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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Young small extracellular vesicles rejuvenate replicative senescence by remodeling Drp1 translocation-mediated mitochondrial dynamics.
Title: Young small extracellular vesicles rejuvenate replicative senescence by remodeling Drp1 translocation-mediated mitochondrial dynamics.
The majority of mutations responsible for autosomatic dominant optic atrophy are localized in OPA1 gene. Second locus is linked to 18q12.2-q12.3 (OPA4) and a third locus on 22q12.1-q13.1 (OPA5).
Title: [Genetic basis of hereditary optic atrophies].
Multifaceted role of dynamin-related protein 1 in cardiovascular disease: From mitochondrial fission to therapeutic interventions.
Title: Multifaceted role of dynamin-related protein 1 in cardiovascular disease: From mitochondrial fission to therapeutic interventions.
Drp1: Focus on Diseases Triggered by the Mitochondrial Pathway.
Title: Drp1: Focus on Diseases Triggered by the Mitochondrial Pathway.
Serine 39 in the GTP-binding domain of Drp1 is involved in shaping mitochondrial morphology.
Title: Serine 39 in the GTP-binding domain of Drp1 is involved in shaping mitochondrial morphology.
MCU inhibition protects against intestinal ischemia-reperfusion by inhibiting Drp1-dependent mitochondrial fission.
Title: MCU inhibition protects against intestinal ischemia‒reperfusion by inhibiting Drp1-dependent mitochondrial fission.
MAP4K4 exacerbates cardiac microvascular injury in diabetes by facilitating S-nitrosylation modification of Drp1.
Title: MAP4K4 exacerbates cardiac microvascular injury in diabetes by facilitating S-nitrosylation modification of Drp1.
GTPBP8 modulates mitochondrial fission through a Drp1-dependent process.
Title: GTPBP8 modulates mitochondrial fission through a Drp1-dependent process.
Circ_0098823 binding with IGF2BP3 regulates DNM1L stability to promote metastasis of hepatocellular carcinoma via mitochondrial fission.
Title: Circ_0098823 binding with IGF2BP3 regulates DNM1L stability to promote metastasis of hepatocellular carcinoma via mitochondrial fission.
Intertwined relationship of dynamin-related protein 1, mitochondrial metabolism and circadian rhythm.
Title: Intertwined relationship of dynamin-related protein 1, mitochondrial metabolism and circadian rhythm.

Submit: New GeneRIF Correction See all GeneRIFs (296)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MedGen: C3280660 OMIM: 614388 GeneReviews: Not available	Compare labs
Optic atrophy 5 MedGen: C1853139 OMIM: 610708 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S2017 (e-PCR)
- UniSTS:65797

A001X15 (e-PCR)
- UniSTS:54558

SGC33422 (e-PCR)
- UniSTS:74536

D8S2279 (e-PCR)
- UniSTS:473907

RH123679 (e-PCR)
- UniSTS:135234

RH80030 (e-PCR)
- UniSTS:87680

RH15679 (e-PCR)
- UniSTS:46217

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-2539 (e-PCR)
- UniSTS:46270

DNM1L_7961 (e-PCR)
- UniSTS:467656

G59502 (e-PCR)
- UniSTS:136666

RH48065 (e-PCR)
- UniSTS:77296

RH48067 (e-PCR)
- UniSTS:77297

G43506 (e-PCR)
- UniSTS:94963

SGC30841 (e-PCR)
- UniSTS:38655

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 more info	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 more info	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

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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

EC 3.6.5.5

NP_001265393.1

EC 3.6.5.5

NP_001265394.1

EC 3.6.5.5

NP_001265395.1

EC 3.6.5.5

NP_001317309.1

EC 3.6.5.5

NP_005681.2

EC 3.6.5.5

NP_036192.2

EC 3.6.5.5

NP_036193.2

EC 3.6.5.5

XP_011518845.1

EC 3.6.5.5

XP_047284003.1

EC 3.6.5.5

XP_054226690.1

EC 3.6.5.5

XP_054226691.1

EC 3.6.5.5

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

NG_012219.1 RefSeqGene

Range

5099..71448

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278463.2 → NP_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:23 → 302

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:226 → 510

Dynamin_M; Dynamin central region

pfam02212
Location:631 → 719

GED; Dynamin GTPase effector domain
NM_001278464.2 → NP_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:23 → 315

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:239 → 523

Dynamin_M; Dynamin central region

pfam02212
Location:655 → 743

GED; Dynamin GTPase effector domain
NM_001278465.2 → NP_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:23 → 315

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:238 → 523

Dynamin_M; Dynamin central region

pfam02212
Location:642 → 732

GED; Dynamin GTPase effector domain
NM_001278466.2 → NP_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:8 → 526

CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]

pfam01031
Location:44 → 307

Dynamin_M; Dynamin central region

pfam02212
Location:439 → 527

GED; Dynamin GTPase effector domain
NM_001330380.2 → NP_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:23 → 315

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:239 → 523

Dynamin_M; Dynamin central region

pfam02212
Location:618 → 706

GED; Dynamin GTPase effector domain
NM_005690.5 → NP_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:23 → 302

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:226 → 510

Dynamin_M; Dynamin central region

pfam02212
Location:605 → 693

GED; Dynamin GTPase effector domain
NM_012062.5 → NP_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:23 → 302

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:226 → 510

Dynamin_M; Dynamin central region

pfam02212
Location:642 → 730

GED; Dynamin GTPase effector domain
NM_012063.4 → NP_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:23 → 302

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:226 → 510

Dynamin_M; Dynamin central region

pfam02212
Location:616 → 704

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

32679301..32745650

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520543.4 → XP_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:23 → 315

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

pfam01031
Location:239 → 523

Dynamin_M; Dynamin central region

pfam02212
Location:629 → 717

GED; Dynamin GTPase effector domain
XM_047428047.1 → XP_047284003.1 dynamin-1-like protein isoform X2

Related

ENSP00000515279.1, ENST00000703369.1