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DNM1L Gene

protein-coding   GIFtS: 66
GCID: GC12P032832

Dynamin 1-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dynamin 1-Like1 2     EC 3.6.5.53 8
DRP12 3 5     DYMPLE2 5
DVLP2 3 5     EMPF2 5
Dynamin Family Member Proline-Rich Carboxyl-Terminal Domain Less2 3     HDYNIV2
Dynamin-Like Protein 42 3     Dynamin-1-Like Protein2
Dynamin-Like Protein IV2 3     Dymple3
Dynamin-Related Protein 12 3     HdynIV3
DLP12 3     Dynamin-Like Protein3
Dnm1p/Vps1p-Like Protein2 3     

External Ids:    HGNC: 29731   Entrez Gene: 100592   Ensembl: ENSG000000874707   OMIM: 6038505   UniProtKB: O004293   

Export aliases for DNM1L gene to outside databases

Previous GC identifers: GC12P033322 GC12P032909 GC12P032732 GC12P032723 GC12P032584


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DNM1L Gene:
This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and
peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction
of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this
gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial
and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different
isoforms. (provided by RefSeq, Jun 2013)

GeneCards Summary for DNM1L Gene:
DNM1L (dynamin 1-like) is a protein-coding gene. Diseases associated with DNM1L include lethal encephalopathy due to defective mitochondrial peroxisomal fission, and encephalopahty, lethal, due to defective mitochondrial peroxisomal fission. GO annotations related to this gene include GTP binding and protein homodimerization activity. An important paralog of this gene is DNM1.

UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429
Function: Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization
into ring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane
through a GTP hydrolysis-dependent mechanism. Through its function in mitochondrial division, ensures the
survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative
damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally
regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase
activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues.
Also required for mitochondrial fission during mitosis. Required for formation of endocytic vesicles. Proposed to
regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its
GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing
vesicles. Required for programmed necrosis execution
Function: Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed

Gene Wiki entry for DNM1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNM1L gene promoter:
         NF-1   NF-1/L   USF1   RREB-1   USF2   USF-1:USF-2   XBP-1   Roaz   S8   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNM1L promoter sequence
   Search Chromatin IP Primers for DNM1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNM1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p11.21   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11.21

DNM1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNM1L gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P032832:  view genomic region     (about GC identifiers)

Start:
32,832,134 bp from pter      End:
32,898,584 bp from pter
Size:
66,451 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429 (See protein sequence)
Recommended Name: Dynamin-1-like protein  
Size: 736 amino acids; 81877 Da
Subunit: Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED
domain of another DNM1L molecule. Can self-assemble in multimeric ring-like structures. Interacts with GSK3B and
MARCH5. Interacts (via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L,
mainly in its B domain. Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its
transition to mitochondria. Interacts with BCL2L1 isoform BCL-X(L) and CLTA; DNM1L and BCL2L1 isoform BCL-X(L)
may form a complex in synaptic vesicles that also contains clathrin and MFF. Interacts with FIS1. Interacts with
MIEF2 and MIEF1. Interacts with PGAM5; this interaction leads to dephosphorylation at Ser-656 and activation of
GTPase activity and eventually to mitochondria fragmentation
3 PDB 3D structures from and Proteopedia for DNM1L:
4BEJ (3D)        4H1U (3D)        4H1V (3D)    
Secondary accessions: A8K4X9 B4DSU8 O14541 O60709 Q7L6B3 Q8TBT7 Q9BWM1 Q9Y5J2
Alternative splicing: 6 isoforms:  O00429-1   O00429-2   O00429-3   O00429-4   O00429-5   O00429-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNM1L: NX_O00429

Explore proteomics data for DNM1L at MOPED

Post-translational modifications: 

  • Phosphorylation/dephosphorylation events on two sites near the GED domain regulate mitochondrial fission.
    Phosphorylation on Ser-637 inhibits mitochondrial fission probably through preventing intramolecular interaction.
    Dephosphorylated on this site by PPP3CA which promotes mitochondrial fission. Phosphorylation on Ser-616 also
    promotes mitochondrial fission1
  • Sumoylated on various lysine residues within the B domain, probably by MUL1. Sumoylation positively regulates
    mitochondrial fission. Desumoylated by SENP5 during G2/M transition of mitosis. Appears to be linked to its
    catalytic activity1
  • S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage1
  • Ubiquitination by MARCH5 affects mitochondrial morphology1
  • O-GlcNAcylation augments the level of the GTP-bound active form of DRP1 and induces translocation from the
    cytoplasm to mitochondria in cardiomyocytes. It also decreases phosphorylation at Ser-637 (By similarity)1
  • Ubiquitination2 at Lys238
  • Glycosylation2 at Thr585, Thr586
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DNM1L (O00429) (see all 23)
     AQYQSLL  GVVNRSQ  VPKAVMH  TKLDLMD 


    See DNM1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001265392.1  NP_001265393.1  NP_001265394.1  NP_001265395.1  NP_005681.2  NP_036192.2  NP_036193.2  

    ENSEMBL proteins: 
     ENSP00000415131   ENSP00000449089   ENSP00000450399   ENSP00000350948   ENSP00000266481  
     ENSP00000450401   ENSP00000447845   ENSP00000447013   ENSP00000390090   ENSP00000396030  
     ENSP00000448610   ENSP00000448936   ENSP00000370388   ENSP00000447788   ENSP00000448105  
     ENSP00000448802   ENSP00000404160  
    Reactome Protein details: O00429

    DNM1L Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DNM1L

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    DNM1L Assay Products:

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    Cloud-Clone Corp. ELISAs for DNM1L
    Cloud-Clone Corp. CLIAs for DNM1L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR003130 GED
     IPR020850 GTPase_effector_domain_GED
     IPR022812 Dynamin_SF
     IPR019762 Dynamin_GTPase_CS
     IPR000375 Dynamin_central

    Graphical View of Domain Structure for InterPro Entry O00429

    ProtoNet protein and cluster: O00429

    1 Blocks protein domain: IPB001401 Dynamin

    UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429
    Domain: The GED domain folds back to interact, in cis, with the GTP-binding domain and middle domain, and
    interacts, in trans, with the GED domains of other DNM1L molecules, and is thus critical for activating GTPase
    activity and for DNM1L dimerization
    Similarity: Belongs to the dynamin family
    Similarity: Contains 1 GED domain


    DNM1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNM1L_HUMAN, O00429
    Function: Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization
    into ring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane
    through a GTP hydrolysis-dependent mechanism. Through its function in mitochondrial division, ensures the
    survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative
    damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally
    regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase
    activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues.
    Also required for mitochondrial fission during mitosis. Required for formation of endocytic vesicles. Proposed to
    regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its
    GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing
    vesicles. Required for programmed necrosis execution
    Function: Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Enzyme Number (IUBMB): EC 3.6.5.51 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0005515protein binding IPI12861026
    GO:0005525GTP binding IEA--
    GO:0031625ubiquitin protein ligase binding IPI16874301
    GO:0042802identical protein binding IPI--
         
    DNM1L for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Dnm1l):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  muscle 
     nervous system  respiratory system 

    DNM1L for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DNM1L: Dnm1ltm1.2Miha Dnm1ltm1.2Hise

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNM1L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNM1L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNM1L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNM1L

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNM1L:
    hsa-mir-25-3p (MIRT050255), hsa-mir-615-3p (MIRT039911)

    Block miRNA regulation of human, mouse, rat DNM1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNM1L (see all 33):
    hsa-miR-330-5p hsa-miR-3651 hsa-miR-485-3p hsa-let-7a-2* hsa-miR-578 hsa-miR-519a hsa-miR-3171 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidDNM1L 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat DNM1L

    Gene Editing
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    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNM1L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DNM1L_HUMAN, O00429: Cytoplasm, cytosol. Golgi apparatus. Endomembrane system; Peripheral membrane protein.
    Mitochondrion outer membrane; Peripheral membrane protein. Peroxisome. Membrane, clathrin-coated pit (By
    similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Note=Mainly
    cytosolic. Translocated to the mitochondrial membrane through O-GlcNAcylation and interaction with FIS1.
    Colocalized with MARCH5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to
    mitochondria following necrosis induction. Associated with peroxisomal membranes, partly recruited there by
    PEX11B. May also be associated with endoplasmic reticulum tubules and cytoplasmic vesicles and found to be
    perinuclear. In some cell types, localizes to the Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    golgi apparatus5
    mitochondrion5
    peroxisome5
    vacuole2
    endoplasmic reticulum1
    endosome1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005777peroxisome IMP--
    GO:0005794Golgi apparatus IDA--

    DNM1L for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNM1L About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic execution phase0.74
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    3CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    4TNF signaling pathway
    TNF signaling pathway
    5Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DNM1L
        Cytoskeletal Signaling

    1 BioSystems Pathway for DNM1L
        Synaptic Vesicle Pathway

    1 Reactome Pathway for DNM1L
        Apoptotic execution phase


    1 Kegg Pathway  (Kegg details for DNM1L):
        TNF signaling pathway


    DNM1L for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including DNM1L: 
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DNM1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DNM1L (O004291, 2, 3 ENSP000002664814) via UniProtKB, MINT, STRING, and/or I2D (see all 924)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MIEF1Q9NQG61, 2, 3, ENSP000003271244EBI-724571,EBI-740987 MINT-8212983 MINT-8212912 MINT-8212925 MINT-8212819 MINT-8212806 MINT-8212858 MINT-8293107 MINT-8212881 MINT-8212834 I2D: score=1 STRING: ENSP00000327124
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IMP--
    GO:0001836release of cytochrome c from mitochondria IMP--
    GO:0003374dynamin polymerization involved in mitochondrial fission IDA11514614
    GO:0006184GTP catabolic process IDA--
    GO:0006897endocytosis IEA--

    DNM1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNM1L

    4 HMDB Compounds for DNM1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 Novoseek inferred chemical compound relationships for DNM1L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 50.7 12 11553726 (3), 19426871 (1), 17721437 (1), 20307494 (1) (see all 5)
    rotenone 31.9 1 16874299 (1)
    atp 29.2 3 19546216 (1), 17682056 (1), 19703650 (1)
    calcium 7.05 9 12668660 (2), 16010987 (1), 20428767 (1), 15469833 (1) (see all 7)



    DNM1L for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DNM1L gene (7 alternative transcripts): 
    NM_001278463.1  NM_001278464.1  NM_001278465.1  NM_001278466.1  NM_005690.4  NM_012062.4  NM_012063.3  

    Unigene Cluster for DNM1L:

    Dynamin 1-like
    Hs.556296  [show with all ESTs]
    Unigene Representative Sequence: NM_012062
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000452533(uc010skf.1 uc010skg.1 uc001rld.2 uc001rle.2 uc001rlf.2 uc010skh.1 uc001rlg.2 uc001rlh.2 uc010ski.1)
    ENST00000553257 ENST00000549701 ENST00000358214 ENST00000548671 ENST00000266481
    ENST00000550011 ENST00000551076 ENST00000551643 ENST00000551476 ENST00000550154
    ENST00000547932 ENST00000434676 ENST00000413295 ENST00000547312 ENST00000546649
    ENST00000381000 ENST00000548750
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    hsa-miR-330-5p hsa-miR-3651 hsa-miR-485-3p hsa-let-7a-2* hsa-miR-578 hsa-miR-519a hsa-miR-3171 hsa-miR-326
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      QuantiTect SYBR Green Assays in human, mouse, rat DNM1L
      QuantiFast Probe-based Assays in human, mouse, rat DNM1L

    Additional mRNA sequence: 

    AB006965.1 AB209070.1 AF000430.1 AF061795.1 AF151685.1 AK090788.1 AK291094.1 AK293290.1 
    AK294533.1 AK298568.1 AK299926.1 AK302565.1 AK311606.1 BC024590.1 BC107763.1 

    Selected DOTS entries (see all 37):

    DT.100014327  DT.91769764  DT.100815808  DT.121151331  DT.442181  DT.100815814  DT.95244954  DT.121151329 
    DT.121151283  DT.451201  DT.100815806  DT.91963741  DT.100830288  DT.100815812  DT.406467  DT.121151379 
    DT.75200316  DT.121151292  DT.75165742  DT.100780242  DT.121151352  DT.95245019  DT.100764283  DT.121151349 

    Selected AceView cDNA sequences (see all 328):

    BM459368 BG181442 BP872773 CB118177 CA945091 BQ062250 BP342434 BM715907 
    BP360233 AA045004 BF437453 AA977240 BX462213 AA045529 BP343297 AB006965 
    CD241884 CA435027 AI889177 H81659 BM926844 BX419444 BM930984 AL043630 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DNM1L (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:                    -                                                                 -                             -                       -     -         
    SP2:                    -                                                                 -                             -                 -     -     -         
    SP3:                    -                                                                 -                             -                       -     -     -   
    SP4:                    -                                                                 -                             -                 -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d
    SP1:  -                                                   
    SP2:  -                                                   
    SP3:  -                                                   
    SP4:  -                                                   
    SP5:                                                      


    ECgene alternative splicing isoforms for DNM1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DNM1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATGGTAAT
    DNM1L Expression
    About this image


    DNM1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    DNM1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNM1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.556296

    UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429
    Tissue specificity: Ubiquitously expressed with highest levels found in skeletal muscles, heart, kidney and brain.
    Isoform 1 is brain-specific. Isoform 2 and isoform 3 are predominantly expressed in testis and skeletal muscles
    respectively. Isoform 4 is weakly expressed in brain, heart and kidney. Isoform 5 is dominantly expressed in
    liver, heart and kidney. Isoform 6 is expressed in neurons

        Pathway & Disease-focused RT2 Profiler PCR Array including DNM1L: 
              Mitochondria in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DNM1L gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnm1l1 , 5 dynamin 1-like1, 5 91.19(n)1
    98.04(a)1
      16 (10.12 cM)5
    740061  NM_001276340.11  NP_001263269.11 
     163122355 
    chicken
    (Gallus gallus)
    Aves DNM1L1 dynamin 1-like 84.2(n)
    94.83(a)
      418132  NM_001079722.1  NP_001073190.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNM1L6
    dynamin 1-like
    93(a)
    1 ↔ 1
    5(10154804-10190917)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046374.12   -- 79.32(n)    BC046374.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055521.12   -- 76.92(n)   393896  BC055521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32103
    Drp11
    Dynamin related protein 11 61(a)3
    60.64(n)1
    67.73(a)1
      23A13
    334451  NM_001273017.11  NP_001259946.11 
    worm
    (Caenorhabditis elegans)
    Secernentea drp-11 , 3 dynamin-like protein3
    drp-11
    61(a)3
    60.29(n)1
    63.86(a)1
      IV(5538681-5541232)3
    1773361  NM_171344.31  NP_741403.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DNM1(YLL001W)4
    DNM11
    Dynamin-related GTPase required for mitochondrial fission more4
    DNM11
    52.52(n)1
    48.27(a)1
      12(147890-150163)4
    8506861, 4  NP_013100.11, 4 
    rice
    (Oryza sativa)
    Liliopsida NM_192052.12   -- 68.15(n)    NM_192052.1 


    ENSEMBL Gene Tree for DNM1L (if available)
    TreeFam Gene Tree for DNM1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNM1L gene
    DNM12  MX22  DNM22  DNM32  MX12  
    7 SIMAP similar genes for DNM1L using alignment to 17 protein entries:     DNM1L_HUMAN (see all proteins):
    DNM1    DNM3    DNM2    MX1    MX2    DNM1P34
    OPA1

    DNM1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for DNM1L (see all 1645)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637044
    Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF)4--see VAR_0637042 A D mis40--------
    rs1494763431,2
    C--32601608(+) CACAA-/ACAC  
            
    ACACA
    3 -- int10--------
    rs106006201,2
    C--32609914(+) aaaaa-/A/A   
       A
    /AAA
    TGCAA
    6 -- int1 cds11NA 2
    rs110521581,2
    C,F,A--32697803(+) GTCACT/CTAGGC 3 -- us2k15Minor allele frequency- C:0.30WA NA 244
    rs1435849291,2
    --32697813(+) CTGGAA/GTGCGG 3 -- us2k10--------
    rs110521591,2
    C,F--32697954(+) GTAGAG/CACTGG 3 -- us2k13Minor allele frequency- C:0.50WA NA CSA 6
    rs1405971541,2
    --32698028(+) CCTCAA/GCCTCC 3 -- us2k10--------
    rs1454823271,2
    --32698061(+) TGCACC/TACCAC 3 -- us2k10--------
    rs1509758391,2
    --32698066(+) CACCAC/TGCCCG 3 -- us2k10--------
    rs1408895911,2
    C--32698070(+) ACGCCA/CGGTTA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNM1L (32832134 - 32898584 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DNM1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507639CNV Insertion20534489

    Human Gene Mutation Database (HGMD): DNM1L
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNM1L
    DNA2.0 Custom Variant and Variant Library Synthesis for DNM1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603850   
    OMIM disorders: 614388  
    UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429
  • Note=May be associated with Alzheimer disease through beta-amyloid-induced increased S-nitrosylation of
    DNM1L, which triggers, directly or indirectly, excessive mitochondrial fission, synaptic loss and neuronal damage
  • Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388]: A
    rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After
    birth, infants present in the first week of life with poor feeding and neurologic impairment, including
    hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual
    fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic
    acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both
    frontal lobes associated with dysmyelination. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for DNM1L (see all 29):    
    About MalaCards
    lethal encephalopathy due to defective mitochondrial peroxisomal fission    encephalopahty, lethal, due to defective mitochondrial peroxisomal fission    optic atrophy    tooth disease
    charcot-marie-tooth disease    lactic acidosis    alzheimer's disease    spinocerebellar ataxia
    microcephaly    hypotonia    brain cancer    huntington's disease
    ataxia    lung adenocarcinoma    parkinson's disease    hypertension
    obesity    hypoxia    hiv-1    retinitis


    DNM1L for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DNM1L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brain tumors 0.142 4 10749171 (3), 14741701 (1)

    Genetic Association Database (GAD): DNM1L
    Human Genome Epidemiology (HuGE) Navigator: DNM1L (1 document)

    Export disorders for DNM1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for DNM1L gene, integrated from 10 sources (see all 200):
    (articles sorted by number of sources associating them with DNM1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human dynamin-like protein interacts with the glycogen synthase kinase 3beta. (PubMed id 9731200)1, 2, 3, 9 Hong Y.-R.... Chow C.-C. (Biochem. Biophys. Res. Commun. 1998)
    2. Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p. (PubMed id 9348079)1, 2, 3, 9 Shin H.-W.... Nakayama K. (J. Biochem. 1997)
    3. A human dynamin-related protein controls the distribution of mitochondria. (PubMed id 9786947)1, 2, 9 Smirnova E.... van der Bliek A.M. (J. Cell Biol. 1998)
    4. CaM kinase I alpha-induced phosphorylation of Drp1 regulates mitochondrial morphology. (PubMed id 18695047)1, 2, 9 Han X.J.... Matsushita M. (J. Cell Biol. 2008)
    5. Dephosphorylation by calcineurin regulates translocation of Drp1 to mitochondria. (PubMed id 18838687)1, 2, 9 Cereghetti G.M.... Scorrano L. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. Dynamin-related protein Drp1 is required for mitochondrial division in mammalian cells. (PubMed id 11514614)1, 2, 9 Smirnova E.... van der Bliek A.M. (Mol. Biol. Cell 2001)
    7. Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p. (PubMed id 9570752)1, 2, 9 Imoto M.... Urrutia R. (J. Cell Sci. 1998)
    8. Cyclic AMP-dependent protein kinase phosphorylation of Drp1 regulates its GTPase activity and mitochondrial morphology. (PubMed id 17553808)1, 2, 9 Chang C.R. and Blackstone C. (J. Biol. Chem. 2007)
    9. Differential expression of four human dynamin-like protein variants in brain tumors. (PubMed id 10749171)1, 2, 9 Chen C.-H....Hong Y.-R. (DNA Cell Biol. 2000)
    10. A lethal defect of mitochondrial and peroxisomal fission. (PubMed id 17460227)1, 2, 9 Waterham H.R.... Leonard J.V. (N. Engl. J. Med. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 10059 HGNC: 2973 AceView: DNM1L Ensembl:ENSG00000087470 euGenes: HUgn10059
    ECgene: DNM1L Kegg: 10059 H-InvDB: DNM1L

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DNM1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNM1L gene:
    Search GeneIP for patents involving DNM1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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