DNM1 - dynamin 1 Gene

Homo sapiens

Also known as DNM; DEE31; EIEE31

Gene ID: 1759 | Gene type: protein coding

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

DNM1 Protein Structure

Dynamin_N

Dynamin_M

GED

0
200
400
600
800
864 a.a.

Protein Preferred Names

Protein Names

dynamin-1

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03903	DNM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03904	DNM1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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