DNM1 - dynamin 1 Gene

Also Known as DNM; DEE31; EIEE31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1759

About 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).

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	20428113	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20428113	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	9765310	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	9765310	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IMP IMP: Inferred from mutant phenotype	10074457	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9922133	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	20428113	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endocytosis	IMP IMP: Inferred from mutant phenotype	19706678	GOA
involved in endosome organization	IMP IMP: Inferred from mutant phenotype	19706678	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	9765310	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	9362482	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	8101525	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	10074457	GOA
involved in vesicle scission	IDA IDA: Inferred from direct assay	19084269	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	8101525	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNM1 Protein Structure

Dynamin_N

Dynamin_M

GED

0
200
400
600
800
864 a.a.

Protein Preferred Names	Protein Names
dynamin-1

DNM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

DNM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80390	Dynamin 1 Antibody (YA779)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P84487	Dynamin I Antibody (YA4184)	WB, IHC-P, ELISA	Human
HY-P84487A	Dynamin I Antibody (YA4184)(PBS only)	WB, IHC-P, ELISA	Human
HY-P85125	Dynamin I Antibody (YA4817)	WB, IHC-P, ICC/IF, ELISA	Human

Related Diseases

Diseases	Alias
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

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03904	DNM1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28663	Dnm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03903	DNM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17698	Dnm1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22142	Dnm1 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
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
Others	DNM1	NCBI