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DNM1L dynamin 1 like [ Homo sapiens (human) ]

Gene ID: 10059, updated on 3-Nov-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
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Genomic context

See DNM1L in Genome Data Viewer
Location:
12p11.21
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32679301..32745650)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (32555588..32621929)
RS_2024_09 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 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 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 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 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 protein complex oligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to mitochondrion IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to mitochondrion IMP
Inferred from Mutant Phenotype
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 mitophagy IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of peroxisome organization IEA
Inferred from Electronic Annotation
more info
 
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
 
colocalizes_with microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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
 
located_in mitochondrion HTP PubMed 
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_2024_08

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

    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

  2. XM_054370716.1XP_054226691.1  dynamin-1-like protein isoform X2