70433 IMAGE:5744324), complete cds.
KJ902410 - Synthetic construct Homo sapiens clone ccsbBroadEn_11804 DNM3 gene, encodes complete protein.
AB385386 - Synthetic construct DNA, clone: pF1KA0820, Homo sapiens DNM3 gene for dynamin-3, complete cds, without stop codon, in Flexi system.
AM393667 - Synthetic construct Homo sapiens clone IMAGE:100001758 for hypothetical protein (DNM3 gene).
AM393846 - Synthetic construct Homo sapiens clone IMAGE:100001748 for hypothetical protein (DNM3 gene).
JD186815 - Sequence 167839 from Patent EP1572962.
JD406985 - Sequence 388009 from Patent EP1572962.
JD161094 - Sequence 142118 from Patent EP1572962.
JD142860 - Sequence 123884 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04666 - Fc gamma R-mediated phagocytosis
hsa05100 - Bacterial invasion of epithelial cells

Reactome (by CSHL, EBI, and GO)

Protein Q9UQ16 (Reactome details) participates in the following event(s):

R-HSA-2130641 Translocation of TGN-lysosome vesicle to lysosome
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-2132295 MHC class II antigen presentation
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-437239 Recycling pathway of L1
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-1280218 Adaptive Immune System
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-373760 L1CAM interactions
R-HSA-199991 Membrane Trafficking
R-HSA-168256 Immune System
R-HSA-166520 Signaling by NTRKs
R-HSA-422475 Axon guidance
R-HSA-5653656 Vesicle-mediated transport
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1Y1, DYN3_HUMAN, KIAA0820, NM_001350205, O14982, O95555, Q1MTM8, Q5W129, Q9H0P3, Q9H548, Q9NQ68, Q9NQN6, Q9UQ16, uc001gid.1, uc001gid.2, uc001gid.3, uc001gid.4, uc001gid.5, uc001gid.6
UCSC ID: uc001gid.6
RefSeq Accession: NM_001278252
Protein: Q9UQ16 (aka DYN3_HUMAN)
CCDS: CCDS60356.1

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