1. Gene
  2. DNM1 - dynamin 1 Gene

DNM1 - dynamin 1 Gene

中文名称:动力 1

种属: Homo sapiens

同用名: DNM; DEE31; EIEE31

基因 ID: 1759 | 基因类型: protein coding

关于 DNM1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,203,379-128,255,244 (from NCBI)

This gene has 31 transcripts (splice variants), 271 orthologues, 6 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 103.8) and gall bladder (RPKM 8.7).

功能概要

该基因编码 GTP 结合蛋白的动力蛋白亚家族成员。编码的蛋白质具有独特的机械化学特性,用于管状和切断膜,并参与网格蛋白介导的内吞作用和其他囊泡运输过程。肌动蛋白和其他细胞骨架蛋白充当编码蛋白的结合伙伴,它们也可以自组装,从而刺激 GTPase 活性。在基因组的其他地方,特别是在 Y 和 15 号染色体上发现了该基因 3' 区域的 60 多个高度保守的拷贝。已经描述了编码不同亚型的选择性剪接转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the Dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

DNM1 基因产物(6)

mRNA Protein Name
NM_001005336.3 NP_001005336.1 dynamin-1 isoform 2
NM_001288737.2 NP_001275666.1 dynamin-1 isoform 3
NM_001288738.2 NP_001275667.1 dynamin-1 isoform 3
NM_001288739.2 NP_001275668.1 dynamin-1 isoform 4
NM_001374269.1 NP_001361198.1 dynamin-1 isoform 5
NM_004408.4 NP_004399.2 dynamin-1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activity IDA
IDA: 通过直接分析推断
20428113 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20428113 GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
IDA: 通过直接分析推断
9765310 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
9765310 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IMP
IMP: 通过突变表型推断
10074457 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9922133 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
20428113 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endocytosis IMP
IMP: 通过突变表型推断
19706678 GOA
involved in endosome organization IMP
IMP: 通过突变表型推断
19706678 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
9765310 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
9362482 GOA
involved in receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
8101525 GOA
involved in receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
10074457 GOA
involved in vesicle scission IDA
IDA: 通过直接分析推断
19084269 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated pit IDA
IDA: 通过直接分析推断
8101525 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DNM1 蛋白结构

Dynamin_N

Dynamin_N: Dynamin family (34 - 207)

Dynamin_M

Dynamin_M: Dynamin central region (216 - 507)

PH

PH: PH domain (520 - 618)

GED

GED: Dynamin GTPase effector domain (655 - 744)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 864 a.a.
蛋白主名 其他名称

dynamin-1

DNM1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra DNM1 Q05193 FNBP1 Homo sapiens Q96RU3
Fluorescence
15252009
Intra DNM1 Q05193 FNBP1 Homo sapiens Q96RU3
Anti Tag CoIP
15252009
Intra DNM1 Q05193 NOS3 Homo sapiens P29474
Anti Bait CoIP
16432212
Intra DNM1 Q05193 NOSTRIN Homo sapiens Q8IVI9
Pull Down
16234328
Intra DNM1 Q05193 NOSTRIN Homo sapiens Q8IVI9
Anti Tag CoIP
16234328
Intra DNM1 Q05193 SNX33 Homo sapiens Q8WV41
Anti Bait CoIP
18353773
Intra DNM1 Q05193 SPG11 Homo sapiens Q96JI7
Y2H
29949766
Intra DNM1 Q05193 SPG11 Homo sapiens Q96JI7
Anti Tag CoIP
29949766
Intra DNM1 Q05193 DNM2 Homo sapiens P50570
Anti Tag CoIP
35271311
Intra DNM1 Q05193 DNM2 Homo sapiens P50570
Y2H
21900206
Intra DNM1 Q05193 GRB2 Homo sapiens P62993
Pull Down
10206341
Intra DNM1 Q05193 HTT Homo sapiens P42858
Y2H
17500595
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
GMS
21927000
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
Solution Sedimentation
26302298
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
Crosslink
21962517
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
SAXS
20700106
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
Solution Sedimentation
20700106
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
X-Ray Diffraction
20428113
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
3D-EM
30069048
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
GMS
20428113
Intra DNM1 Q05193 SNX9 Homo sapiens Q9Y5X1
Pull Down
16137687
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
GMS
21962517
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
X-Ray Diffraction
21927000
Intra DNM1 Q05193 SNX9 Homo sapiens Q9Y5X1
Pull Down
15703209
Intra DNM1 Q05193 DNM1 Homo sapiens Q05193
EM
21962517
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 31

DEE31

Epileptic Encephalopathy, Early Infantile, 31

Eiee31

Developmental And Epileptic Encephalopathy, 31

Early Infantile Epileptic Encephalopathy 31

Encephalopathy, Epileptic, Early Infantile, Type 31

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Motor Stereotypies

Motor Stereotypy

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Hypotonia
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB

Charcot-Marie-Tooth Disease Dominant Intermediate B

Di-Cmtb

Cmtdi1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

CMT2M

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Disease, Axonal Type 2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Disease 2m

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Neuropathy, Hereditary Sensory, Type Id

HSN1D

Hereditary Sensory Neuropathy Type 1d

Neuropathy, Hereditary Sensory, Type 1d

Neuropathy, Hereditary Sensory, 1d

Hereditary Sensory Neuropathy Type Id

Neuropathy, Sensory, Hereditary, Type Id

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

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

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DNM1 RGD RGD:71096
Bos taurus DNM1 VGNC VGNC:50145
Felis catus DNM1 VGNC VGNC:61558
Mus musculus DNM1 MGD MGI:107384
Canis familiaris DNM1 VGNC VGNC:51945
Macaca mulatta DNM1 VGNC VGNC:71955