U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    DNM1L dynamin 1 like [ Homo sapiens (human) ]

    Gene ID: 10059, updated on 17-Jun-2024

    Summary

    Official Symbol
    DNM1Lprovided by HGNC
    Official Full Name
    dynamin 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:2973
    See related
    Ensembl:ENSG00000087470 MIM:603850; AllianceGenome:HGNC:2973
    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; OPA5; EMPF1; 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]
    Expression
    Ubiquitous expression in brain (RPKM 31.0), testis (RPKM 22.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNM1L in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32679301..32745650)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (32555588..32621929)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32832235..32898584)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4338 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32676322-32676822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32715914-32716598 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32719564-32720065 Neighboring gene uncharacterized LOC124902914 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4339 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32907771-32908410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32908411-32909050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32909051-32909690 Neighboring gene MPRA-validated peak1668 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:32939152-32940351 Neighboring gene tyrosyl-tRNA synthetase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32986943-32987472 Neighboring gene plakophilin 2 Neighboring gene ribosomal protein L35a pseudogene 27

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTP-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity IC
    Inferred by Curator
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular distribution of mitochondria IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular distribution of mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fragmentation involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fragmentation involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial membrane fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial membrane fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peroxisome fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in peroxisome fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peroxisome fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrial fission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of neutrophil chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein complex oligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_positive_effect protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    NOT located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    colocalizes_with mitochondrion-derived vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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_001317309.1
    NP_005681.2
    NP_036192.2
    NP_036193.2
    XP_011518845.1
    XP_047284003.1
    XP_054226690.1
    XP_054226691.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5099..71448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278463.2NP_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
      F8VZ52
      Related
      ENSP00000448610.1, ENST00000547312.5
      Conserved Domains (3) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:226510
      Dynamin_M; Dynamin central region
      pfam02212
      Location:631719
      GED; Dynamin GTPase effector domain
    2. NM_001278464.2NP_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
      Consensus CDS
      CCDS61095.1
      UniProtKB/TrEMBL
      F8VUJ9
      Related
      ENSP00000449089.1, ENST00000553257.6
      Conserved Domains (3) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:239523
      Dynamin_M; Dynamin central region
      pfam02212
      Location:655743
      GED; Dynamin GTPase effector domain
    3. NM_001278465.2NP_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
      F8VUJ9
      Related
      ENSP00000370388.4, ENST00000381000.8
      Conserved Domains (3) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:238523
      Dynamin_M; Dynamin central region
      pfam02212
      Location:642732
      GED; Dynamin GTPase effector domain
    4. NM_001278466.2NP_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) differs in the 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
      UniProtKB/TrEMBL
      A0A994J6L8
      Conserved Domains (3) summary
      COG0699
      Location:8526
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:44307
      Dynamin_M; Dynamin central region
      pfam02212
      Location:439527
      GED; Dynamin GTPase effector domain
    5. NM_001330380.2NP_001317309.1  dynamin-1-like protein isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate in-frame exon in the 5' coding region and lacks two consecutive in-frame exons in the central coding region compared to variant 1. The encoded isoform (8) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087588, AK291094, AK302565, BP342434
      Consensus CDS
      CCDS81680.1
      UniProtKB/TrEMBL
      F8VUJ9
      Related
      ENSP00000350948.5, ENST00000358214.9
      Conserved Domains (3) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:239523
      Dynamin_M; Dynamin central region
      pfam02212
      Location:618706
      GED; Dynamin GTPase effector domain
    6. NM_005690.5NP_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
      F8VZ52
      Related
      ENSP00000266481.6, ENST00000266481.10
      Conserved Domains (3) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:226510
      Dynamin_M; Dynamin central region
      pfam02212
      Location:605693
      GED; Dynamin GTPase effector domain
    7. NM_012062.5NP_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/Swiss-Prot
      A8K4X9, B4DGC9, B4DSU8, G8JLD5, J3KPI2, O00429, O14541, O60709, Q59GN9, Q7L6B3, Q8TBT7, Q9BWM1, Q9Y5J2
      UniProtKB/TrEMBL
      F8VUJ9
      Related
      ENSP00000450399.1, ENST00000549701.6
      Conserved Domains (3) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:226510
      Dynamin_M; Dynamin central region
      pfam02212
      Location:642730
      GED; Dynamin GTPase effector domain
    8. NM_012063.4NP_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
      Related
      ENSP00000415131.2, ENST00000452533.6
      Conserved Domains (3) summary
      cd08771
      Location:23302
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:226510
      Dynamin_M; Dynamin central region
      pfam02212
      Location:616704
      GED; Dynamin GTPase effector domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      32679301..32745650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520543.4XP_011518845.1  dynamin-1-like protein isoform X1

      See identical proteins and their annotated locations for XP_011518845.1

      UniProtKB/TrEMBL
      F8VUJ9
      Conserved Domains (3) summary
      cd08771
      Location:23315
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      pfam01031
      Location:239523
      Dynamin_M; Dynamin central region
      pfam02212
      Location:629717
      GED; Dynamin GTPase effector domain
    2. XM_047428047.1XP_047284003.1  dynamin-1-like protein isoform X2

      UniProtKB/TrEMBL
      A0A994J6L8
      Related
      ENSP00000515279.1, ENST00000703369.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      32555588..32621929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370715.1XP_054226690.1  dynamin-1-like protein isoform X1

      UniProtKB/TrEMBL
      F8VUJ9
    2. XM_054370716.1XP_054226691.1  dynamin-1-like protein isoform X2

      UniProtKB/TrEMBL
      A0A994J6L8