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    DNM1 dynamin 1 [ Homo sapiens ]

    Gene ID: 1759, updated on 19-May-2012

    Summary

    Official Symbol
    DNM1provided by HGNC
    Official Full Name
    dynamin 1provided by HGNC
    Primary source
    HGNC:2972
    See related
    Ensembl:ENSG00000106976; HPRD:03851; MIM:602377; Vega:OTTHUMG00000020733
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNM
    Summary
    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]

    Genomic context

    Location :
    9q34
    Sequence :
    Chromosome: 9; NC_000009.11 (130965663..131017527)
    See DNM1 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene lipocalin 2 Neighboring gene chromosome 9 open reading frame 16 Neighboring gene CDKN1A interacting zinc finger protein 1 Neighboring gene microRNA 199b Neighboring gene microRNA 3154 Neighboring gene golgin A2 Neighboring gene SWI5 recombination repair homolog (yeast)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q05193 P49418 AMPH    HPRD  PubMed  
    Q05193 O94973 AP2A2    HPRD  PubMed  
    Q05193 Q8WXK3 ASB13    HPRD  PubMed  
    Q05193 O00499 BIN1    HPRD  PubMed  
    Q05193 Q9Y6J0 CABIN1    HPRD  PubMed  
    Q05193 Q03135 CAV1    HPRD  PubMed  
    Q05193 Q00535 CDK5    HPRD  PubMed  
    Q05193 O95833 CLIC3    HPRD  PubMed  
    Q05193 Q9Y696 CLIC4    HPRD  PubMed  
    Q05193 Q14247 CTTN    HPRD  PubMed  
    Q05193 Q05193 DNM1    HPRD  PubMed  
    Q05193 Q6XZF7 DNMBP    HPRD  PubMed  
    Q05193 P42566 EPS15    HPRD  PubMed  
    Q05193 Q96RU3 FNBP1    HPRD  PubMed  
    Q05193 P63244 GNB2L1    HPRD  PubMed  
    Q05193 P62993 GRB2    HPRD  PubMed  
    Q05193 Q05586 GRIN1    HPRD  PubMed  
    Q05193 O15399 GRIN2D    HPRD  PubMed  
    Q05193 Q15811 ITSN1    HPRD  PubMed  
    Q05193 Q9P2H0 KIAA1377    HPRD  PubMed  
    Q05193 Q9Y3C7 MED31    HPRD  PubMed  
    Q05193 Q9Y3A3 MOB4    HPRD  PubMed  
    Q05193 P16333 NCK1    HPRD  PubMed  
    Q05193 O43639 NCK2    HPRD  PubMed  
    Q05193 P22392 NME2    HPRD  PubMed  
    Q05193 Q9BY11 PACSIN1    HPRD  PubMed  
    Q05193 Q9UKS6 PACSIN3    HPRD  PubMed  
    Q05193 P35080 PFN2    HPRD  PubMed  
    Q05193 O75925 PIAS1    HPRD  PubMed  
    Q05193 P27986 PIK3R1    HPRD  PubMed  
    Q05193 Q9Y237 PIN4    HPRD  PubMed  
    Q05193 P19174 PLCG1    HPRD  PubMed  
    Q05193 P17252 PRKCA    HPRD  PubMed  
    Q05193 P04156 PRNP    HPRD  PubMed  
    Q05193 Q99961 SH3GL1    HPRD  PubMed  
    Q05193 Q99962 SH3GL2    HPRD  PubMed  
    Q05193 Q99963 SH3GL3    HPRD  PubMed  
    Q05193 P60880 SNAP25    HPRD  PubMed  
    Q05193 Q9Y5X1 SNX9    HPRD  PubMed  
    Q05193 P12931 SRC    HPRD  PubMed  
    Q05193 Q3ZCQ8 TIMM50    HPRD  PubMed  
    BioGRID:108099 BioGRID:108791 ADAM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108099 BioGRID:106770 AMPH    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108099 BioGRID:122865 ASB13    BioGRID  PubMed Two-hybrid 
    BioGRID:108099 BioGRID:117070 CABIN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108099 BioGRID:115038 CLINT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:108099 DNM1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108099 BioGRID:108122 DNM2    BioGRID  PubMed Two-hybrid 
    BioGRID:108099 BioGRID:116869 DNMBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108099 BioGRID:108192 DYRK1A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:199489 Eps15    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:108532 FER    BioGRID  PubMed Co-fractionation 
    BioGRID:108099 BioGRID:116686 FNBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108099 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex 
    BioGRID:108099 BioGRID:121617 KIAA1377    BioGRID  PubMed Two-hybrid 
    BioGRID:108099 BioGRID:110440 MAP3K10    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:108099 BioGRID:110770 NCK1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108099 BioGRID:119018 PACSIN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108099 BioGRID:116413 PACSIN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:118896 PACSIN3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:111320 PIN4    BioGRID  PubMed Two-hybrid 
    BioGRID:108099 BioGRID:112352 SH3GL1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:112353 SH3GL2    BioGRID  PubMed Reconstituted Complex 
    NP_003018.2 SH3GL3    BIND  PubMed Endophilin A3 interacts with Dynamin. 
    BioGRID:108099 BioGRID:119289 SH3GLB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108099 BioGRID:119748 UBASH3A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108099 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • CXCR3-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CXCR3-mediated signaling events, organism-specific biosystem
      CXCR3-mediated signaling events
    • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CXCR4-mediated signaling events, organism-specific biosystem
      CXCR4-mediated signaling events
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
      EPHB forward signaling, organism-specific biosystem
      EPHB forward signaling
    • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Ephrin B reverse signaling, organism-specific biosystem (from Pathway Interaction Database)
      Ephrin B reverse signaling, organism-specific biosystem
      Ephrin B reverse signaling
    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Formation of annular gap junctions, organism-specific biosystem (from REACTOME)
      Formation of annular gap junctions, organism-specific biosystemGap junction plaque internalization and the disruption cell communication requires a reorganization of Cx molecular interactions. Proteins including Dab-2, AP-2, Dynamin and Myosin VI associate w...
    • Gap junction degradation, organism-specific biosystem (from REACTOME)
      Gap junction degradation, organism-specific biosystemThe half-life of Cx is very short (1 to 5h) compared to other junctional proteins (Laird et al., 1995 ; Fallon and Goudenough, 1981). Connexins are targeted for degradation by the proteasome and the...
    • Gap junction trafficking, organism-specific biosystem (from REACTOME)
      Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
    • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
      Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
    • IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
    • Internalization of ErbB1, organism-specific biosystem (from Pathway Interaction Database)
      Internalization of ErbB1, organism-specific biosystem
      Internalization of ErbB1
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
      Neurotrophic factor-mediated Trk receptor signaling
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Recycling pathway of L1, organism-specific biosystem (from REACTOME)
      Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
    • Retrograde neurotrophin signalling, organism-specific biosystem (from REACTOME)
      Retrograde neurotrophin signalling, organism-specific biosystemNeurotrophin-TRK complexes can be internalized and enter signalling vesicles, which travel retrogradely over long distances from distal nerve terminals to neuronal cell bodies. Such retrograde signal...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Thromboxane A2 receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Thromboxane A2 receptor signaling, organism-specific biosystem
      Thromboxane A2 receptor signaling

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    GTP catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dynamin-1
    Names
    dynamin-1
    NP_001005336.1
    NP_004399.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029726.1 RefSeqGene

      Range
      5001..56865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005336.1NP_001005336.1  dynamin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting isoform (2), also known as internal form 2 and the short C-terminal form, is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI660320, BC050279, BC063850, L07807
      Consensus CDS
      CCDS43882.1
      UniProtKB/Swiss-Prot
      Q05193
      Related
      ENSP00000345680, OTTHUMP00000215499, ENST00000341179, OTTHUMT00000355653
      Conserved Domains (5) summary
      cd01256
      Location:520629
      Blast Score: 531
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam00350
      Location:34207
      Blast Score: 531
      Dynamin_N; Dynamin family
      pfam01031
      Location:216511
      Blast Score: 1046
      Dynamin_M; Dynamin central region
      cd08771
      Location:29294
      Blast Score: 1092
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      cl02558
      Location:656745
      Blast Score: 300
      GED; Dynamin GTPase effector domain
    2. NM_004408.2NP_004399.2  dynamin-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 has been referred to as internal form 1 and the long C-terminal form.
      Source sequence(s)
      AI660320, BC050279, BC063850, L07807
      Consensus CDS
      CCDS6895.1
      UniProtKB/Swiss-Prot
      Q05193
      Related
      ENSP00000362014, OTTHUMP00000022236, ENST00000372923, OTTHUMT00000054367
      Conserved Domains (5) summary
      cd01256
      Location:520629
      Blast Score: 530
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam00350
      Location:34207
      Blast Score: 533
      Dynamin_N; Dynamin family
      pfam01031
      Location:216511
      Blast Score: 1047
      Dynamin_M; Dynamin central region
      cd08771
      Location:29294
      Blast Score: 1094
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      cl02558
      Location:656745
      Blast Score: 300
      GED; Dynamin GTPase effector domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      130965663..131017527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      100579095..100630981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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