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DNM1L dynamin 1 like [ Homo sapiens (human) ]

Gene ID: 10059, updated on 4-Jan-2025

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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • FLJ41912

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding  
enables GTP-dependent protein binding PubMed 
enables GTPase activator activity PubMed 
enables GTPase activity  
enables GTPase activity PubMed 
enables identical protein binding PubMed 
enables lipid binding  
enables membrane scission GTPase motor activity  
enables microtubule binding  
enables protein binding PubMed 
enables protein homodimerization activity PubMed 
enables small GTPase binding PubMed 
enables ubiquitin protein ligase binding PubMed 
Items 1 - 25 of 32
Process Evidence Code Pubs
involved_in calcium ion transport  
involved_in endocytosis  
NOT involved_in endoplasmic reticulum organization PubMed 
involved_in heart contraction  
involved_in intracellular distribution of mitochondria  
involved_in intracellular distribution of mitochondria PubMed 
involved_in mitochondrial fission  
involved_in mitochondrial fission PubMed 
acts_upstream_of_or_within mitochondrial fission PubMed 
involved_in mitochondrial fission PubMed 
involved_in mitochondrial fragmentation involved in apoptotic process  
involved_in mitochondrial fragmentation involved in apoptotic process PubMed 
involved_in mitochondrial membrane fission PubMed 
involved_in mitochondrial membrane fission PubMed 
acts_upstream_of_or_within mitochondrion organization PubMed 
involved_in mitochondrion organization PubMed 
involved_in mitocytosis  
involved_in peroxisome fission  
involved_in peroxisome fission PubMed 
involved_in peroxisome fission PubMed 
involved_in positive regulation of mitochondrial fission PubMed 
involved_in positive regulation of mitochondrial fission PubMed 
involved_in positive regulation of neutrophil chemotaxis PubMed 
involved_in positive regulation of protein secretion PubMed 
involved_in protein complex oligomerization PubMed 
involved_in protein localization to mitochondrion  
involved_in protein localization to mitochondrion PubMed 
involved_in regulation of ATP metabolic process  
involved_in regulation of gene expression  
involved_in regulation of mitophagy PubMed 
involved_in regulation of peroxisome organization  
involved_in rhythmic process  
Items 1 - 25 of 32
Items 1 - 20 of 29
Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
located_in brush border  
located_in clathrin-coated pit  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol PubMed 
located_in cytosol  
NOT located_in endoplasmic reticulum PubMed 
located_in endoplasmic reticulum PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in intracellular membrane-bounded organelle  
located_in membrane PubMed 
is_active_in membrane  
colocalizes_with microtubule PubMed 
located_in microtubule PubMed 
located_in mitochondrial outer membrane PubMed 
located_in mitochondrial outer membrane  
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
colocalizes_with mitochondrion-derived vesicle PubMed 
located_in perinuclear region of cytoplasm PubMed 
located_in peroxisome PubMed 
located_in peroxisome PubMed 
part_of protein-containing complex PubMed 
located_in synaptic vesicle membrane  
Items 1 - 20 of 29

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)

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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

    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

    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

    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

    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

    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

    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

    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

    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
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