DNM1L - dynamin 1 like Gene

Also Known as DLP1; DRP1; DVLP; EMPF; OPA5; EMPF1; DYMPLE; HDYNIV

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10059

About DNM1L

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,679,301-32,745,650 (from NCBI)

This gene has 44 transcripts (splice variants), 267 orthologues, 6 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 31.0), testis (RPKM 22.9) and 25 other tissues.

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]

DNM1L Products (8)

mRNA	Protein	Name
NM_001278463.2	NP_001265392.1	dynamin-1-like protein isoform 4
NM_001278464.2	NP_001265393.1	dynamin-1-like protein isoform 5
NM_001278465.2	NP_001265394.1	dynamin-1-like protein isoform 6
NM_001278466.2	NP_001265395.1	dynamin-1-like protein isoform 7
NM_001330380.2	NP_001317309.1	dynamin-1-like protein isoform 8
NM_005690.5	NP_005681.2	dynamin-1-like protein isoform 3
NM_012062.5	NP_036192.2	dynamin-1-like protein isoform 1
NM_012063.4	NP_036193.2	dynamin-1-like protein isoform 2

DNM1L Protein Structure

Dynamin_N

Dynamin_M

GED

0
200
400
600
736 a.a.

Protein Preferred Names	Protein Names
dynamin-1-like protein	Dnm1p/Vps1p-like protein

DNM1L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DNM1L	O00429	MFF	Homo sapiens	Q9GZY8	Anti Bait CoIP	29464060
Intra	DNM1L	O00429	FIS1	Homo sapiens	Q9Y3D6	Anti Bait CoIP	29464060
Intra	DNM1L	O00429	ATAD3A	Homo sapiens	Q9NVI7	Anti Bait CoIP	30914652
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Anti Bait CoIP	22228096
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Anti Bait CoIP	23813973
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Confocal	24282027
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Confocal	22639965
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Anti Bait CoIP	22639965
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	22639965
Intra	DNM1L	O00429	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	24282027
Intra	DNM1L	O00429	ATAD3A	Homo sapiens	Q9NVI7-2	Pull Down	30914652
Intra	DNM1L	O00429	ATAD3A	Homo sapiens	Q9NVI7-2	Anti Tag CoIP	30914652
Intra	DNM1L	O00429	ATAD3A	Homo sapiens	Q9NVI7-2	Anti Bait CoIP	30914652
Intra	DNM1L	O00429	MIEF2	Homo sapiens	Q96C03	Anti Bait CoIP	29464060
Intra	DNM1L	O00429	MIEF2	Homo sapiens	Q96C03	Crosslink	21508961
Intra	DNM1L	O00429	MIEF2	Homo sapiens	Q96C03	IF	21508961
Intra	DNM1L	O00429	MIEF2	Homo sapiens	Q96C03	Y2H	21508961
Intra	DNM1L	O00429	MIEF1	Homo sapiens	Q9NQG6	Anti Tag CoIP	21701560
Intra	DNM1L	O00429	MIEF1	Homo sapiens	Q9NQG6	Anti Bait CoIP	29464060
Intra	DNM1L	O00429	MIEF1	Homo sapiens	Q9NQG6	IF	21701560
Intra	DNM1L	O00429	SAMM50	Homo sapiens	Q9Y512	Anti Bait CoIP	27059175
Intra	DNM1L	O00429	ESR1	Homo sapiens	P03372	Phage Display	21217774

Cross: Cross-species interaction Intra: Intraspecies interaction

DNM1L Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80644	DRP1 Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P83794	DRP1 Antibody (YA3491)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P83794A	DRP1 Antibody (YA3491)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P86120	Phospho-DRP1(Ser616) Antibody (YA5812)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat
HY-P86613	DRP1 Antibody (YA6305)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1 EMPF1 Empf Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1 Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
Optic Atrophy 5	OPA5 Atrophy, Optic, Type 5
Optic Atrophy 1	OPA1 Optic Atrophy Type 1 Optic Atrophy, Juvenile Kjer-Type Optic Atrophy Optic Atrophy, Kjer Type Oak Optic Atrophy, Autosomal Dominant Autosomal Dominant Optic Atrophy, Classic Form Autosomal Dominant Optic Atrophy Classic Form Adoa Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy Kjer Type Doa Dominant Optic Atrophy Kjer Type Optic Atrophy Kjer'S Optic Atrophy Optic Atrophy, Hereditary, Autosomal Dominant Autosomal Dominant Optic Atrophy, Kjer Type Kjer Optic Atrophy Optic Atrophy Juvenile Optic Atrophy Kjer Type Atrophy, Optic, Type 1
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Dominant Optic Atrophy Plus Syndrome DOA+ Adoa Autosomal Dominant Optic Atrophy Doa Optic Atrophy Plus Syndrome Dominant Optic Atrophy Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy Optic Atrophy, Dominant 3-Methylglutaconic Aciduria Type 3 Optic Atrophy, Autosomal Dominant
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia Type 12 SCA12 Ataxia, Spinocerebellar, Type 12
Optic Atrophy 11	OPA11 Atrophy, Optic, Type 11
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	OPA10 Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures Optic Atrophy 10 Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03904	DNM1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17698	Dnm1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24160	Dnm1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DNM1L	MGD	MGI:1921256
Canis familiaris	DNM1L	VGNC	VGNC:40032
Macaca mulatta	DNM1L	VGNC	VGNC:71956
Bos taurus	DNM1L	VGNC	VGNC:28142
Rattus norvegicus	DNM1L	RGD	RGD:620416
Felis catus	DNM1L	VGNC	VGNC:61559
Others	DNM1L	NCBI