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DNM1L dynamin 1 like [ Homo sapiens (human) ]

Gene ID: 10059, updated on 5-Jul-2020

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
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

Genomic context

See DNM1L in Genome Data Viewer
Location:
12p11.21
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 BICD cargo adaptor 1 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene tyrosyl-tRNA synthetase 2 Neighboring gene plakophilin 2 Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene argininosuccinate synthetase 1 pseudogene 14

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

Homology

Clone Names

  • FLJ41912

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH2 domain binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTP-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IC
Inferred by Curator
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
clathrin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic mitochondrial changes IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxygen-glucose deprivation IEA
Inferred from Electronic Annotation
more info
 
cellular response to thapsigargin IEA
Inferred from Electronic Annotation
more info
 
dynamin family protein polymerization involved in mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynamin family protein polymerization involved in mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
NOT endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
execution phase of apoptosis TAS
Traceable Author Statement
more info
 
heart contraction IEA
Inferred from Electronic Annotation
more info
 
intracellular distribution of mitochondria IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular distribution of mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane fusion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 
mitochondrial membrane fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
necroptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitochondrial fusion IEA
Inferred from Electronic Annotation
more info
 
organelle fission IBA
Inferred from Biological aspect of Ancestor
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 GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 neutrophil chemotaxis IMP
Inferred from Mutant Phenotype
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 
positive regulation of synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
protein complex oligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to mitochondrion IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagy of mitochondrion IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
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 ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to flavonoid IEA
Inferred from Electronic Annotation
more info
 
response to hypobaric hypoxia IEA
Inferred from Electronic Annotation
more info
 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle recycling via endosome IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
NOT endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with microtubule IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
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 
mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with mitochondrion-derived vesicle 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 
presynaptic endocytic zone membrane IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
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_011518846.1
XP_016874152.1
XP_016874153.1
XP_016874154.1

NCBI Reference Sequences (RefSeq)

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_001278463.1NP_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/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    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:226509
    Dynamin_M; Dynamin central region
    pfam02212
    Location:631719
    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/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    Related
    ENSP00000449089.1, ENST00000553257.5
    Conserved Domains (3) summary
    cd08771
    Location:23315
    DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
    pfam01031
    Location:239522
    Dynamin_M; Dynamin central region
    pfam02212
    Location:655743
    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/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    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:239522
    Dynamin_M; Dynamin central region
    pfam02212
    Location:644732
    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) 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
    Consensus CDS
    CCDS61099.1
    UniProtKB/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    Related
    ENSP00000404160.2, ENST00000414834.6
    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_001330380.1NP_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/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6, G8JLD5
    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:239522
    Dynamin_M; Dynamin central region
    pfam02212
    Location:618706
    GED; Dynamin GTPase effector domain
  6. 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/Swiss-Prot
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    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:226509
    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
    O00429
    UniProtKB/TrEMBL
    B4DYR6
    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:226509
    Dynamin_M; Dynamin central region
    pfam02212
    Location:642730
    GED; Dynamin GTPase effector domain
  8. 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/Swiss-Prot
    O00429
    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:226509
    Dynamin_M; Dynamin central region
    pfam02212
    Location:616704
    GED; Dynamin GTPase effector domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017018663.2XP_016874152.1  dynamin-1-like protein isoform X3

  2. XM_011520543.3XP_011518845.1  dynamin-1-like protein isoform X1

    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    pfam01031
    Location:240523
    Dynamin_M; Dynamin central region
    pfam02212
    Location:629717
    GED; Dynamin GTPase effector domain
  3. XM_011520544.2XP_011518846.1  dynamin-1-like protein isoform X2

    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:8291
    Dynamin_M; Dynamin central region
    pfam02212
    Location:423511
    GED; Dynamin GTPase effector domain
  4. XM_017018664.1XP_016874153.1  dynamin-1-like protein isoform X4

  5. XM_017018665.1XP_016874154.1  dynamin-1-like protein isoform X5

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