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    DNM1L dynamin 1-like [ Homo sapiens (human) ]

    Gene ID: 10059, updated on 26-Jul-2015
    Official Symbol
    DNM1Lprovided by HGNC
    Official Full Name
    dynamin 1-likeprovided by HGNC
    Primary source
    HGNC:HGNC:2973
    See related
    Ensembl:ENSG00000087470; HPRD:04833; MIM:603850; Vega:OTTHUMG00000169451
    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
    DLP1; DRP1; DVLP; EMPF; DYMPLE; HDYNIV
    Summary
    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]
    Orthologs
    See DNM1L in Epigenomics, MapViewer
    Location:
    12p11.21
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (32679200..32745650)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32832134..32898584)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene bicaudal D homolog 1 (Drosophila) Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene nucleosome assembly protein 1-like 1 pseudogene Neighboring gene tyrosyl-tRNA synthetase 2, mitochondrial Neighboring gene plakophilin 2 Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene argininosuccinate synthetase 1 pseudogene 14

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Knockdown of DRP1 by siRNA reduces mitochondria polarization in HIV-1 infected T cells to the Gag-accumulated virological synapse contact site PubMed
    Tat tat HIV-1 Tat modulates DRP1 expression in neuron cells PubMed
    Vpr vpr The RNA and protein levels of DRP1 decreases in Vpr-treated human neurons compared to the untreated control PubMed
    vpr HIV-1 Vpr induces nuclear translocation of DRP1. Knockdown of DRP1 expression induces the accumulation of Vpr in the mitochondria-associated membrane PubMed

    Go to the HIV-1, Human Interaction Database

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ41912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
     
    cellular component disassembly involved in execution phase of apoptosis TAS
    Traceable Author Statement
    more info
     
    dynamin polymerization involved in mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial fragmentation involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial membrane fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peroxisome fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrial fission TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    programmed cell death TAS
    Traceable Author Statement
    more info
     
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    dynamin-1-like protein
    Names
    Dnm1p/Vps1p-like protein
    dynamin family member proline-rich carboxyl-terminal domain less
    dynamin-like protein 4
    dynamin-like protein IV
    dynamin-related protein 1
    NP_001265392.1
    NP_001265393.1
    NP_001265394.1
    NP_001265395.1
    NP_005681.2
    NP_036192.2
    NP_036193.2

    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_012219.1 RefSeqGene

      Range
      4998..71448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278463.1NP_001265392.1  dynamin-1-like protein isoform 4

      See identical proteins and their annotated locations for NP_001265392.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087588, AF151685, AK302565
      Consensus CDS
      CCDS61098.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Conserved Domains (4) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:88718
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:226495
      Dynamin_M; Dynamin central region
      pfam02212
      Location:630719
      GED; Dynamin GTPase effector domain
    2. NM_001278464.1NP_001265393.1  dynamin-1-like protein isoform 5

      See identical proteins and their annotated locations for NP_001265393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (5) is longer, compared to isoform 1.
      Source sequence(s)
      AC087588, AK299926, AK302565
      Consensus CDS
      CCDS61095.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Conserved Domains (4) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:101742
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:239508
      Dynamin_M; Dynamin central region
      pfam02212
      Location:654743
      GED; Dynamin GTPase effector domain
    3. NM_001278465.1NP_001265394.1  dynamin-1-like protein isoform 6

      See identical proteins and their annotated locations for NP_001265394.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate in-frame exon in the 5' coding region and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (6) is longer, compared to isoform 1.
      Source sequence(s)
      AB209070, AC087588, AK302565
      Consensus CDS
      CCDS61096.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Related
      ENSP00000370388, OTTHUMP00000241170, ENST00000381000, OTTHUMT00000404138
      Conserved Domains (4) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:101731
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:239508
      Dynamin_M; Dynamin central region
      pfam02212
      Location:643732
      GED; Dynamin GTPase effector domain
    4. NM_001278466.1NP_001265395.1  dynamin-1-like protein isoform 7

      See identical proteins and their annotated locations for NP_001265395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate exon in its 5' UTR, lacks four consecutive exons in the internal coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (7) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC087588, AK294533, AK302565
      Consensus CDS
      CCDS61099.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Related
      ENSP00000404160, ENST00000414834
      Conserved Domains (3) summary
      COG0699
      Location:8526
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:44292
      Dynamin_M; Dynamin central region
      pfam02212
      Location:438527
      GED; Dynamin GTPase effector domain
    5. NM_005690.4NP_005681.2  dynamin-1-like protein isoform 3

      See identical proteins and their annotated locations for NP_005681.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two consecutive in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087588, AK291094, AK302565
      Consensus CDS
      CCDS8728.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Conserved Domains (4) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:88692
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:226495
      Dynamin_M; Dynamin central region
      pfam02212
      Location:604693
      GED; Dynamin GTPase effector domain
    6. NM_012062.4NP_036192.2  dynamin-1-like protein isoform 1

      See identical proteins and their annotated locations for NP_036192.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB006965, AC087588, AK302565
      Consensus CDS
      CCDS8729.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Conserved Domains (4) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:88729
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:226495
      Dynamin_M; Dynamin central region
      pfam02212
      Location:641730
      GED; Dynamin GTPase effector domain
    7. NM_012063.3NP_036193.2  dynamin-1-like protein isoform 2

      See identical proteins and their annotated locations for NP_036193.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087588, AK302565, BC024590
      Consensus CDS
      CCDS8730.1
      UniProtKB/TrEMBL
      B4DYR6
      UniProtKB/Swiss-Prot
      O00429
      Related
      ENSP00000415131, OTTHUMP00000241158, ENST00000452533, OTTHUMT00000404122
      Conserved Domains (4) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:88703
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:226495
      Dynamin_M; Dynamin central region
      pfam02212
      Location:615704
      GED; Dynamin GTPase effector domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

      Range
      32679200..32745650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520543.1XP_011518845.1  

      See identical proteins and their annotated locations for XP_011518845.1

      Conserved Domains (4) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:101716
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:239508
      Dynamin_M; Dynamin central region
      pfam02212
      Location:628717
      GED; Dynamin GTPase effector domain
    2. XM_005253282.3XP_005253339.1  

      See identical proteins and their annotated locations for XP_005253339.1

      UniProtKB/TrEMBL
      G8JLD5
      Conserved Domains (4) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:101705
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:239508
      Dynamin_M; Dynamin central region
      pfam02212
      Location:617706
      GED; Dynamin GTPase effector domain
    3. XM_011520544.1XP_011518846.1  

      See identical proteins and their annotated locations for XP_011518846.1

      Conserved Domains (3) summary
      COG0699
      Location:1510
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:7276
      Dynamin_M; Dynamin central region
      pfam02212
      Location:422511
      GED; Dynamin GTPase effector domain
    4. XM_005253283.3XP_005253340.1  

      See identical proteins and their annotated locations for XP_005253340.1

      Conserved Domains (4) summary
      cd08771
      Location:1153
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:1580
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:77346
      Dynamin_M; Dynamin central region
      pfam02212
      Location:492581
      GED; Dynamin GTPase effector domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      32798646..32865086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)