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

Gene ID: 10059, updated on 14-Apr-2014
Official Symbol
DNM1Lprovided by HGNC
Official Full Name
dynamin 1-likeprovided by HGNC
Primary source
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]
Location :
12p11.21
Sequence :
Chromosome: 12; NC_000012.12 (32679200..32745650)
See DNM1L in Epigenomics, MapViewer

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
Tat, p14 tat HIV-1 Tat modulates DRP1 expression in neuron cells PubMed
Vpr, p15 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 Protein 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...
  • 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

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
 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GTP catabolic process IDA
Inferred from Direct Assay
more info
 
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
 
membrane fission involved in mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
membrane fusion IDA
Inferred from Direct Assay
more info
 
mitochondrial fission IDA
Inferred from Direct Assay
more info
 
mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
 
mitochondrial fragmentation involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
 
necroptotic process IMP
Inferred from Mutant Phenotype
more info
 
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
 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of mitochondrial fission TAS
Traceable Author Statement
more info
 
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
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
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
 
release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
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
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
microtubule IDA
Inferred from Direct Assay
more info
 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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
 
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
dynamin-1-like protein
dynamin-like protein 4
dynamin-like protein IV
Dnm1p/Vps1p-like protein
dynamin-related protein 1
dynamin family member proline-rich carboxyl-terminal domain less
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 proteins identical to 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
    Blast Score: 1061
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:88718
    Blast Score: 449
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:226495
    Blast Score: 957
    Dynamin_M; Dynamin central region
    pfam02212
    Location:630719
    Blast Score: 334
    GED; Dynamin GTPase effector domain
  2. NM_001278464.1NP_001265393.1  dynamin-1-like protein isoform 5

    See proteins identical to 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
    Blast Score: 1050
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:101742
    Blast Score: 444
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:239508
    Blast Score: 958
    Dynamin_M; Dynamin central region
    pfam02212
    Location:654743
    Blast Score: 335
    GED; Dynamin GTPase effector domain
  3. NM_001278465.1NP_001265394.1  dynamin-1-like protein isoform 6

    See proteins identical to 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/TrEMBL
    J3KPI2
    UniProtKB/TrEMBL
    Q59GN9
    Related
    ENSP00000370388, OTTHUMP00000241170, ENST00000381000, OTTHUMT00000404138
    Conserved Domains (4) summary
    cd08771
    Location:23315
    Blast Score: 1051
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:101731
    Blast Score: 451
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:239508
    Blast Score: 959
    Dynamin_M; Dynamin central region
    pfam02212
    Location:643732
    Blast Score: 335
    GED; Dynamin GTPase effector domain
  4. NM_001278466.1NP_001265395.1  dynamin-1-like protein isoform 7

    See proteins identical to 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
    B4DGC9
    UniProtKB/TrEMBL
    B4DYR6
    Conserved Domains (3) summary
    COG0699
    Location:8526
    Blast Score: 218
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:44292
    Blast Score: 854
    Dynamin_M; Dynamin central region
    pfam02212
    Location:438527
    Blast Score: 331
    GED; Dynamin GTPase effector domain
  5. NM_005690.4NP_005681.2  dynamin-1-like protein isoform 3

    See proteins identical to 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
    Blast Score: 1059
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:88692
    Blast Score: 464
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:226495
    Blast Score: 952
    Dynamin_M; Dynamin central region
    pfam02212
    Location:604693
    Blast Score: 332
    GED; Dynamin GTPase effector domain
  6. NM_012062.4NP_036192.2  dynamin-1-like protein isoform 1

    See proteins identical to 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
    Blast Score: 1060
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:88729
    Blast Score: 442
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:226495
    Blast Score: 956
    Dynamin_M; Dynamin central region
    pfam02212
    Location:641730
    Blast Score: 334
    GED; Dynamin GTPase effector domain
  7. NM_012063.3NP_036193.2  dynamin-1-like protein isoform 2

    See proteins identical to 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
    Blast Score: 1057
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:88703
    Blast Score: 459
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:226495
    Blast Score: 950
    Dynamin_M; Dynamin central region
    pfam02212
    Location:615704
    Blast Score: 331
    GED; Dynamin GTPase effector domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12

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

mRNA and Protein(s)

  1. XM_005253282.2XP_005253339.1  

    See proteins identical to XP_005253339.1

    UniProtKB/TrEMBL
    G8JLD5
    Conserved Domains (4) summary
    cd08771
    Location:23315
    Blast Score: 1049
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:101705
    Blast Score: 467
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:239508
    Blast Score: 954
    Dynamin_M; Dynamin central region
    pfam02212
    Location:617706
    Blast Score: 333
    GED; Dynamin GTPase effector domain
  2. XM_005253283.2XP_005253340.1  

    See proteins identical to XP_005253340.1

    Conserved Domains (4) summary
    cd08771
    Location:1153
    Blast Score: 547
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    COG0699
    Location:1580
    Blast Score: 324
    COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
    pfam01031
    Location:77346
    Blast Score: 957
    Dynamin_M; Dynamin central region
    pfam02212
    Location:492581
    Blast Score: 331
    GED; Dynamin GTPase effector domain

Alternate HuRef

Genomic

  1. AC_000144.1 Alternate HuRef

    Range
    32584423..32651060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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

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