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FLASH GENE
Symbol DNM1 contributors: mct/npt/pgu - updated : 04-11-2014
HGNC name dynamin 1
HGNC id 2972
Corresponding disease
EIEE31 epileptic encephalopathy, early infantile, 31
Location 9q34.11      Physical location : 130.965.662 - 131.017.527
Synonym symbol(s) DNM, MGM1, DYN1
EC.number 3.6.5.5
DNA
TYPE functioning gene
STRUCTURE 51.89 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
AK1 9q34.12 adenylate kinase 1 ST6GALNAC6 9q34.13 adenylate kinase 1 SIAT7D 9q34.1 sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) MGC46424 9q34.13 hypothetical protein MGC46424 LOC389790 9 similar to phosphatidylinositol phosphate kinase-like protein DPM2 9q34.13 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit FLJ10232 9q34.13 hypothetical protein FLJ10232 DKFZp762G199 9q34.13 hypothetical protein DKFZp762G199 MCSC 9q34.13 mitochondrial Ca2+-dependent solute carrier PTGES2 9q34.13 prostaglandin E synthase 2 LOC389791 9 hypothetical gene supported by AK094537 LCN2 9q34 lipocalin 2 (oncogene 24p3) C9orf16 9q34.1 chromosome 9 open reading frame 16 CIZ1 9q34.13 chromosome 9 open reading frame 16 DNM1 9q34 dynamin 1 GOLGA2 9q34.13 golgi autoantigen, golgin subfamily a, 2 LOC375757 9q34.13 hypothetical protein LOC375757 FLJ21673 9q34.13 hypothetical protein FLJ21673 CLONE24922 COQ4 9q34.13 coenzyme Q4 homolog (yeast) TMSL4 9 thymosin-like 4 SLC27A4 9q34.13 solute carrier family 27 (fatty acid transporter), member 4 C9orf74 9q34.13 chromosome 9 open reading frame 74 CEECAM1 9q34.13 cerebral endothelial cell adhesion molecule 1 LOC392394 9 similar to hypothetical protein ODF2 9q34 outer dense fiber of sperm tails 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 splicing 3216 97.3 864 - 2014 25262651
23 - 3253 95.1 851 - 2014 25262651
  • including an alternate exon in the 3' coding region that results in a frameshift and an early stop codon compared to variant 1
  • 23 - 3942 - 851 - 2014 25262651
    23 - 3297 - 851 - 2014 25262651
    22 - 3260 - 864 - 2014 25262651
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Visualeyeretina  specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal GTPase tripartite domain, that binds and hydrolyzes GTP and contains four GTP binding motifs (G1G4)
  • a pleckstrin homology (PH) domain that binds phosphoinositides and this interaction appears to be crucial for its function
  • a middle domain that is important for oligomerization
  • a GTPase effector domain that fulfills an assembly function and stimulates GTPase activity
  • a proline-rich domain that interacts with SH3 domains in other proteins
  • a basic proteine-rich C-terminus
  • HOMOLOGY
    interspecies homolog to murine dynamin
    Homologene
    FAMILY
  • dynamin family
  • super-family of large GTPase proteins
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text microtubule associated
    basic FUNCTION
  • involved in early stage of clathrin coated pits mediated endocytosis and formation of synaptic vesicles
  • has evolved to form structures that fit the dimensions of mitochondria
  • producing microtubule bundles
  • large multidomain GTPase dynamin that self-assembles around the necks of deeply invaginated coated pits at the plasma membrane and catalyzes vesicle scission
  • with DNM1L act redundantly in peroxisome biogenesis, which is under cell cycle control
  • mediates mitochondrial fission during interphasic growth and at cell division
  • involved in activity-dependent synaptic vesicle endocytosis and membrane recycling
  • has potentially a mechanochemical role during mitochondrial division
  • is a master regulator of membrane fission in endocytosis
  • likely affects amyloid generation through regulation of BACE1 subcellular localization and therefore its enzymatic activities
  • DNM1, DNM2, DNM3, decode action potential firing for synaptic vesicle recycling
  • implicated in vesicular protein transport processes relevant to synaptic and post-Golgi pathways, indicating a possible role in photoreceptor stability
  • role in podocyte foot process maintenance
  • GTPase protein that polymerise during their biological activity
  • exclusively brain-expressed GTPase localizing to the presynaptic terminal
  • causative role of DNM1 mutations in severe epileptic encephalopathies, presenting evidence for a predominant role of synaptic dysregulation in epileptic encephalopathies
  • DNM1 and DNM2 act as key mediators of sperm acrosome formation and function
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling neurotransmission
    a component essential component of vesicle formation in receptor-mediated endocytosis, synaptic vesicle recycling, and vesicle trafficking in and out of the tans-golgi network
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    protein
  • regulating MMP1 activity
  • GTP binding protein with GTPase activity
  • PACSIN3 exists in a persistent colocalized state with DNM1
  • cell & other
    REGULATION
    activated by NRSF in neuronal cells
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE31
    Susceptibility to epileptic encephalopathy
    Variant & Polymorphism other
  • causative role of DNM1 mutations in severe epileptic encephalopathies
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS