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  2. DNM1L - dynamin 1 like Gene

DNM1L - dynamin 1 like Gene

中文名称:动态 1 样

种属: Homo sapiens


基因 ID: 10059 | 基因类型: protein coding

关于 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.


该基因编码 GTP 酶发动蛋白超家族的成员。编码的蛋白质介导线粒体和过氧化物酶体分裂,并参与发育调节的细胞凋亡和程序性坏死。该基因的功能障碍与多种神经系统疾病有关,包括阿尔茨海默氏病。由于线粒体和过氧化物酶体裂变 (EMPF) 缺陷,该基因的突变与常染色体显性遗传病、脑病、致死性相关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 6 月]

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 基因产物(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 蛋白结构


Dynamin_N: Dynamin family (28 - 217)


Dynamin_M: Dynamin central region (226 - 516)


GED: Dynamin GTPase effector domain (639 - 730)

  • 0
  • 200
  • 400
  • 600
  • 736 a.a.
蛋白主名 其他名称

dynamin-1-like protein

Dnm1p/Vps1p-like protein


疾病名称 别名
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1



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


Atrophy, Optic, Type 5

Optic Atrophy 1


Optic Atrophy Type 1

Optic Atrophy, Juvenile

Kjer-Type Optic Atrophy

Optic Atrophy, Kjer Type


Optic Atrophy, Autosomal Dominant

Autosomal Dominant Optic Atrophy, Classic Form

Autosomal Dominant Optic Atrophy Classic Form


Autosomal Dominant Optic Atrophy

Autosomal Dominant Optic Atrophy Kjer Type


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


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, 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


Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified



Brain Diseases


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



Autosomal Dominant Optic Atrophy


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


Ataxia, Spinocerebellar, Type 12

Optic Atrophy 11


Atrophy, Optic, Type 11

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome


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


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



Hereditary Motor And Sensory Neuropathy


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


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






Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain



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


Atrophy, Optic, Type 9


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-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



Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease


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


Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy



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


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


Congenital Iron Overload



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


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



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


Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy


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


Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease


Amyotrophic Lateral Sclerosis, Susceptibility To


Lou Gehrig'S Disease


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



Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome


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

疾病名称 别名
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


种属 基因名 来源 基因 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